Monthly Archives: October 2013

Theo at work, he reads law documents

“Free will, determinism, quantum theory and statistical fluctuation: a physicist take” says Carlo Rovelli, an Italian theoretical physicist. “Any attempt to link this discussion to moral, ethical or legal issues, as is often been done, is pure nonsense” he adds to it. But that is what we are doing. We are fascinated with the question if we have free choice in our life or forget the whole thing, our dinner was decided at the moment of Big Bang.

The philosophers pick up the question, stepping over the physicists. Very much so regular people in every day life are also interested in their destiny, of course they want to know what their chances are. Free will means in philosophical terms that you can make choices not limited by any factors of any kind. My opinion is that this is almost impossible, certainly for me, most of my choices in my life were limited by certain factors of different kind. I am more on the other side being close to be a determinist. Well, absolute free will and total determinism are the wide extreme ends of the same issue. Extreme views never attracted me, so even being more like a determinists I would rather not go back to the Big Bang, I still can say pasta over chicken on my long intercontinental flight.

Zsolt Boldogkői leading Hungarian geneticist and popular writer asks the question: How can we act free when physical and biological laws control our mind? He and others suggest to adopt compatibilism. Compatibilism means that free will and determinism are not antagonistic, you can believe in both, they could be consistent with each other.  Modern compatibilists believe that free will is more like that we follow our dreams, we follow our motivations. I like what Arthur Schopenhauer famously said: “Man can do what he wills but he cannot will what he wills”. In other words, although a person may often be free to act according to a motive, the nature of that motive is determined.

Personally, I would define myself as a genetic determinist, using the scientific definition. Based on genetic determinism theory, genes together with environmental factors determine morphological and behavioral phenotypes. So isn’t this true, genes, our genotype, our pre-determined susceptibility factors act together with the environment? Yes, and the environment includes us, our experience, our will, desire and motivation.

After all, I do have a little compatible free will, I have desire and motivation to follow. Let see how much of my desire and motivation that is limited by time and space would help me to conduct my daily life. First, I get up in the morning and if I slept well for at least eight hours I feel good enough to follow my morning routine, here I do not have too much free will, desire and motivation, I follow the rule of nature. The next 8-10 hours I work. Professionally, I am very lucky, because here at least I have some free will, lots of desire and motivation, but only because I can work with my lovely genome, otherwise, I would not have any choice regarding the necessity of work, I need to earn money, pay the rent and get the food because I need to survive every day for my pure existence. By the evening I am hungry again, need to prepare food, follow my evening routine, similar to the morning routine, the day is almost gone and if I do well, I might have done something else than just satisfy half of my physical-chemical-biological obligations, to maintain my pure existence. Well, I still need to maintain my species, to satisfy the other half of my physical-chemical-biological obligations, my desire and motivation is still there, with less free choice on my side, depending on my wife.

And why is Theo the bra master? What kind of free will does he have? Theodore is a Pug. Dogs are generally lovely creatures, they share not just happiness but also their microbiota world with us, making the whole family healthier. Dogs were bred to accompany us humans, they became so dependent on us, they need our food and care, so they can not even live on their own any more. Pug is a small dog, he was bred to live in the house, play with us and sit in our lap, never got bored of it. Pug is very needy,  all the time he wants to spend with us. Pug farts and snores. We need to clean his ass and eyes. Pug always wants to eat, Pug is fat. Pug will not accompany me on my evening run, Pug does not even like the evening stroll for some educated pooping. Pug enjoys chewing on toys so much that he becomes very excited and sometimes I believe he is in some passionate fight. Pug likes to lick, pug loves children. Pug is smart and difficult to train. Pug loves us and Pug owns us. Pug chooses the boss, the head of the family. Pug chooses my wife. Well, he loves me and he plays with me, as a matter of fact I am happy that at least he accepts me as equal.

