Sex, genes and blood pressure
Sex, genes and blood pressure
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DOI：
10.1046/j.1440-1681.2001.03579.x
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发表时间：
2001-12-01
影响因子：
2.9
通讯作者：
Harrap, SB
中科院分区：
文献类型：
--
作者：
Ellis, JA;Wong, ZY;Harrap, SB
1.在一生的大部分时间里，男性的平均血压都高于女性。这种性别二分法可能与遗传因素有关，包括X和Y性染色体以及控制性类固醇的基因。男女之间的生理差异也可能与性别内血压的数量变化有关。本综述整理了我们发表的和新的与维多利亚家庭心脏研究中血压相关的性别相关遗传数据。其中包括X染色体的多点定量连锁分析以及Y染色体单核苷酸多态性（SNP）和编码雄激素受体（AR）、雌激素受体α（ER α）、5 α-还原酶I型和II型（SRD 5A 1和SRD 5A 2）和芳香酶（CYP 19）的基因的遗传关联研究。3.收缩压（SBP）与X染色体上包含AR基因的区域相关（Z = 3.3，全基因组P < 0.05），而Y染色体与舒张压（DBP; P = 0.03）相关。在新的分析中，我们在369名男性中观察到AR和DBP的SNP之间可能存在关联（基因型A和基因型B分别为84.5和82.1 mmHg; P = 0.06），并且Y染色体单倍型和男性AR SNP之间存在显著关联（P = 0.01），极端组之间的DBP差异接近6 mmHg。在男性中，SRD 5A 1和ERα基因多态性分别与DBP和SBP相关.研究结果表明，与性表型相关的基因可能与血压的正常变化有关，即使在性别之间也是如此。需要进一步的遗传和生理分析来证实这些观察结果，并确定作用机制和任何相互作用的性质。
1. Throughout most of life, males have higher average blood pressures than females. This sexual dichotomy may be related to genetic factors including the X and Y sex chromosomes and genes that control sex steroids. Resultant physiological differences between men and women may also be relevant to the quantitative variation of blood pressure within the sexes.2. The present overview collates our published and novel sex-related genetic data in relation to blood pressure from the Victorian Family Heart Study. These include a multipoint quantitative linkage analysis of the X chromosome and genetic association studies of single nucleotide polymorphisms (SNP) of the Y chromosome and genes encoding the androgen receptor (AR), oestrogen receptor alpha (ERalpha), 5alpha-reductase types I and II (SRD5A1 and SRD5A2) and aromatase (CYP19).3. Systolic blood pressure (SBP) was linked (Z = 3.3, genome-wide P < 0.05) to a region of the X chromosome that encompassed the AR gene and the Y chromosome was associated with diastolic blood pressure (DBP; P = 0.03). In new analyses, we observed a possible association between a SNP in AR and DBP in 369 males (84.5 vs 82.1 mmHg for genotype A vs genotype B, respectively; P = 0.06) and a significant association between haplotypes of the Y chromosome and AR SNP in males (P = 0.01) with a difference of nearly 6 mmHg DBP between extreme groups. Associations were also observed for polymorphisms of SRD5A1 and ERα with DBP and SBP in males, respectively.4. The findings indicate that genes related to sexual phenotypes may be relevant to the normal variation in blood pressure, even within the sexes. Further genetic and physiological analyses will be required to confirm these observations and to determine the mechanisms of action and the nature of any interactions.