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Published on: October 12, 2017
Genetic variants of Y chromosome are associated with a protective lipid profile in black men
Paola Russo1, Alfonso Siani, Michelle A Miller
1Unit of Epidemiology & Population Genetics, Institute of Food Sciences, CNR, Via Roma 52A/C, 83100, Avellino, Italy.
Insights
A specific Y chromosome haplotype (TBL1Y(A) USP9Y(A)) found in black men is linked to healthier cholesterol levels. This genetic finding may explain their lower risk of coronary heart disease (CHD).
Area of Science:
- Genetics and Cardiovascular Health
- Population Health and Disease Susceptibility
- Human Evolutionary Biology
Background:
- Cardiovascular disease risk factors are influenced by gender and ethnicity.
- Men generally face higher cardiovascular disease risks than women.
- Black populations exhibit lower coronary heart disease (CHD) mortality compared to white and South Asian populations.
Purpose of the Study:
- Investigate genetic variants within the male-specific region (MSY) of the Y chromosome.
- Identify MSY variants that influence cardiovascular risk profiles across different ethnic groups.
- Determine the genetic basis for observed ethnic differences in cardiovascular disease susceptibility.
Main Methods:
- Genotyped four MSY polymorphisms (HindIII+/-, TBL1Y, USP9Y, UTY) in 579 men from the UK (black, South Asian, white) and 301 white men from Italy.
- Analyzed the association between specific haplotypes and cardiovascular risk markers.
- Focused on the TBL1Y(A) USP9Y(A) haplotype prevalent in black individuals.
Main Results:
- The TBL1Y(A) USP9Y(A) haplotype was exclusively found in black men, representing the most common allelic combination in this group.
- This specific haplotype was significantly associated with lower triglyceride levels (P=0.025).
- Individuals with the TBL1Y(A) USP9Y(A) haplotype also showed higher HDL-cholesterol levels (P=0.005) compared to other haplotypes.
Conclusions:
- The TBL1Y(A) USP9Y(A) haplotype on the Y chromosome, unique to black men of African origin, confers a favorable lipoprotein profile.
- This genetic predisposition likely contributes to the reduced susceptibility to coronary heart disease observed in this population.
- Highlights the role of specific Y chromosome genetic variants in ethnic disparities in cardiovascular health.
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.
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 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.
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