Do genetics play a role in gout?
Some breaking news hit the newswires this past week about gout and genetics. This coincided with the passing of my father, Angelo Koulouris, who died of a heart attack on November the 7th, 2013 at the age of 58, inside his 1 bedroom apartment. His body was found 3 days later from the landlord and he was transported to the morgue since they didn’t have any contact information from any family members.
I was contacted by his ex-girlfriend who had passed by the apartment to see him and was told the devastating news by the landlord. She contacted me on November 27! So for about 3 weeks I didn’t even know that my own father was dead! I quickly contacted his brothers (my uncles) from New York and they arrived the next day so we can arrange a viewing for him and burial on the following day.
You see my father was an alcoholic from his early twenties which caused the divorce between my mother and him while I was just 3 years old. He made contact with me while I was 10 years old and we would see each other from time to time, he bought me my first bass guitar and paid for my lessons back when I dreamed of becoming a musician, we went to hockey games together and we would go over to see his sister which is my aunt and hang out with my cousins. Unfortunately, as the years went by, he steadily drank more since he lived alone and was one depressed man, always thinking about days past and never really focused on the present nor the future.
The past decade was really rough where he would go in and out of hospitals every single year. His liver, kidneys, stomach and brain were all slowly deteriorating, I tried to convince him to seek help through Alcoholics Anonymous or through rehab but he would have none of that. In his mind, he thought he could beat this thing himself. It didn’t help that he was also a heavy smoker, smoking about two packs a day and never took care of himself to go see a doctor for a basic check-up.
Whenever he called me, it was always about tricking me into giving him some money for the bus or some other bullshit excuse but I knew the real reason was so he can buy alcohol. He never called to say hello, to see how I was doing, alcohol had engulfed his whole life, and it’s all he thought about, how to get his next drink. The last few years of his life we barely talked, he would simply disappear and reappear whenever he hit rock bottom, usually the hospital would contact me that he had been admitted in the emergency. He would move every year from apartment to apartment since he would fail to pay rent and spent his welfare check on booze.
What I think probably killed him was the birth of my son this past July, once I had told him he was a grandpa, it got him even more depressed and probably accelerated his drinking, cause I wanted him to see my son but he was too embarrassed to visit due to the fact that he didn’t have any money to buy him a gift according to Connie, his ex-girlfriend who helped my dad out a lot during the past few years, providing him with meals and shelter whenever he wanted, or after he got kicked out from an apartment. This must’ve eaten at him inside and killed him.
Back in the beautiful island of Cephalonia, Greece; my grandfather also was known to drink lots of wine and to avoid getting a beating from my grandmother, he would wake up earlier than her and put his mouth under the barrel and wine would pour into his mouth. In the Greek villages, it was in the tradition for the men to be heavy drinkers, especially of wine which makes me think, do genes play a role in my bout with gout, is my father, grandfather and previous genealogy responsible for my gout? Although my father was never diagnosed with gout, were the family genes altered over the years from this increased consumption of alcohol causing perhaps a higher sensitivity to hyperuricaemia, making gout hereditary.
Studies on genetics and gout
According to a study published in Annals of Rheumatic Diseases states that individuals who have either parents, children, or siblings with gout, those same individuals have a 1.91 increased risk of developing gout for men and a 1.97 for women, meaning the risk is twice as high!
For individuals who have grandparents, uncles, aunts, nieces and nephews (in the second degree as we say), those individuals had a 1.27 increased risk while women had 1.40 according to the researchers which conducted this population-based study in Taiwan, where gout is on the rise. The study population included some 11 million men and 11 million women who enrolled in a database in 2004 and which 802,765 men and 242,294 women had later been diagnosed with gout.
The study also found that as more relatives in the family had gout, the more increased risk you faced of developing the disease in your lifetime. The study also concluded that biological relatives tended to share similar environmental influences like obesity, hypertension, diets high in purines, alcohol and lifestyle risk factors in addition to genes.
Just like my father and grandfather shared a similar lifestyle of drinking excess alcohol. The sum of these factors probably may have caused my bout with gout since in my late teens and early twenties I partied pretty hard, drinking very often thinking I was immortal and that nothing could hurt me.
Genes do contribute about 60% of genetic variability in uric acid level. Three genes called SLC2A9, SLC22A12 and ABCG2 have been found commonly to be associated with gout, and variations in them can approximately double the risk. The researchers concluded that further studies in other countries and populations should be undertaken to confirm these results since the study was limited to Taiwan but the large population and minimal selection bias was the strength of this study.
Another study published in Nature Genetics analyzed the genetic data of 140,000 people from different countries also concluded that genes play a big role when it comes to your chances of developing the disease. Dr Veronique Vitart, from the Medical Research Council Human Genetics Unit at the University of Edinburgh stated “Abnormal levels of uric acid have been associated with various common diseases and conditions, but causal relationships are not always clear. Gaining insight into the genetic components of uric acid levels offers a very useful tool to tackle these issues and to further our understanding of these conditions.”
A recent study from Japan analyzed the genes of 1600 Japanese male gout patients and 1300 Japanese males who were healthy and their findings included an increased risk of developing gout in those males who had gene variations that weakened the ability of the kidneys and intestinal tract to remove uric acid from the body.
Enter Sharon Moalem
Conventional wisdom does dictate that our genes are generally fixed at conception and can’t be altered afterwards. Dr. Sharon Moalem, MD, PhD has researched and written a book titled “Inheritance: How our genes change our lives and our lives change our genes” in which he argues that genetic traits can in fact change and how we decide to live influences and can alter our DNA.
Our genes are surprisingly sensitive and Dr. Moalem describes this as “thousands upon thousands of little light switches, some are turning on while others are turning off”. Think how changing your diet can alter your DNA for your future offspring. Moalem also argues that we are increasingly likely to be able to change our genetic inheritances. This book is getting a lot of buzz lately and I advise you that you check it out.
In conclusion, about one in four gout sufferers have a family history of the illness and the enzyme that helps to break down purines in the body is missing. Maybe just maybe that is the enzyme missing in my body as well and is directly related to my family genes.
Rest in Peace Dad.
 Merriman, TR; Dalbeth, N (2011). “The genetic basis of hyperuricaemia and gout.”.Joint, bone, spine : revue du rhumatisme 78 (1): 35–40.
Posted by Spiro Koulouris