Our Pug has a strange habit, he likes to dig into the laundry, in the mess we have sometimes he can get access to the dirty laundry. He repeatedly picks up bras of different shapes, colors and variations but always my wife’s bras. Not other clothing and not any other family member’s clothing. No socks, no panties of any origin. Our Theo the Pug is four months young, he is a baby, not toilet trained yet. His behavior is nothing to do with free choice, nothing to do with Theo’s desire and motivation. It is his genetically determined instinct to ask for care from the person he loves and trusts most. Or looking at Theo’s strange obsession with my wife’s bras, I start wondering if an inbred dog with all the genetic restrictions and predisposed diseases, he can not help, not even aware of, makes a choice who he loves and trusts the most.

Boldogkői writes: “ Today, what we can do for our well being is to eat all variety of healthy food in total balance, we try to avoid stress, sleep enough, exercise our body and challenge our mind.” I am asking, is it possible, when we obey to all laws of nature, when we successfully maintain our existence and extend our species, we might sit back for a moment in peace and harmony and take that moment to make some educated free choices, once in a while?

Theodore at serious ownership

Tibor Gyuris

Personal Genomics Blogger

2013. October 31

“Knowledge is always good and certainly always better than ignorance.”–Sergey Brin

“Possideo genes ergo sum”—Anonymous Roman Philosopher

….can fruit fly choose sexual orientation….

Meta-genomics is when you want to discover the genetic background of a complex living system. Not just one individual genome, but many individual’s genome analyzed together. This poses a difficult bioinformatics challenge, like you want to sequence a small sample from the ocean, millions of microorganisms living in that tiny sip of water and you want to know which is which DNA. Meta-genomics DNA sequencing is gaining extra momentum these days because we want to understand the microbiota world around us and as a matter of fact the microbiota world inside us.

Today we live in a clean world, modern sanitation, hygiene is good and we live longer as a result of this, of course with considering other beneficial factors of modern human living. However it is suspected by now that super hygiene might cause unexpected problems in our health, for example sudden burst and domination of dangerously pathogenic bacteria and lots of different autoimmune disorders.

Dangerous bacterial hospital strains may become resistant to the best antibiotics and they may become very deadly. Bad Clostridium difficile bacterium might be lurking around your gut but in your healthy, balanced system it is kept under control by normal, good bacteria. After surgery people are treated with antibiotics, to prevent infection, however this might backfire because of harming all bacteria and that could be the opportunity for some smart and strong survival Clostridium difficile individuals taking over the control. And the fatal damage might follow, there might not be any help available at that point. Earlier this year New England Medical Journal reported Els van Nood and colleagues brilliant result of defeating Clostridium difficile by administering fecal microbiota transplant by enema. Microbiota transplantation is not totally new, it has been used sporadically and empirically by limited number of doctors in the last fifty years. Well, before that we did not wash our hands all the time and we were  living in peace and harmony with our bacterial cohabitants, shorter life. Modern molecular based science, namely massive DNA sequencing of complex biological systems, in other words meta-genomics opens a new era of modern personalized medicine when we could understand the molecular mechanism behind bacteriotherapy that could be beneficial for conditions like ulcerative colitis, neurological conditions, Parkinson’s disease, obesity, metabolic syndrome, diabetes and all kind of auto immune disorders, and yet we all still can wash our hands and live long in a clean, healthy environment.

Professionally, I am not just a hard working DNA sequencing scientist but also a lucky individual to be involved in many fascinating sequencing projects. This year in our laboratory we started a meta-genomics DNA sequencing project to discover microbial strains in complex biological samples, so I am totally involved in this matter, inside-outside. I am so obsessed with next generation sequencing, this is my profession and passion, so much that I choose to live separately from my wife because of this lovely sequencing machine. Well, as much as I got excited all day long, every day just by thinking about sequencing, that much I was dry and depressed every night, eating, flossing my teeth and watching political circus. That was all.

