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全基因组关联研究在健康受试者中发现了一个与中心性肥胖相关的新位点。

Epigenome-wide association study detects a novel loci associated with central obesity in healthy subjects.

机构信息

INSERM UMR U1122, IGE-PCV, Faculté de Pharmacie, Université de Lorraine, 30 Rue Lionnois, 54000, Nancy, France.

CRCT, INSERM U1037, 31037, Toulouse, France.

出版信息

BMC Med Genomics. 2021 Sep 23;14(1):233. doi: 10.1186/s12920-021-01077-9.

DOI:10.1186/s12920-021-01077-9
PMID:34556110
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8459469/
Abstract

BACKGROUND AND AIMS

Central obesity is a condition that poses a significant risk to global health and requires the employment of novel scientific methods for exploration. The objective of this study is to use DNA methylation analysis to detect DNA methylation loci linked to obesity phenotypes, i.e. waist circumference and waist-to-hip ratio adjusted for BMI.

METHODS AND RESULTS

Two-hundred and ten healthy European participants from the STANISLAS Family Study (SFS), comprising 73 nuclear families, were comprehensively assessed for methylation status using Illumina Infinium HumanMethylation450 BeadChip. An epigenome-wide association study was performed, which identified a CpG site cg16170243 located on chromosome 18q21.2 significantly associated with waist circumference, after adjusting for BMI (β = 2.32, SE = 0.41, P = 0.048). Cg16170243 corresponds to a 50 bp-length human methylation oligoprobe located within the AC090241.2 gene that overlaps ST8SIA5 gene. No significant association was observed with waist-to-hip ratio adjusted for BMI (P > 0.05).

CONCLUSIONS

A novel association between DNA methylation and WC was identified, which is demonstrating that epigenetic mechanisms may have a significant impact on waist circumference ratio in healthy individuals. Further studies are warranted to address the causal effects of this association.

摘要

背景与目的

中心性肥胖对全球健康构成重大威胁,需要采用新的科学方法进行探索。本研究旨在利用 DNA 甲基化分析检测与肥胖表型(即经 BMI 调整后的腰围和腰臀比)相关的 DNA 甲基化位点。

方法与结果

本研究纳入了来自 STANISLAS 家族研究(SFS)的 210 名健康的欧洲参与者,包括 73 个核心家庭,采用 Illumina Infinium HumanMethylation450 BeadChip 对其进行甲基化状态全面评估。进行了全基因组关联研究,结果发现,在调整 BMI 后,位于 18q21.2 染色体上的 CpG 位点 cg16170243 与腰围显著相关(β=2.32,SE=0.41,P=0.048)。cg16170243 对应一个 50bp 长的人类甲基化寡核苷酸探针,位于 AC090241.2 基因内,与 ST8SIA5 基因重叠。但在调整 BMI 后,与腰臀比无显著相关性(P>0.05)。

结论

本研究发现了 DNA 甲基化与 WC 之间的新关联,表明表观遗传机制可能对健康个体的腰围比有重要影响。需要进一步研究以确定该关联的因果效应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/e5c96eae41ef/12920_2021_1077_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/29eb0d23cae0/12920_2021_1077_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/b821e9318b48/12920_2021_1077_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/791cbdd209c6/12920_2021_1077_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/56b607088e21/12920_2021_1077_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/e5c96eae41ef/12920_2021_1077_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/29eb0d23cae0/12920_2021_1077_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/b821e9318b48/12920_2021_1077_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/791cbdd209c6/12920_2021_1077_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/56b607088e21/12920_2021_1077_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/eb78/8459469/e5c96eae41ef/12920_2021_1077_Fig5_HTML.jpg

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