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.
Abstract

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