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蒙古族人群心率的遗传度与连锁研究。

Heritability and linkage study on heart rates in a Mongolian population.

作者信息

Gombojav Bayasgalan, Park Hansoo, Kim Jong Il, Ju Young Seok, Sung Joohon, Cho Sung Il, Lee Mi Kyeong, Ohrr Heechoul, Radnaabazar Janchiv, Seo Jeong Sun

机构信息

Department of Public Health, The Graduate School, Yonsei University, Seoul 120-752, Korea.

出版信息

Exp Mol Med. 2008 Oct 31;40(5):558-64. doi: 10.3858/emm.2008.40.5.558.

Abstract

Elevated heart rate has been proposed as an independent risk factor for cardiovascular diseases, but their interrelationships are not well understood. In this study, we performed a genome-wide linkage scan in 1,026 individuals (mean age 30.6 years, 54.5% women) from 73 extended families of Mongolia and determined quantitative trait loci that influence heart rate. The DNA samples were genotyped using deCODE 1,039 microsatellite markers for 3 cM density genome-wide linkage scan. Correlation analysis was carried out to evaluate the correlation of the covariates and the heart rate. T-tests of the heart rate were also performed on sex, smoking and alcohol intake. Consequently, this model was used in a nonparametric genome-wide linkage analysis using variance component model to create a multipoint logarithm of odds (LOD) score and a corresponding P value. In the adjusted model, the heritability of heart rate was estimated as 0.32 (P<.0001) and a maximum multipoint LOD score of 2.03 was observed in 77 cM region at chromosome 18. The second largest LOD score of 1.52 was seen on chromosome 5 at 216 cM. Genes located on the specified locations in chromosomes 5 and 18 may be involved in the regulation of heart rate.

摘要

心率升高已被认为是心血管疾病的一个独立危险因素,但其相互关系尚未完全明确。在本研究中,我们对来自73个蒙古族大家庭的1026名个体(平均年龄30.6岁,女性占54.5%)进行了全基因组连锁扫描,并确定了影响心率的数量性状位点。使用deCODE的1039个微卫星标记对DNA样本进行基因分型,以进行3 cM密度的全基因组连锁扫描。进行相关性分析以评估协变量与心率之间的相关性。还对性别、吸烟和饮酒情况进行了心率的t检验。因此,该模型被用于使用方差成分模型的非参数全基因组连锁分析,以创建多点对数优势(LOD)得分和相应的P值。在调整后的模型中,心率的遗传度估计为0.32(P<0.0001),在18号染色体的77 cM区域观察到最大多点LOD得分为2.03。在5号染色体的216 cM处观察到第二大LOD得分为1.52。位于5号和18号染色体特定位置的基因可能参与心率的调节。

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