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在一项基于家系的研究中,与代谢综合征患者腰围和体重指数密切相关的染色体区域。

Chromosomal regions strongly associated with waist circumference and body mass index in metabolic syndrome in a family-based study.

机构信息

Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, PO Box, 19195-4763, Tehran, Iran.

Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Sci Rep. 2021 Mar 16;11(1):6082. doi: 10.1038/s41598-021-85741-1.

Abstract

Obesity is the most crucial phenotype in metabolic syndrome (MetS), and waist circumference (WC) and body mass index (BMI) are two common indexes to define obesity. It is an accepted fact that genetic and environmental interaction influence obesity and MetS. Microsatellites are a subcategory of tandem repeats with a length of 1 to 10 nucleotides. Tandem repeats make up repetitive genomic regions. Differences in the number of tandem repeats or their variation (alleles) result in microsatellite polymorphisms. Thus, we attempted to find microsatellite variation associated with WC and BMI in a family-based study. Twelve microsatellite markers were selected to investigate possible genes or chromosomal regions in 91 families with at least one affected MetS. The cut-off values for BMI and WC were considered 25 kg/m and 90 cm, respectively. In all members of the families, the strongest association was observed between the marker D11S1304 (allele 1) with both WC and BMI, independently, by the biallelic model in the family-based association test analysis (P < 0.05). Besides, when we compared high- and low-level groups in members with MetS, the markers D8S1743 and D11S1304 (allele 1) showed a strong association with WC (P = 0.0080) and BMI (P = 0.0074), respectively. When the simultaneous detection of the high WC and MetS status was used as a trait, the strongest association was observed with the marker D8S1743 (P = 0.0034). Moreover, when BMI with the high MetS status was used as a trait, the strongest association was observed with the marker D8S1743 (allele 4) (P = 0.0034). The obtained results showed a relationship between obesity and MetS with markers on the selected regions on chromosomes 8 and 11, and to a lesser degree, on chromosome 12.

摘要

肥胖是代谢综合征(MetS)中最关键的表型,腰围(WC)和体重指数(BMI)是定义肥胖的两个常用指标。遗传和环境相互作用影响肥胖和 MetS 是公认的事实。微卫星是长度为 1 到 10 个核苷酸的串联重复的一个亚类。串联重复构成重复基因组区域。串联重复的数量或其变化(等位基因)的差异导致微卫星多态性。因此,我们试图在基于家族的研究中找到与 WC 和 BMI 相关的微卫星变异。选择了 12 个微卫星标记物,以研究至少有一个受影响 MetS 的 91 个家族中可能的基因或染色体区域。BMI 和 WC 的截止值分别考虑为 25kg/m 和 90cm。在家族中的所有成员中,在基于家族的关联测试分析中,标记物 D11S1304(等位基因 1)与 WC 和 BMI 均表现出最强的关联,这两种关联均通过双等位基因模型(P < 0.05)。此外,当我们比较 MetS 患者中高低水平组时,标记物 D8S1743 和 D11S1304(等位基因 1)与 WC(P = 0.0080)和 BMI(P = 0.0074)分别表现出强烈的关联。当将高 WC 和 MetS 状态的同时检测作为特征时,与标记物 D8S1743 的关联最强(P = 0.0034)。此外,当 BMI 与高 MetS 状态一起作为特征时,与标记物 D8S1743(等位基因 4)的关联最强(P = 0.0034)。获得的结果表明,肥胖和 MetS 与染色体 8 和 11 上的选定区域上的标记物之间存在关系,在较小程度上,与染色体 12 上的标记物之间存在关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f06/7966400/59c482f81e9e/41598_2021_85741_Fig1_HTML.jpg

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