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Y chromosome variant linked to heart disease

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9th Feb 2012
Lynnette Hoffman   all articles by this author

MEN with a particular variant on their Y chromosome have a 50% increased risk of coronary artery disease (CAD) compared with men without the variant, a study suggests.

The heightened risk occurs independently of other known cardiovascular risk factors, including blood pressure, cholesterol, age, body-mass index, diabetes, smoking, alcohol consumption, socioeconomic status, or circulating concentrations of C-reactive protein.

The study authors genotyped 11 markers of the male-specific region of the Y chromosome in more than 3200 biologically unrelated British men from three cohorts.

They then tracked each Y chromosome back into one of 13 ancient lineages defined as haplogroups.

Of nine haplogroups identified, two accounted for roughly 90% of the Y chromosome variants among British men.

One of those, called haplogroup I, occurs in 15–20% of the British male population, and carries about a 50% higher age-adjusted risk of CAD compared with other Y chromosome lineages.

Further data showed that men’s predisposition to CAD might be at least partially determined by the paternal lineage of their Y chromosome – and that the effect on risk of coronary artery disease is most likely mediated through the immune response.

In a linked commentary, Dr Virginia Miller of the Mayo Clinic wrote that, “it would be interesting to examine whether existing algorithms assessing individual risk of coronary artery disease for men could be improved by changing the question 'Did your mother or father have a heart attack before age 60?' to 'Did your father have a heart attack before the age of 60?'”

“Both sex and family do matter in inheritance of coronary artery disease," she concluded.

Lancet 2012; online 9 Feb

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