The study, published in The Lancet, focused on genetic markers on the Y chromosome — which is present only in male DNA (women have two X chromosomes) — and found that men with a certain genetic variant were 50% more likely to havecoronary artery disease than those without it. The increased risk was independent of other contributors to heart disease such as age, weight, high cholesterol, high blood pressure and smoking.
Using genetic information on the Y chromosome, an international team of researchers identified 9 different ancient lineages– haplogroups– in 3,233 British men. Two of the haplogroups accounted for nearly 90% of the subjects and men in one of these haplogroups, haplogroup I, had a 50% increase in the risk of coronary artery disease compared to men with other haplotypes. This increase in risk was independent of other known risk factors. The investigators noted that haplogroup I appeared to exert a powerful effect on genes relating to inflammation and immunity. They further noted that haplotype I is generally more prevalent in northern than in southern Europe, and that this distribution is paralleled by an increased risk of coronary artery disease in northern Europe.
The study is exciting for researchers because it gives the role of the Y chromosome new meaning. “The major novelty of these findings is that the human Y chromosome appears to play a role in the cardiovascular system beyond its traditionally perceived determination of male sex”, said principal investigator Dr. Maciej Tomaszewski, a clinical senior lecturer in theUniversity of Leicester department of cardiovascular sciences, in a statement.
Authors concluded, “Our study is the first to evaluate associations between main Y chromosome lineages and CAD as well as its underlying risk factors. It has revealed that the Y chromosome might have a magnified effect on men beyond sex determination despite the small number of genes it harbors in the human genome.”
The authors, however, added that future re-sequencing and functional experiments will be needed to identify the causative variants underlying the increased susceptibility to CAD in carriers of haplogroup I and to decipher complex interplay among human Y chromosome, immunity and cardiovascular disease.