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….
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