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脑源性神经营养因子(BDNF)、Fas凋亡抑制分子2(FAIM2)、脂肪量和肥胖相关基因(FTO)、促黑素细胞激素4受体(MC4R)、神经生长调控蛋白1(NEGR1)和含SH2结构域的接头蛋白1(SH2B1)中的常见变异体与西班牙罗姆人群中与肥胖相关的变量存在关联。

Common variants in BDNF, FAIM2, FTO, MC4R, NEGR1, and SH2B1 show association with obesity-related variables in Spanish Roma population.

作者信息

Poveda Alaitz, Ibáñez María Eugenia, Rebato Esther

机构信息

Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country (UPV/EHU), 48080, Bilbao, Spain.

出版信息

Am J Hum Biol. 2014 Sep-Oct;26(5):660-9. doi: 10.1002/ajhb.22576. Epub 2014 Jun 20.

Abstract

OBJECTIVES

The objective of this study is to investigate the association between previously GWAS identified genetic variants predisposing to obesity in Europeans and obesity-related phenotypes in Roma population.

METHODS

A total of 24 representative single nucleotide polymorphisms (SNPs) were genotyped in 372 individuals belonging to 50 extended families of Roma population. SNPs were tested for association with seven quantitative obesity-related phenotypes in the PLINK program.

RESULTS

Risk variants in NEGR1, FAIM2, FTO, and SH2B1 genes were associated with increased adiposity accumulation in Roma population with effect sizes between 0.21 and 0.34 Z-scores for each copy of the BMI increasing allele. Additionally, variants in BDNF and MC4R were significantly associated with adiposity distribution but not with overall fatness. No significant association was detected between obesity-related phenotypes and variants in the first intron of the FTO gene (e.g., rs9939609).

CONCLUSIONS

The results of this study suggest that SNPs in or near six genes (BDNF, FAIM2, FTO, MC4R, NEGR1, and SH2B1) are significantly associated with body fat accumulation and distribution in Roma people. However, the association observed among variants in the first intron of FTO and obesity in European derived populations is not evident in the analyzed Roma sample.

摘要

目的

本研究的目的是调查欧洲人先前通过全基因组关联研究(GWAS)确定的肥胖易感基因变异与罗姆人群肥胖相关表型之间的关联。

方法

在属于50个罗姆人大家庭的372名个体中,对总共24个具有代表性的单核苷酸多态性(SNP)进行基因分型。在PLINK程序中测试SNP与七种与肥胖相关的定量表型的关联。

结果

NEGR1、FAIM2、FTO和SH2B1基因中的风险变异与罗姆人群中肥胖积累增加相关,对于每个BMI增加等位基因拷贝,效应大小在0.21至0.34个Z分数之间。此外,BDNF和MC4R中的变异与肥胖分布显著相关,但与总体肥胖无关。在肥胖相关表型与FTO基因第一内含子中的变异(例如rs9939609)之间未检测到显著关联。

结论

本研究结果表明,六个基因(BDNF、FAIM2、FTO、MC4R、NEGR1和SH2B1)内部或附近的SNP与罗姆人的体脂积累和分布显著相关。然而,在分析的罗姆人样本中,未发现FTO第一内含子中的变异与欧洲人群肥胖之间存在明显关联。

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