Abstract

Genetic variants of Y chromosome predispose to hypertension in rodents, whereas in humans the evidence is conflicting. Our purpose was to study the distribution of a panel of Y chromosome markers in a cohort from a cross-sectional population-based study on the prevalence of cardiovascular risk factors in Poland (WOBASZ study). The HindIII, YAP Y chromosome variants, previously shown to influence blood pressure, lipid traits or height, as well as SNPs defining main Y chromosome haplogroups, were typed in 3026, 2783 and 2652 samples, respectively. In addition, 4 subgroups (N∼100 each) representing extremes of LDL concentration or blood pressure (BP) were typed for a panel of 17 STRs. The HindIII and YAP polymorphism were not associated with any of the studied traits. Analysis of the haplogroup distribution showed an association between higher HDL level and hg I-M170 (P = 0.02), higher LDL level and hg F*(xI-M170, J2-M172, K-M9) (P = 0.03) and lower BMI and hg N3-Tat (P = 0.04). Analysis of STRs did not show statistically significant differences. Since all these associations lost statistical significance after Bonferroni correction, we conclude that a major role of Y chromosome genetic variation (defined by HindIII, YAP or main Y chromosome haplogroups) in determining cardiovascular risk in Poles is unlikely.

Highlights

  • Genetic variants of Y chromosome have been shown to predispose to hypertension in a series of rodent experiments [1,2,3] with a recent suggestion of direct involvement of variation in the SRY locus [4,5]

  • A variant of Y human chromosome defined by HindIII polymorphism in the centromeric region has been associated with hypertension in males from the general population of Australia [7], Scotland, Poland [8,9] and the US [10], whereas in Spain an association limited to myocardial infarction patients was found [11]

  • Consistent with this, trends for association between blood pressure/lipid profile and Y chromosome variants were observed among the Japanese, here the associated variants were defined by YAP polymorphism [12,13]

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Summary

Introduction

Genetic variants of Y chromosome have been shown to predispose to hypertension in a series of rodent experiments [1,2,3] with a recent suggestion of direct involvement of variation in the SRY locus [4,5]. A variant of Y human chromosome defined by HindIII polymorphism in the centromeric region has been associated with hypertension in males from the general population of Australia [7], Scotland, Poland [8,9] and the US [10], whereas in Spain an association limited to myocardial infarction patients was found [11]. A large study in a Polish population reported that in addition to its effect on blood pressure the HindIII variant influenced cholesterol concentration, indicating a potential broad role of Y chromosome polymorphism in determining cardiovascular risk [9]. The association between Y chromosome HindIII polymorphism and hypertension or lipid profile remains controversial as it was not observed in recent relatively large studies encompassing Caucasians from the UK [14,15], Belgium or Italy [14]. Lack of effect of HindIII Y chromosome variants on cardiovascular risk factors was reported in another recent study in Caucasians (UK, Italy) and South Asians (UK) in the same study a haplotype defined by other markers (rs768983 and rs3212292) was linked with a favorable lipoprotein pattern in Blacs [16]

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