Genetic markers at the leptin (OB) locus are not significantly linked to hypertension in African Americans
Genetic markers at the leptin (OB) locus are not significantly linked to hypertension in African Americans
复制标题
DOI：
10.1161/01.hyp.31.6.1230
复制
发表时间：
1998-06-01
期刊：
影响因子：
8.3
通讯作者：
Menon, AG
中科院分区：
文献类型：
--
作者：
Onions, KL;Hunt, SC;Menon, AG
体重指数（BMI）的增加与人群中血压的升高相关。为了研究瘦素基因（OB）在非裔美国人原发性高血压中的作用，我们对一组103名高血压非裔美国人同胞进行了影响同胞对分析，使用4个高度多态性标记在人类瘦素基因座。没有证据表明这些标记物和原发性高血压的表型之间的联系，无论是在这些同胞或在一个严重肥胖的子集的46个同胞，其中每个同胞的BMI大于或等于美国人口的第85百分位数。使用BMI而不是高血压作为一个数量性状，我们发现标记D 7S 504（P=0.029），但不为其他标记显着的连锁。该标记物在超重同胞亚组中的显著性加强（P=0.001），并且其他三个标记物的P值有降低的趋势。然而，同时使用所有四个标记的多点分析，以估计BMI和瘦素基因座之间的联系，并没有表现出统计学显着的关系。通过单链构象多态性分析瘦素基因编码区（外显子2和3），发现在氨基酸45处存在罕见的Ile-Val多态性，但未发现其他改变。这些结果表明，OB基因是不是一个主要的贡献者原发性高血压的表型在非洲裔美国人，虽然一个轻微的贡献，在这个组中的极端肥胖的表型不能排除。
Increased body mass index (BMI) has been correlated with increased blood pressure in human populations. To examine the role of the leptin gene (OB) in essential hypertension in African Americans, we performed affected sib pair analysis on a set of 103 hypertensive African American sibships using four highly polymorphic markers at the human leptin locus. No evidence of linkage was detected between these markers and the phenotype of essential hypertension either in these sibships or in a severely obese subset of 46 sibships in which each sibling had a BMI greater than or equal to 85th percentile for the US population. Using BMI rather than hypertension as a quantitative trait, we found significant linkage for the marker D7S504 (P=0.029) but not for the other markers. Significance strengthened in the overweight subset of sibships for this marker (P=0.001), and there was a trend of lower P values for the other three markers. However, multipoint analysis with the use of all four markers simultaneously to estimate linkage between BMI and the leptin locus did not demonstrate a statistically significant relationship. Analysis of the coding region of the leptin gene (exons 2 and 3) by single-strand conformational polymorphism revealed a rare Ile-Val polymorphism at amino acid 45 but revealed no other alterations. These results suggest that the OB gene is not a major contributor to the phenotype of essential hypertension in African Americans, although a minor contribution to the phenotype of extreme obesity in this group cannot be ruled out.