Sequence Variation in TMEM18 in Association With Body Mass Index Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study
Sequence Variation in TMEM18 in Association With Body Mass Index Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study
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DOI：
10.1161/circgenetics.13.000067
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发表时间：
2014-06-01
影响因子：
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通讯作者：
Cupples, L. Adrienne
中科院分区：
文献类型：
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作者：
Liu, Ching-Ti;Young, Kristin L.;Cupples, L. Adrienne
背景-我们对该区域进行了靶向测序，以研究常见、低频率和罕见变异对BMI的影响。方法和结果-我们对来自3个社区队列的3976名欧洲血统个体的2号染色体上的TMEM 18和TMEM 18下游区域进行了测序（社区动脉粥样硬化风险，心血管健康研究和心脏病研究），包括200名高BMI的成年人。我们研究了BMI和从核苷酸位置586 432到677 539（hg 18）的区域中确定的变体之间的关联。罕见变异（次要等位基因频率，
Background-Genome-wide association studies for body mass index (BMI) previously identified a locus near TMEM18. We conducted targeted sequencing of this region to investigate the role of common, low-frequency, and rare variants influencing BMI.Methods and Results-We sequenced TMEM18 and regions downstream of TMEM18 on chromosome 2 in 3976 individuals of European ancestry from 3 community-based cohorts (Atherosclerosis Risk in Communities, Cardiovascular Health Study, and Framingham Heart Study), including 200 adults selected for high BMI. We examined the association between BMI and variants identified in the region from nucleotide position 586 432 to 677 539 (hg18). Rare variants (minor allele frequency,