Personally, I have been conscientiously clean all in my life, you know the type of person who washes hands 15-20 times a day. Unfortunetally,  I have several autoimmune conditions, including dark red spots on the light strawberry top. It is not that dangerous, it is not painful, no bumpy, no itchy, no smell, remember we have high hygiene, so I only have embarrassing red dots. This condition has been accompanying me for about ten years, mostly asymptomatic. But in the last two years it came back as my stubborn reminder of my sterile TV bound lifestyle. Well, my recent lovely development in my personal life landed me on the southern hemisphere, back to my hot tropical wife. In the tropics everything grows. It is hot and wet. It is the tropical paradise and this paradise is highly populated with good zoo. All kind of zoo including good microbota zoo. Grown in hidden, hot and wet places.  My red spot inflammation could not be treated by private doctor, neither by leading specialists at a world class teaching hospital, they could not help me in the last two years. But now in two weeks I have been cured, no more red spots. What helped me is just a simple microbiota treatment, an ointment, several times a day at the beginning, later to administer it only once a day, every night.

We are not alone, we live in a complex world superimposed into different layer biota’s, macro biota’s and micro biota’s, all forming together Gaia Earth as a super organism. Where the disequilibrium is, there the disease is. So find peace and harmony and your health will follow. Good bacterium beats bad bacterium. And good complex microbiota might treat your autoimmune disease.

I am making my living as a DNA sequencing scientist. Well, I am also an amateur blogger who wants to popularize personal genomics and in order to do that I am exposing some personal, private meta-genomics facts about my life. I am also very shy, I can not talk about the love I feel heating up my heart that I can not explain by the means of genomics. I leave it for the future science of neuro-genomics and I leave it for your imagination.

Tibor Gyuris

Personal Genomics Blogger

2013. October 18

“Knowledge is always good and certainly always better than ignorance.”–Sergey Brin

“Possideo genes ergo sum”—Anonymous Roman Philosopher

….stay tuned for the development of my long term proposal for CR association study, plus I am pondering on some strange behavior of my Theo the Pug….

Hungarian culture has a legendary, a genius, a heroic poet, a true Hungarian cultural treasure. His name is Sándor Pető­fi. He is basic in Hungary, like toddlers learn his poems in nursery schools. He did not become world famous, not because of his legacy, but because of the language he used to write his poems. He used the strange and unique nothing else to compare language, Hungarian. Pető­fi was a real life hero also, he died young in battle defending freedom in 1848.

Pető­fi wrote a satiric poem about Sir Pál Pató, after a long lasting wedding party, I am sure they all had a very good time, including another famous novelist Mór Jókai, where they all learned about the type of person, like Sir Pál Pató, who used to live in that area. Sir Pál Pató is a very unproductive person, he has all the means and talent but he says “Well, we can do this later!” There is something in Sir Pál Pató that prevents him from action. Pető­fi, the young poet, like James Dean type, could not help to make Sir Pál Pató ridiculous. However, Pető­fi partially acquits Sir Pál Pató who can’t help his genes, he was born in Hungary, all Hungarians are like Sir Pál Pató.

I respectfully disagree with Pető­fi. He can not generalize this trait of Sir Pál Pató for the whole nation of Hungary. As a matter of fact, personally I have experienced the opposite. I never encountered the Sir Pál Pató type trait. Not in Hungary, not anywhere else. I lived geographically and culturally in multiple places in the world, always surrounded by quality people of extremely diverse ethnic, cultural and national background.

Well, let me admit, my favorite evening past time is to watch political talk shows and political magazine programs. They really entertain me. I love movies both Hollywood and all kind of art films. I love to watch football. But most of all when politicians are on the show, I love them all, they really entertain me. I watch political circus in all different places in the world of extremely diverse ethnic, cultural and national background.

Recently, as all of us, I have been watching the news of US government shot down. I am reading about continuing resolution (CR). I am reading about stop-gap appropriations measures. Something that fills the place of something else that is lacking, a temporary substitute, a makeshift. No solution, just a substitution. Can you see what I see? “Well, we can do this later!” So there are genes for Sir Pál Pató. We can do it later. Ok, it is more like a complex genetic trait, based on multiple genes interaction embedded in environmental factors. We don’t know what the genotype is, but we certainly see the phenotype. It is a politician phenotype. It is very complex but clearly recognizable. So, disagreeing with the famous poet Sándor Pető­fi, it is not a Hungarian trait. It is the politician trait. I declare it the CR trait. Independent of ethnic, cultural and national background.

