Abdollahi M R, Gaunt T R, Syddall H E, Cooper C, Phillips D I W, Ye S, Day I N M
Human Genetics Division, Duthie Building, Southampton General Hospital, Tremona Rd, Southampton, SO16 6YD, UK.
J Med Genet. 2005 May;42(5):396-401. doi: 10.1136/jmg.2004.026716.
The renin angiotensin system is important in the regulation of vascular tone and fluid and electrolyte balance. The angiotensin converting enzyme gene (ACE) genotype has been shown to affect exercise response and glucose load response dependent on birth weight. Angiotensin II type I receptor (AGTR1) A1166C has previously been associated with the development of hypertension and coronary disease, but its metabolic effects have not been investigated.
AGTR1 A1166C was genotyped by allele specific PCR in 378 individuals from Hertfordshire, UK, who had been characterised for metabolic syndrome traits.
Genotype counts were: AA, 183; AC, 170; CC, 25, consistent with Hardy-Weinberg equilibrium. The CC genotype was associated with significantly lower body mass index (by 1.7 units) in men (p = 0.03), and the same magnitude effect in women with significant lower weight in both genders (p = 0.01), also lower waist circumference and waist-hip ratio (p = 0.01) in men, with a trend for lower waist circumference in women also. Additionally, the CC genotype and/or C allele was associated with lower fasting glucose and insulin, and 30 and 120 min glucose in men (respectively, p = 0.08, 0.04, 0.01, 0.06). Lower means of systolic blood pressure, pulse pressure, cholesterol, and fasting triglyceride were also observed for the CC genotype in both genders though these were not statistically significant.
The AGTR1 1166 CC genotype appears to predispose to favourable anthropometric and metabolic traits, relative to cardiovascular risk.
肾素血管紧张素系统在调节血管张力以及体液和电解质平衡方面起着重要作用。血管紧张素转换酶基因(ACE)基因型已被证明会影响运动反应和取决于出生体重的葡萄糖负荷反应。血管紧张素II 1型受体(AGTR1)A1166C先前已与高血压和冠状动脉疾病的发生相关,但尚未对其代谢作用进行研究。
采用等位基因特异性PCR对来自英国赫特福德郡的378名具有代谢综合征特征的个体进行AGTR1 A1166C基因分型。
基因型计数为:AA,183;AC,170;CC,25,符合哈迪-温伯格平衡。CC基因型与男性显著较低的体重指数(低1.7个单位)相关(p = 0.03),在女性中也有相同程度的影响,且男女体重均显著较低(p = 0.01),男性的腰围和腰臀比也较低(p = 0.01),女性的腰围也有降低的趋势。此外,CC基因型和/或C等位基因与男性较低的空腹血糖和胰岛素水平以及30分钟和120分钟时的血糖水平相关(分别为p = 0.08、0.04、0.01、0.06)。在男女中,CC基因型的收缩压、脉压、胆固醇和空腹甘油三酯的均值也较低,尽管这些差异无统计学意义。
相对于心血管风险,AGTR1 1166 CC基因型似乎易导致有利的人体测量和代谢特征。