Lynch Amy I, Arnett Donna K, Pankow James S, Miller Michael B, North Kari E, Eckfeldt John H, Hunt Steven C, Rao Dabeeru C, Djoussé Luc
Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.
Hum Genet. 2007 Aug;122(1):33-40. doi: 10.1007/s00439-007-0370-y. Epub 2007 May 10.
Evidence shows that an elevated pulse pressure (PP) may lead to an increased risk of cardiovascular morbidity and mortality. There is also evidence that PP is a sexually dimorphic trait, and that genetic factors influence inter-individual variation in PP. The aim of this project was to assess the genotype-by-sex interaction on PP in a sample of mostly hypertensive African American and White participants using candidate genes involved in the renin-angiotensin-aldosterone system. Subjects were participants in the HyperGEN Study, including men (43%) and women (57%) over the age of 55 years (mean age = 65). Candidate gene polymorphisms used were ACE insertion/deletion (1,789 subjects genotyped) and AGT-M235T (1,800 subjects genotyped). We employed linear regression methods to assess the genotype-by-sex interaction. For ACE, genotype-by-sex interaction on PP was detected (P = 0.04): the "D/D" genotype predicted a 2.2 mmHg higher pulse pressure among women, but a 1.2 mmHg lower PP among men, compared to those with an "I" allele, after adjusting for age, weight, height, ethnicity, and antihypertension medication use. A similar interaction was found for systolic blood pressure. The genotype-by-sex interaction was consistent across ethnicity. The interaction was evident among those on antihypertensive medications (P = 0.05), but not among those not taking such medications (P = 0.55). In our analysis of AGT, no evidence of a genotype-by-sex interaction affecting PP, SBP, or DBP was detected. This evidence for a genotype-by-sex interaction helps our understanding of the complex genetic underpinnings of blood pressure phenotypes.
有证据表明,脉压(PP)升高可能导致心血管疾病发病率和死亡率增加。也有证据表明,PP是一种性别二态性特征,且遗传因素会影响个体间PP的差异。本项目的目的是,在主要为高血压非裔美国人和白人参与者的样本中,使用肾素 - 血管紧张素 - 醛固酮系统相关的候选基因,评估性别与基因型的交互作用对PP的影响。研究对象为参加HyperGEN研究的人员,包括55岁以上的男性(43%)和女性(57%)(平均年龄 = 65岁)。所使用的候选基因多态性为ACE插入/缺失(对1789名受试者进行基因分型)和AGT - M235T(对1800名受试者进行基因分型)。我们采用线性回归方法评估性别与基因型的交互作用。对于ACE,检测到性别与基因型的交互作用对PP有影响(P = 0.04):在调整年龄、体重、身高、种族和抗高血压药物使用情况后,与携带“I”等位基因的人相比,“D/D”基因型在女性中预测脉压高2.2 mmHg,但在男性中预测PP低1.2 mmHg。收缩压也发现了类似的交互作用。性别与基因型的交互作用在不同种族中是一致的。这种交互作用在服用抗高血压药物的人群中明显(P = 0.05),但在未服用此类药物的人群中不明显(P = 0.55)。在我们对AGT的分析中,未检测到性别与基因型的交互作用对PP、收缩压或舒张压有影响的证据。这种性别与基因型交互作用的证据有助于我们理解血压表型复杂的遗传基础。