Let’s find the genotype behind the CR phenotype, lets find the CR genes. We can do this genomics bottom-up style. Like there is crowdsourcing, crowdknowledge, there is also crowdfunding.  Here, I call for a genetic association study organized and managed by the people. Let’s compare 1000 elected politician DNA to 1000 business leader DNA. The DNA samples should come from diverse ethnic, cultural and national background, from any country on earth. Only criteria is to choose past and present elected politicians versus business leaders. Politicians are good people, they work hard to maintain our global democratic political system all over the world. So don’t bother about Anthony Weiner, he is too busy playing with himself.  And we compare all of the politicians to CEO’s and self made entrepreneurs. The later ones have no time to do it later.

I need your help, we can do this together. Let’s make some popular and quality science here. We can use RocketHub an online crowdfunding platform to raise money for this independent, serious science projects. I need young political activists who would call their representatives very nicely to spit into a collection tube, and by the way if they do spit, why not helping us with 99 dollars (or equivalent currency) that would cover one person’s genotyping. Make one more trip to the CEO business office for another spit and for another 99 dollar check. If some of our subjects would spit but would not contribute, no worry, we will come up with the money, lots of scientist did this with the help of RocketHub. Very importantly, I need an academic lab or an industrial setting to carry out the genotyping experiments. What is the benefit: we would associate some genetic variations with the CR phenotype. We will publish the result and I will be on the author list. My role here is to be an independent scientist who’s ultimate goal is to make important scientific discovery and publish it in a prestigious scientific paper. Ultimately science will be served.

Once I pushed this idea into the public domain EpiGeneBook platform, right now, I start working on the actual scientific-businnes plan how to execute this promising gene-trait association study.  In the mean time I am waiting for your input, remember we are all together: it is crowdknowledge.

By the way there is no English translation of Sir Pál Pató poem. If anybody comes up with the solution, we will publish it here on EpiGeneBook platform.

Tibor Gyuris

Personal Genomics Blogger

2013. October 11

“Knowledge is always good and certainly always better than ignorance.”–Sergey Brin

“Possideo genes ergo sum”—Anonymous Roman Philosopher

….stay tuned for the development of this provocative independent scientific project….

By now, you all might understand my enthusiasm about my own personal genomics and I hope I can drag you with me into the intriguing world of social genomics.  However you are skeptically asking me, how is it possible to talk about personalized genomics when we can only understand a few hundred features -remember, call them phenotypes- associated with readable genotype. How about the other 25 thousand plus genes, their protein products and the even more complex interaction of genes, 100 of thousands of gene functions and millions of individual variations among all of us living here on Gaia earth and ever have lived in our genomic history all embedded in the simple 3 billion letters.

No worry you are not alone as a skeptical amateur personal geneticist. Leading genetic professionals all over the world express their official public opinion against personal genetic testing. Against DTC, Direct to Consumer genetic testing. Well, they have all points of skepticism. In my opening blog I clearly quoted CDC warning that irresponsible genetic testing and false interpretation of our personal genome is very dangerous. It is very important however the communication, the most important as a matter of fact. If you join me, we are going to make this place a forum to talk about it. If you feel comfortable, share your genetic traits with us. If you don’t understand something, we will throw the question to the platform of powerful crowd knowledge. If it turns out that you might have some kind of genetic disease, than this forum will tell you immediately to turn to a doctor, to a specialist. In my personal opinion, it is always better to know it before than after. And remember the genetic test does not make you sick.

