Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population.

Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population.
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全基因组关联研究表明拷贝数变异可能与中国人群的体重指数有关

DOI:
10.1038/jhg.2009.10
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发表时间:
2009-04
影响因子:
3.5
通讯作者:
--
中科院分区:
生物学3区
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--
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肥胖是一个主要的公共卫生问题,其特征是高体重指数(BMI)。拷贝数变异(CNVs)已被确定与复杂的人类疾病。CNV对肥胖的影响尚不清楚。本研究采用Affyssin基因芯片人类定位500 K芯片集,对597名中国汉族人群CNVs与BMI的关系进行了研究。我们发现10 q11有一个CNV。22(从46.36 Mb到46.56 Mb)与BMI相关(原始P= 0.011)。CNV对BMI变异的贡献率为1.6%,它涵盖了一个重要的肥胖基因-胰多肽受体1(PPYR 1)。据报道,PPYR 1是能量稳态的关键调节因子。我们的研究结果表明,CNV可能是潜在的重要的BMI的变化。此外,我们的研究表明,CNV可能作为一个遗传标记,定位与中国人的BMI相关的基因。
Obesity is a major public health problem characterized with high body mass index (BMI). Copy number variations (CNVs) have been identified to be associated with complex human diseases. The effect of CNVs on obesity is unknown. In this study, we explored the association of CNVs with BMI in 597 Chinese Han subjects using Affymetrix GeneChip Human Mapping 500K Array Set. We found that one CNV at 10q11. 22 (from 46.36 Mb to 46.56 Mb) was associated with BMI (the raw P= 0.011). The CNV contributed 1.6% of BMI variation, and it covered one important obesity gene—pancreatic polypeptide receptor 1 (PPYR1). It was reported that PPYR1 was a key regulator of energy homeostasis. Our findings suggested that CNV might be potentially important for the BMI variation. In addition, our study suggested that CNV might be used as a genetic marker to locate genes associated with BMI in Chinese population.
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