Does the Y chromosome play a role in venous thrombotic disease?

By Robin Liang, PhD student at TREC

Venous thrombosis (VT) is a common disease, with men having a yet unexplained higher risk of both a first and recurrent event. Previously it had been shown that certain Y ancestral lineages, or haplogroups, may have a predisposing effect on several cardiovascular diseases, including atherosclerosis and coronary artery disease. A research group in Leiden, the Netherlands, have explored the association between Y chromosome haplogroups and the risk of first and recurrent venous thromboembolism.

Men that had a DNA sample taken for the Multiple Environmental and Genetic Assessment of risk factors for venous thrombosis (MEGA) study, a large population-based case-control study, were included in the study population. The continental origin of the patients was determined by self-reported country of birth of the patients and their parents, and restricted to men of Northwestern European origin for this study. There were a total of 1729 male patients and 2037 male control subjects included for first VT risk and 1645 patients included for association analysis for recurrent VT risk.

In the study, 13 different Y ancestral lineages were observed among all 3742 men included in the study, of which 6 groups (R1a, R1b, E, G, I, J) made up 98% of the Y lineages. After careful analysis, no clear associations were found between any of the major Northwestern European Y haplotypes in this study and the risk of a first VT or the risk of recurrent VT. Despite the limited sample size of the study, the research group concludes that Y-linked variation is unlikely to explain the sex difference in risk for VT.

Unlike previously studied cardiovascular diseases, there was no association found between Y–linked variation and risk for venous thrombosis. This could be due to differences in mechanisms of disease development, reminding us that arterial and venous thrombosis are separate diseases that share some risk factors.

Reference: de Haan H.G., van Hylckama Vlieg A., van der Gaag K.J., de Knijff P., Rosendaal F.R. Male-specific risk of first and recurrent venous thrombosis: a phylogenetic analysis of the Y chromosome. Journal of Thrombosis and Haemostasis. 2016, Aug 6.

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