Ok, hope you are still with me. I hope, I would not scare you away from genetic testing. Lets try something for the light hearted amateur personal geneticist, for my beloved fellow EpiGeneBook readers. Nutrigenomics. Did you hear about this? Well, I am almost sure you care about what you eat and you care about your beloved style of exercise. For nutrition, I give you a free advise. Don’t eat too much fast food, no industrially ground meat at all, processed food is not healthy.  If you are very hungry and if you have no time to prepare food or no money to take food from a decent restaurant, eat unsalted butter lightly spread on whole grain bread, eat nuts and honey. I am sure you have never heard this before. It is a quick fix fast food. Well don’t eat too much, because here we are talking about not just good calories, we are talking about lots of good calories. So, this first part of advise of EpiGeneBook is for the hungry. If you are not that hungry eat freshly cut vegetables with some cheese and yoghurt. Lots of green leaf vegetables, as a matter of fact all color type of fresh vegetables. Do you know that virtually all type of vegetables can be eaten as raw food. Lets call it fast food, sounds better?  If you have a little more time, put some vegetable oil in a pot, braise anion and garlic for 3 minutes and put all kind of fresh cut vegetables in the pot, little salt and some black pepper on it, well, ok, choose your favorite spicing to add than cover it and cook for another 5-10 minutes. And this is gourmet food, I guarantee it. Don’t eat a lot of meat, always freshly cut meat, newer ground meat, unless you grind it at home. I have been eating like this for about 7 years, I started it when I turned 50. Plus I eat a lot of beans and beetroot. Beetroot so much that my skin turned purple-pink, just kidding, but sure, I love beetroot, it certainly gives me a complex nutritional experience.

If you are a truly good business person and you believe that every product worth as much as it costs, than you will not take my free advice.  Sure, you are part of a multi-billion dollar nutrition-fitness industry. You are willingly and happily pay the gym, pool, fitness club fees and you might even do a weight watcher program. Hey, me too, I pay for an expensive bike, I pay for the climbing gym, I pay for the swimming pool and the spinning classes in the winter time, for the last one California does not apply. Well, I am not “watching” weight. When I eat the chocolate part of my otherwise healthy diet, or drink the beer –we are taking about empty calories here- that also should not belong to my healthy diet, or oh boy I like the baked ham with the crispy-red-hardened cover of it or the properly cooked duck which is uniquely tasty and nutritious, the next day I see the extra layer of swimming belt on my tummy. Really, no kidding, oh my genes, oh my FTO, my appetite gene. Yes, my own free nutrition-fitness advice was not good enough even for me.  I wanted to know more. I did the nutrigenomics-fitness test.

They tested the total of 78 SNP’s of 53 genes. They tested my genes associated with metabolism and accumulation of lipids in my body. There are 13 lipid genes on my list, 15 SNP’s tested.  My central PPARG gene SNP shows that I can get excessively higher BMI (Body Mass Index) when I consume higher amount of saturated fats. You know I am the type of person who gets obese from just breathing clean air.  My BMI is 26.1 even though I eat relatively healthy and actively exercise. Maybe my occasional indulgence for baked ham and duck is the reason for the higher than normal BMI. PPARG gene is a central regulator for many cellular actions and it is included in several diseases like obesity, diabetes, atherosclerosis, and cancer. So, I stop here before any conclusion, I don’t really understand what my PPARG SNP means, but hey, if they say that I must decrease my saturated fat intake in order to be more healthy, I will do it. I paid for this information. I became part of the multi-billion dollar weight watching industry. I am a brand new customer. I joined the best program, the nutrigenomics program, for sure.

Most of my other SNP’s for fat metabolism are average or favorable, but I want to explore with you 3 of my SNP’s which represent higher risk factors for me. I have an SNP in CETP gene, coding for cholesteryl ester transfer protein that is participating in good cholesterol (HDL) and bad cholesterol (LDL) transfer metabolism in an unfavorable way for me. Also, I have an SNP in PCSK1 gene, pro-protein convertase-1 that is the first enzyme in the insulin processing pathway and in my case my particular genotype is associated with increased risk of obesity. One more gene in my lipid panel I am in trouble with is GNB3, the gene coding for the guanine nucleotide-binding protein which is associated with hypertension and obesity. This is too much for me to listen.

