The study published in The Lancet, and titled ‘Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome’ establishes a connection as to why fathers transfer their coronary artery disease (CAD) to their sons. The study employed a unique genetic analysis of the common variant on the Y chromosome to shed some light on the sexual dimorphism exhibited by CAD. The British Heart Foundation funded the study.
Background: The Y chromosome has the least number of genes. The main function of the Y chromosome is imparting male characteristics. The male specific region (MSY) of the Y chromosome codes for over 27 proteins. The MSY can be classified into 20 major haplogroups. The study examined the relationship between Y chromosome haplogroups and risk of coronary artery disease in white British men. They studied subjects recruited in the BHF-FHS, British Heart Foundation Family Heart Study and the WOSCOPS, West of Scotland Coronary Prevention Study and the Cardiogenics Study.
Methods: Over 3000 men from the 3 British cohort studies were analyzed. Their Y chromosome was genotyped with 11 markers, specific to the Y chromosome. Each of the Y chromosomes was traced back into 13 ancient lineages or haplogroups. Each haplogroup and their association with risk of CAD were studied. The functional analysis of the effect of Y chromosome on monocyte and macrophage transcriptome was also studied.
Study Results : The team of researchers from the University of Leicester found that:
- Majority (read 90%) of British Y chromosome belonged to the haplogroup I and haplogroup R1b1b2 groups.
- The risk of CAD in men with haplogroup I Y chromosome was 50% higher than other men.
- This high risk was not dependent on traditional risk factors like high blood pressure, high cholesterol, and smoking.
- Investigators feel that this increased risk is due to the effect, the haplogroup I Y chromosome has on the immune system and inflammation.
Conclusion: The Y chromosome is linked to the risk of coronary artery disease in men of European origin.
The finding that Y chromosome has important roles in addition to sex differentiation is an important discovery. The association of the Y chromosome with disease pathology is indicative of the scope of research that may open up new avenues of treatments and medications that is unexplored. This could well channelize the understanding of coronary artery disease and genetic variants in men.
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