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对中国双胞胎脉搏压的全基因组连锁和关联扫描。

Genome-wide linkage and association scans for pulse pressure in Chinese twins.

机构信息

Department of Public Health, Qingdao University Medical College, Qingdao, China.

出版信息

Hypertens Res. 2012 Nov;35(11):1051-7. doi: 10.1038/hr.2012.90. Epub 2012 Jul 5.

Abstract

Elevated pulse pressure (PP) is associated with cardiovascular disorders and mortality in various populations. The genetic influence on PP has been confirmed by heritability estimates using related individuals. Recently, efforts have been made by mapping genes that are linked to the phenotype. We report the results of our gene mapping studies conducted in the Chinese population in mainland China. The genome-wide linkage and association scans were carried out on 63 middle-aged dizygotic twin pairs using high-density markers. The linkage analysis identified three significant linkage peaks (all with a single point P<1e(-05)) on chromosome 11 (LOD core 4.06 at 30.5 cM), chromosome 12 (LOD score 3.97 at 100.7 cM) and chromosome 18 (LOD score 4.01 at 70.7 cM), with the last two peaks closely overlapping with linkage peaks reported by two American studies. Multiple regions with suggestive linkages were identified, with many of the peaks overlapping with published linkage regions. The genome-wide association analysis detected a suggestive association on chromosome 4 (rs17031508, P<8.34e(-08)) located within a wide region of suggestive linkage. Our results provide some evidence for genetic linkages and associations with PP in the Chinese population. Further investigation is warranted to replicate the findings and to explore the susceptibility loci or genes for PP.

摘要

脉压升高(PP)与各种人群的心血管疾病和死亡率有关。通过使用相关个体的遗传力估计,已经证实了 PP 的遗传影响。最近,人们已经通过绘制与表型相关的基因图谱来努力寻找这些基因。我们报告了在中国大陆的汉族人群中进行的基因图谱研究结果。使用高密度标记物,对 63 对中年双生子进行了全基因组连锁和关联扫描。连锁分析在第 11 号染色体(LOD 核心 4.06,在 30.5cM 处)、第 12 号染色体(LOD 得分 3.97,在 100.7cM 处)和第 18 号染色体(LOD 得分 4.01,在 70.7cM 处)上确定了三个显著的连锁峰(均为单点 P<1e(-05)),后两个峰与两个美国研究报告的连锁峰紧密重叠。鉴定出多个具有暗示性关联的区域,许多峰与已发表的连锁区域重叠。全基因组关联分析在染色体 4 上检测到一个具有暗示性关联的区域(rs17031508,P<8.34e(-08)),该区域位于具有暗示性连锁的广泛区域内。我们的结果为中国人群中 PP 的遗传连锁和关联提供了一些证据。需要进一步的研究来复制这些发现,并探索 PP 的易感基因或基因。

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