Four of my genes associated with the metabolism of glucose and regulation of insulin were also tested, one of them is not favorable. They found an SNP in my CDKN2A gene. I am carrying the TT genotype of the SNP called rs10811661 that exhibit an increased risk for impaired glucose tolerance. Again, this information is good enough for me to feel comfortable reducing my chocolate intake without suffering from the withdrawal effect. Three other variations are very favorable for my health, the good news is that based on my TCF7L2 and PLIN genotype I can actually increase complex carbohydrate intake and still beneficial on my BMI plus improves my overall health. Thank you my genes, at least something is good, I don’t like fatty food anyway, but I love pasta, rice and most of all the favorite every day food for me is bread.

Analyzing three of my genes ACE, ACTN3 and AMPD1 they declare that sport activities which include a combination of both aerobic and anaerobic muscle function are most probable suitable for me with my genetic profile. My potential for both muscle strength and endurance is high. I love my genes. I love my good sport potential. I love doing all kind of sport all in my life, since I was 3 years young all the way through to my more advanced age when I am still participating in age group triathlon. I never became a first class athlete, even though I had a high potential, I never trained for that, I never wanted to be a first class athlete, you can call it an environmental factor. So, genotype is only a potential that is given to you, you make it better or worse through all in your life, the way you live, the path you choose.

And oh my FTO! My appetite gene. FTO is strongly associated with the accumulation of fat mass and with obesity. FTO gene is expressed in my brain where my hunger and satiation feeling is located. Appetite and desire, well let’s just talk about the food for now. FTO mechanism of action is believed to be associated with the feeling of appetite. People with A variant thought to have more trouble controlling themselves for the amount of food they eat. Thank god I am AT and not AA. I am already having trouble controlling myself. When I was very young, I mean really, like 5 years young, I was able to eat 7 chicken drumsticks. I was eating every time, every meal, as a little boy, my mother told me, as I was starving from ultimate hunger and as I would never be eating again. This was my personality, they told me, I know now it is the A variant in my FTO gene. And in this particular case, there was no environmental factor, only pure genes. I grew up in my father’s rural veterinarian household where my mother had a full time job to feed me. No shortage of food, we ate every day as other people on a wedding party. I was a very active child, as I am today, playing and working hard all the time and doing the daily exercise for sure. If I am on vacation without much physical activity, lots of all-you-can-eat food, in three weeks I can gain 6-8 pounds, no kidding, and I am only AT by my FTO. Thank good vacation is over and thank god I love biking.

All in all, I learned about my potential of fat metabolism, glucose metabolism and general fitness. The best part is that I received a full cook book. They recommend me what to eat, what supplements I should take, what my ultimate goal for calorie intake is. And they have a good taste, man, yummy, I love nutrigenomics diet.

Tibor Gyuris

Personal Genomics Blogger

2013. October 8

“Knowledge is always good and certainly always better than ignorance.”–Sergey Brin

“Possideo genes ergo sum”—Anonymous Roman Philosopher

….stay tuned for a provocative proposal, I need your help….

Two weeks ago when I launched my EpiGeneBook, I promised to disclose my personal genomics real life experience to my readers with whom I share more than 99% of my genome. The fascinating fact is that how much identical humans we all are — my purpose is to keep emphasize this fact – well very much we are also different from each other. Those differences come from the variations in our beloved genome. Some variations are single points (SNP), just a single letter written differently, some variations are little additions, some variations are little deletions, some variations are gross re-arrangements, a larger segment of the genome flipping to the other direction or into a totally different location or multiplied into several copies. You have to imagine this that our genome is in constant motion, stretches out to work hard or shrink to a hermit position to sleep. The genome can be exposed to errors when it is copied. Most of the mistakes in our genome get corrected on the spot, but many changes remain undetected. So now, you have to imagine, that this motion is not just in the trillions of cells in your own body, but in all bodies in every single organism in Gaia Earth for more than 3 billion years in our present timeline. What a possibility for variations! Cheers to genetic diversity!

