Genetic variants of Y chromosome are associated with a protective lipid profile in black men.
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 diseases, we aimed to identify genetic variants of MSY influencing cardiovascular risk profile in different ethnic groups.


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 TBL1Y(A) USP9Y(A) 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.


CONCLUSIONS
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.
Unit of Epidemiology & Population Genetics, Institute of Food Sciences, CNR, Via Roma 52A/C, 83100, Avellino, Italy.
Paola
P
Russo
Alfonso
A
Siani
Michelle A
MA
Miller
Sharada
S
Karanam
Teresa
T
Esposito
Fernando
F
Gianfrancesco
Gianvincenzo
G
Barba
Fabio
F
Lauria
Pasquale
P
Strazzullo
Francesco P
FP
Cappuccio
D044466:Asian People; D044383:Black People / Q000235:genetics*; D008076:Cholesterol, HDL / Q000097:blood / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D003327:Coronary Disease / Q000235:genetics*; D003430:Cross-Sectional Studies; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D015778:Minor Histocompatibility Antigens; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015293:Transducin / Q000235:genetics; D014280:Triglycerides / Q000097:blood / Q000235:genetics*; D043222:Ubiquitin Thiolesterase / Q000235:genetics; D044465:White People
D008076:Cholesterol, HDL; D015778:Minor Histocompatibility Antigens; C119542:TBL1X protein, human; D014280:Triglycerides; C481724:USP9Y protein, human; D043222:Ubiquitin Thiolesterase; D015293:Transducin