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美洲印第安人显示出 PPAR-γ2 基因 Ala12 等位基因与肥胖之间没有关联:一个“不节俭”的变异人群遗传学。

Amerindians show no association of PPAR-γ2 gene Ala12 allele and obesity: an "unthrifty" variant population genetics.

机构信息

Departamento de Inmunología, Facultad de Medicina, The Madrid Regional Blood Center, University Complutense, Pabellón 5, Planta 4. Avda. Complutense s/n, 28040, Madrid, Spain.

出版信息

Mol Biol Rep. 2013 Feb;40(2):1767-74. doi: 10.1007/s11033-012-2230-7. Epub 2012 Oct 25.

DOI:10.1007/s11033-012-2230-7
PMID:23096090
Abstract

Obesity is for many scholars the most important starting status that gives rise to Metabolic Syndrome (MS) and Type 2 Diabetes (T2D). In the present paper, a genetically homogeneous Amerindian population, as defined by HLA genes, has been genotyped for one of the MS and T2D predisposing genes: PPAR-γ Ala12 and Pro 12 variants. Ala12 has been negatively associated with obesity, but other authors do not find such an association. Notwithstanding, a meta-analysis that used many subjects clearly demonstrated that PPAR-γ Ala12 bearing ones had a reduced risk for T2D. Our results show that Amerindians do not have association of PPAR-γ2 Ala12 and obesity; the latter was measured by waist circumference values after taken specific Amerindian normal waist parameters. Also, a population genetics study indicates that Pro12 allele was the wild allele, which must have occurred before modern humans left Africa. Ala12 may have appeared in Caucasoids later on, according to our comparisons. Negroids tend to show low or null Ala 12 allele frequencies, while most other populations have a significant frequency, particularly European Caucasoids. This may suggest that appearance of Ala12 allele occurred after populations adapted to an agricultural feeding.

摘要

肥胖症是许多学者认为的引发代谢综合征(MS)和 2 型糖尿病(T2D)的最重要起始状态。在本文中,我们对一种具有遗传同质性的美洲印第安人群体进行了基因分型,该人群由 HLA 基因定义,用于研究 MS 和 T2D 易患基因之一:过氧化物酶体增殖物激活受体-γ(PPAR-γ)Ala12 和 Pro12 变异体。Ala12 与肥胖呈负相关,但其他作者并未发现这种关联。然而,一项使用大量受试者的荟萃分析清楚地表明,携带 PPAR-γ Ala12 的人患 T2D 的风险降低。我们的研究结果表明,美洲印第安人没有 PPAR-γ2 Ala12 与肥胖之间的关联;后者是通过采用特定的美洲印第安人正常腰围参数测量的腰围值来确定的。此外,一项群体遗传学研究表明,Pro12 等位基因是野生等位基因,它一定是在现代人类离开非洲之前就已经存在了。根据我们的比较,Ala12 可能是后来在白种人中出现的。黑种人往往显示出较低或零的 Ala12 等位基因频率,而其他大多数人群,尤其是欧洲白种人,具有显著的频率。这可能表明 Ala12 等位基因的出现是在人群适应农业喂养之后发生的。

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Front Endocrinol (Lausanne). 2022 Jun 29;13:919087. doi: 10.3389/fendo.2022.919087. eCollection 2022.
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本文引用的文献

1
Amerindians show no association of PC-1 gene Gln121 allele and obesity: a thrifty gene population genetics.美洲印第安人没有表现出 PC-1 基因 Gln121 等位基因与肥胖的关联:节俭基因的群体遗传学。
Mol Biol Rep. 2012 Jul;39(7):7687-93. doi: 10.1007/s11033-012-1604-1. Epub 2012 Feb 12.
2
Amerindians normalized waist circumference and obesity diagnosis standarized by biochemical and HLA data.美洲印第安人采用生化和 HLA 数据标准化的腰围和肥胖症诊断标准。
Mol Biol Rep. 2012 Apr;39(4):4875-8. doi: 10.1007/s11033-011-1282-4. Epub 2011 Nov 12.
3
The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population.
The Pro12Ala polymorphism in the PPAR-γ2 gene is not associated to obesity and type 2 diabetes mellitus in a Cameroonian population.PPAR-γ2基因中的Pro12Ala多态性与喀麦隆人群的肥胖症和2型糖尿病无关。
BMC Obes. 2016 May 12;3:26. doi: 10.1186/s40608-016-0104-6. eCollection 2016.
4
Association of the variants in the PPARG gene and serum lipid levels: a meta-analysis of 74 studies.PPARG基因变异与血清脂质水平的关联:74项研究的荟萃分析
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该 ENPP1 K121Q 多态性与中国汉族人群的 2 型糖尿病或肥胖无关。
J Hum Genet. 2011 Jan;56(1):12-6. doi: 10.1038/jhg.2010.124. Epub 2010 Oct 28.
4
HLA genes in Amerindian immigrants to Madrid (Spain): epidemiology and a virtual transplantation waiting list: Amerindians in Madrid (Spain).马德里(西班牙)的美洲印第安移民中的 HLA 基因:流行病学和虚拟移植等候名单:马德里(西班牙)的美洲印第安人。
Mol Biol Rep. 2011 Apr;38(4):2263-71. doi: 10.1007/s11033-010-0357-y. Epub 2010 Oct 8.
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The Origin of Amerindians and the Peopling of the Americas According to HLA Genes: Admixture with Asian and Pacific People.根据 HLA 基因探讨美洲印第安人的起源和美洲人群的形成:与亚洲和太平洋人群的混合。
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Diab Vasc Dis Res. 2010 Jan;7(1):56-62. doi: 10.1177/1479164109347689. Epub 2009 Oct 13.
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Am J Epidemiol. 2010 Mar 15;171(6):645-55. doi: 10.1093/aje/kwp450. Epub 2010 Feb 23.
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Gender-specific effect of Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma-2 gene on obesity risk and leptin levels in a Tunisian population.过氧化物酶体增殖物激活受体γ-2基因Pro12Ala多态性对突尼斯人群肥胖风险和瘦素水平的性别特异性影响。
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Analysis of two sequence variants in peroxisome proliferator activated receptor gamma gene in Tajik population at high altitudes and Han population at low altitudes in China.中国高海拔塔吉克族人群和低海拔汉族人群过氧化物酶体增殖物激活受体γ基因两个序列变异的分析
Mol Biol Rep. 2010 Jan;37(1):179-84. doi: 10.1007/s11033-009-9581-8. Epub 2009 Jun 23.