Objective-Gender and ethnicity modulate the phenotypic expression of cardiovascular risk factors. In particular, men are at higher risk of developing cardiovascular diseases compared to women, whereas black populations of African origin display reduced mortality from coronary heart disease (CHD) as compared to both whites and South Asians. Because the male-specific region (MSY) of the human Y chromosome is an obvious candidate for gender-related differences in the development of cardiovascular

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... iseases, we aimed to identify genetic variants of MSY influencing cardiovascular risk profile in different ethnic groups. Methods and Results -We genotyped 4 polymorphisms of MSY (HindIIIϮ, rs768983 of TBL1Y, rs3212292 of USP9Y, and rs9341273 of UTY genes) in 579 men of different ethnic groups (blacks, South Asians, and whites) from UK and in 301 whites in Italy. We found that the TBL1Y A USP9Y A haplotype, present only in blacks in whom it represents the most frequent allelic combinations (AA: nϭ125; all other combinations: nϭ45), was associated with lower levels of triglycerides (Pϭ0.025) and higher levels of HDL-cholesterol (Pϭ0.005) as compared to the other haplotypes. Conclusion-The TBL1Y A USP9Y A haplotype of the Y chromosome, present only in black people of African origin, attributes a favorable lipoprotein pattern, likely to contribute to their reduced susceptibility to coronary heart disease. (Arterioscler Thromb Vasc Biol. 2008;28:1569-1574)