on May 29, 2008
Published online before print May 29, 2008, doi: 10.1161/ATVBAHA.108.168641
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Submitted on January 9, 2008
Accepted on May 12, 2008
Genetic Variants of Y Chromosome Are Associated With a Protective Lipid Profile in Black Men
Paola Russo ;
From the Unit of Epidemiology & Population Genetics (P.R., A.S., G.B., F.L.), Institute of Food Sciences, CNR, Avellino, Italy; Clinical Science Research Institute (M.A.M., S.K., F.P.C.), University of Warwick Medical School, Coventry, UK; the Institute of Genetics and Biophysics "Adriano Buzzati-Traverso" (T.E., F.G.), CNR, Naples, Italy; and the Department of Clinical & Experimental Medicine (P.S.), University of Naples "Federico II", Naples, Italy.
* To whom correspondence should be addressed. E-mail: asiani{at}isa.cnr.it.
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 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 diseases, 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 (HindIII±, 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 TBL1YA USP9YA haplotype, present only in blacks in whom it represents the most frequent allelic combinations (AA: n=125; all other combinations: n=45), was associated with lower levels of triglycerides (P=0.025) and higher levels of HDL-cholesterol (P=0.005) as compared to the other haplotypes.
Conclusion—The TBL1YA USP9YA 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.
Key words: Y chromosome • cardiovascular risk • lipoprotein • ethnicity • male