DNA sequencing is one of the direct methods to learn about genetic diversity. DNA sequencing is trivial today. But historically it took 15 years to sequence one (1) human genome, today we can do it in a few days in my lab. So at the dawn of genome sequencing there was one human genome, The Human Genome DNA sequence, an abstract scientific information. With the recent advances of DNA sequencing technologies, today 1000s of individual genomes are sequenced in large genome centers. What more, the people who are sequenced are not random individuals picked up on the street, but grouped in as sick versus healthy for many diseases, or tall versus short and even like for the level of bitter taste perception and earwax type.  So, it was discovered that the different letter variations in the genome between individuals, (these differences are called SNP’s) are associated with certain type of diseases or associated with certain traits that are investigated. These variations are in the range of 10 millions or more, still making only a few percentage of the total genome, remember the other 99.5% or so we are identical. The fascinating fact is that some groups of these DNA letter variations are connected together, so if we study let say one million of these variations that would represent all 10 million variations. Once these different DNA letter variations are identified and associated with certain meaning, finally we got to the point when we don’t just sequence DNA but start to understand the meaning of those letters coming out of our genome.  From here it is just engineering technology to fabricate those chips, with a million representative variant SNP’s, put my DNA in there to test against those selected variations and ask what my genotype is.

I did ask what my genotype was. Twice. Two different companies delivered my genotype, not by sequencing, that is still kind of expensive but by those genotyping chips. I was absolutely fascinated to see my genes, finally. I love my genes, but now I can touch them, I can hug them. If something is wrong in my genes, I still love them. It is the love that does not need to be explained. I love them because they are mine.  No matter what. Well, I love you all my readers, because we are still 99.5% identical, but I am so excited right now, please, let me concentrate on myself for a second.  Out of my one million tested and identified SNP’ there are 254 of them that are associated with certain known conditions. They studied my health risks, some inherited conditions I have, also my drug response to certain medications and finally some traits I have and fun to know about.

I have 41.8% chance of acquiring Venous Thromboembolism as opposed to the average 12.3% in my ethnic group that means my personal risk factor of Venous Thromboembolism is 3.39 times higher than the average, based on my SNP genotype. I also have 20.8% risk for Age-related Macular Degeneration as opposed to average 6.5%, meaning my risk is 3.18 times higher than the average. I also have some elevated risk for Rheumatoid Arthritis, Restless Legs Syndrome, Esophageal Squamous Cell Carcinoma, rare form of Stomach Cancer, Primary Biliary Cirrhosis and Scleroderma. I am also more sensitive to warfarin and I carry two SNP’s for inherited conditions, like Hemochromatosis and Connexin 26-Related Sensorineural Hearing Loss.

Well, I have known for long time, that on my long flights my legs are swollen. They say it is normal. Not for me, because I have elevated risk of Venous Thromboembolism. I have to be very careful. When I fly on long intercontinental trips I manage to drink 5-6 drinks, double whisky and a beer for start, two glasses of vine for dinner and a brandy after dinner. After the brandy I am ready to make myself comfortable to sleep for 6-7 hours, sitting in the economy chair, not moving at all. Sure, 6 drinks help. After the 12 hours flight I got out of the airplane on elephant limbs. Now I know my elevated risk for Venous Thromboembolism, what can I do? No drinking on long flight. Probably my beautiful sleep will be disturbed, helped by the alcohol on the uncomfortable narrow seat, I would wake up frequently, step out for some stretching my legs and finish my trip less alcohol happy, but with no swollen legs either, lowering my risk for Venous Thromboembolism, significantly. That is exactly what I did last night on my 12 hours flight to the southern hemisphere. It is very important to acknowledge the fact that knowing my genes, knowing my associated disease risk I made a decision and acted accordingly.

I also did my Amsler Grid test for Age-related Macular Degeneration. True, my right eye gets blurry, so I might have an early stage of AMD. Good news is that in July I passed the DMV test in California, both eyes, I can drive without prescription lenses. I only need my reading glasses. In my more advanced age I might develop AMD in my right eye. Hopefully, I still would be able to see with my left eye, more, the AMD hopefully does not cause total blindness. My health recommendation says: “The good news is that prevention and early detection of AMD can go a long way. Eating lots of dark leafy greens and other brightly colored vegetables will help your eyes get the vitamins they need to stay healthy. Eating fish and nuts, and avoiding red and processed meats, are also associated with lower risk of AMD” Fortunately this is absolutely valid for me, I have been eating this way for more than 7 years by now. I don’t know what will happen to me, but I know my associated disease risk and I am prepared to take it.

