PPYR1基因的拷贝数变异对于中国汉族人肥胖症的影响.doc

文档介绍：
PPYR1 基因的拷贝数变异对于中国汉族人
肥胖症的影响
王玲,杨铁林**
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(西安交通大学生命学院生物信息学教育部重点实验室,西安 710049)
摘要:肥胖症是一个高遗传性疾病。拷贝数变异(Copy number variations, CNVs)已被证实和
许多遗传疾病相关。V 位点与肥胖症相关。有研究使用全基因组关
联分析(Genome-wide association studies, GWASs)发现 PPYR1 V 与肥胖症有关,
但是结果却不尽相同。因此,本研究目的在于在 1627 个中国汉族人中验证 PPYR1 基因的
CNV 与肥胖症的两个表型之间的关系。研究结果表明 PPYR1 V 与肥胖表型 BMI
存在显著性正相关( P=),但是与肥胖表型全身脂肪含量虽然相关但是不显著
(P=)。本研究表明 PPYR1 基因可能对更好的探索肥胖症的发病机制有重要的作用,
CNV 可以作为中进行遗传分析。
关键词:V;PPYR1 基因;BMI;肥胖
中图分类号:Q39
Copy number variations of PPYR1 gene association with
obesity in Chinese populations
WANG Ling, YANG Tielin
(Laboratory of Biomedical Information Engineering of Ministry of Education,School of Life
Science and Technology,Xi'an Jiaotong University,Xi'an 710049)
Abstract: Obesity is a global and highly heritable health problem. Copy number variations (CNVs)
have been related to many genomic disorders mon diseases. Recently studies have
showed that V regions play important roles in understanding of obesity. Genome-wide
association studies (GWASs) have found V of pancreatic polypeptide receptor 1 (PPYR1)
gene associated with obesity. However, those recent studies showed different results. Thus, we
performed study to validate the association V_PPYR1 and two obesity phenotypes:
BMI and whole body fat, in a large sample of 1,627 unrelated Chinese Han adults. Our results