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人类 Y 染色体遗传多态性与心血管疾病危险因素:WOBASZ 队列研究。

Genetic polymorphism of human Y chromosome and risk factors for cardiovascular diseases: a study in WOBASZ cohort.

机构信息

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

出版信息

PLoS One. 2013 Jul 25;8(7):e68155. doi: 10.1371/journal.pone.0068155. Print 2013.

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.

摘要

Y 染色体的遗传变异易导致啮齿动物高血压,而人类的证据则存在矛盾。我们的目的是研究一组 Y 染色体标记在波兰一项基于横断面的心血管危险因素患病率研究(WOBASZ 研究)的队列中的分布。HindIII、YAP Y 染色体变体,先前已被证明影响血压、血脂特征或身高,以及定义主要 Y 染色体单倍群的 SNP,分别在 3026、2783 和 2652 个样本中进行了分型。此外,还分别对 4 个亚组(每组 100 个)进行了 LDL 浓度或血压(BP)极端值的 17 个 STR 面板分型。HindIII 和 YAP 多态性与任何研究性状均无关联。单倍群分布分析显示,HDL 水平与 hg I-M170 之间存在关联(P = 0.02),LDL 水平与 hg F*(xI-M170、J2-M172、K-M9)之间存在关联(P = 0.03),BMI 与 hg N3-Tat 之间存在关联(P = 0.04)。STRs 分析未显示出统计学上的显著差异。由于所有这些关联在 Bonferroni 校正后均失去统计学意义,因此我们得出结论,Y 染色体遗传变异(由 HindIII、YAP 或主要 Y 染色体单倍群定义)在决定波兰人心血管风险方面的主要作用不太可能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f72/3723826/f70acae2f3f6/pone.0068155.g001.jpg

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