I also need to avoid raw oysters and unwashed lettuce because I am highly sensitive for norovirus. Fortunately, I hate raw oysters, I tried once and I don’t need to try it again. I eat a lot of vegetables, all colors, and I always wash them carefully. Also, I am a carrier for two inherited conditions, like Hemochromatosis and Connexin 26-Related Sensorineural Hearing Loss. My two children are free from these conditions and my little grand daughter is as healthy as beautiful she is.

Milk, to my surprise I am supposed to be lactose intolerant, based on my genotype. My lactose intolerance genotype is unexpected because in real life I look like lactose tolerant, I do eat greek yoghurt and cheese every day, sometimes ice cream also, but I never have digestive problems. Well, for sure, I don’t like milk too much, if I drink some milk, I never drink large quantities, maybe a touch for coffee or to accompany bread. Here, we can explain my lactose intolerant genotype and apparently lactose tolerant phenotype dissociation with other unidentified multi-genetic factors or healthy bacterial flora in my gut to digest dairy without a problem.

Coffee. I am a caffeine friend, more than that. I am a fast metabolizer. I love coffee and I love my liver enzyme cytochrome P450 1A2 and I love my AA genotype for SNP called  rs762551. In the morning when I drink my first coffee, something strong between an espresso and the long American coffee, brewed in 98 celsius degree water, I feel the tingling effect going through my body. It lasts for about 30 minutes. That is enough to refresh me for the day and I am ready to work hard or do anything else to make myself productive for the day. Coffee is essential part of this. I have one more coffee during the morning hours to have a second boost, a smaller dose, just to repeat the feeling and the beloved taste of coffee in my mouth. I have my third and last coffee right after lunch. “The study found that fast metabolizers, on the other hand, may have actually reduced their heart attack risk by drinking coffee” That is my bonus.

Alcohol. When I was younger, college years, I got drunk easily, I could not drink in fast pace with my friends, because I got drunk too early, they had to tell me the next day what had happened the night before. During my many more years in my life, unfortunately I practiced enough alcohol drinking so I actually improved my alcohol tolerance. I am not proud of this achievement of mine. As I am getting into my little aging, fortunately, I am loosing this acquired skill. And look at this what I have just learned from genotype analysis of my Alcohol Dehydrogenase (ADH1B). I have the GG SNP for rs1229984, meaning I am a slow alcohol metabolizer. The slow breakdown of alcohol might be the reason that it accumulates in my brain and I get drunk from fewer drinks. The good news is that I am fast for the Aldehyde Dehydrogenase (ALDH2) based on my GG for rs671. This means that the harmful toxic aldehyde clears out of my system fast enough for the second step of alcohol break down so I actually never get the next day disease called hangover. Easily enjoy alcohol in my brain without getting sick on the next day! Dangerous! My genetic constellation makes me 18% on the risk of becoming an alcoholic as opposed to less than 9% for the average. I wish if I had learned this genetic test result sooner, I might have written a few chapter in my EpiGeneBook, differently.

I am better today than I was yesterday, because I know. I know that I need to move my legs on long flights. I know that alcohol is dangerous for me. I know that I need to continue eating dark green leafs and nuts and all the goodies to make me healthier. I know coffee is good for me. I know why I don’t like milk and why I am disgusted by oyster. Today, I know only 254 answers to my understanding of my own genes. The answers are not even absolute, only associations. Still this knowledge has already changed my life. I am better today, because based on this knowledge I can actually change my life.

Tibor Gyuris

Personal Genomics Blogger

2013. October 2

“Knowledge is always good and certainly always better than ignorance.”–Sergey Brin

“Possideo genes ergo sum”—Anonymous Roman Philosopher

….stay tuned for more personal nutrigenomics data….