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GenSalt研究:研究参与者的原理、设计、方法及基线特征

GenSalt: rationale, design, methods and baseline characteristics of study participants.

出版信息

J Hum Hypertens. 2007 Aug;21(8):639-46. doi: 10.1038/sj.jhh.1002207. Epub 2007 Apr 19.

Abstract

Hypertension is a complex disorder influenced by genetic and environmental determinants and their interactions. The objectives of the Genetic Epidemiology Network of Salt Sensitivity (GenSalt) are to localize and identify genes related to blood pressure (BP) responses to dietary sodium and potassium intervention. GenSalt utilizes a family feeding-study design. Each family was ascertained through a proband with untreated prehypertension or stage-1 hypertension in rural China. A medical history, lifestyle risk factors and responses to cold pressor tests, were obtained at baseline visits while BP, weight, blood and urine specimens were collected at baseline and follow-up visits. The dietary intervention included a 7-day low-sodium feeding (51.3 mmol/day), a 7-day high-sodium feeding (307.8 mmol/day) and a 7-day high-sodium feeding with an oral potassium supplementation (60 mmol/day). Microsatellite markers for genome-wide linkage scan and single nucleotide polymorphism (SNP) markers in candidate genes will be genotyped. Overall, 3153 participants from 658 families were recruited for GenSalt. The mean systolic and diastolic BPs were 128.0 and 80.3, 111.6 and 71.0, 112.6 and 72.6, 106.6 and 65.3 and 136.7 and 75.0 mm Hg for probands, siblings, spouses, offspring and parents, respectively. The mean urinary excretion of sodium and potassium were 232.5 and 38.6, 222.9 and 38.2, 213.1 and 37.8 and 207.3 and 36.0 mmol/24-h for probands, siblings, spouses and offspring, respectively. Our study will identify novel genes that influence significantly the effect of dietary sodium and potassium intake on BP. This information is useful for development of targeted intervention for the prevention and treatment of hypertension.

摘要

高血压是一种受遗传和环境因素及其相互作用影响的复杂疾病。盐敏感性遗传流行病学网络(GenSalt)的目标是定位和识别与饮食中钠和钾干预引起的血压(BP)反应相关的基因。GenSalt采用家庭喂养研究设计。每个家庭通过在中国农村地区患有未经治疗的高血压前期或1期高血压的先证者确定。在基线访视时获取病史、生活方式风险因素以及对冷加压试验的反应,同时在基线和随访访视时收集血压、体重、血液和尿液样本。饮食干预包括为期7天的低钠饮食(51.3 mmol/天)、为期7天的高钠饮食(307.8 mmol/天)以及为期7天的高钠饮食并口服钾补充剂(60 mmol/天)。将对用于全基因组连锁扫描的微卫星标记和候选基因中的单核苷酸多态性(SNP)标记进行基因分型。总体而言,GenSalt招募了来自658个家庭的3153名参与者。先证者、兄弟姐妹、配偶、后代和父母的平均收缩压和舒张压分别为128.0和80.3、111.6和71.0、112.6和72.6、106.6和65.3以及136.7和75.0 mmHg。先证者、兄弟姐妹、配偶和后代的钠和钾平均尿排泄量分别为232.5和38.6、222.9和38.2、213.1和37.8以及207.3和36.0 mmol/24小时。我们的研究将识别出对饮食中钠和钾摄入量对血压的影响有显著影响的新基因。这些信息对于开发预防和治疗高血压的靶向干预措施很有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5054/2377400/1f9b6137d4cf/nihms39357f1.jpg

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