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一项针对中国女性妊娠期糖尿病的全基因组关联研究。

A genome-wide association study of gestational diabetes mellitus in Chinese women.

机构信息

Department of Endocrinology and Metabolism, the 2nd Hospital Affiliated of Harbin Medical University, Harbin, China.

Department of Endocrinology, Lu He hospital, Capital Medical University, Beijing, China.

出版信息

J Matern Fetal Neonatal Med. 2021 May;34(10):1557-1564. doi: 10.1080/14767058.2019.1640205. Epub 2019 Jul 15.

Abstract

BACKGROUND

Recently, gestational diabetes mellitus (GDM) exhibits an obvious trend of increase in pregnant mothers and usually causes several abnormities or diseases for the offspring. Although several studies have been reported for potential molecular mechanisms, relevant genes or mutated sites have not been intensively investigated in China.

MATERIALS AND METHODS

In the present study, 218 pregnant mothers (GDM group: 103 individuals and control group: 115 individuals) in China were enrolled to conduct genome-wide association study (GWAS) and pathway analyses for the purpose of related genes associated with GDM in China.

RESULTS

Our results identified 23 SNPs exhibiting closely association with GDM using multiple tests. Annotation of these 23 SNPs identified four genes (, , , and ), which suggests that the four genes may associate with GDM. GO enrichment and KEGG pathway analysis showed that gene , , and were enriched or located into the pathways or process associated with glycometabolism (e.g. insulin resistance and glucose tolerance), which further indicates that the three genes may associate with the GDM.

CONCLUSION

The identification of these potential genes associating with GDM enriched the potential molecular mechanisms of GDM in Asia and will provide abundant stocks for subsequent clinical verifications for better understanding the molecular mechanisms, diagnosis, drug development and clinical treatment of GDM.

摘要

背景

近年来,妊娠糖尿病(GDM)在孕妇中呈现明显增加的趋势,通常会导致后代出现几种异常或疾病。尽管已经有几项研究报道了潜在的分子机制,但相关基因或突变位点在中国尚未得到深入研究。

材料与方法

本研究在中国招募了 218 名孕妇(GDM 组:103 人,对照组:115 人)进行全基因组关联研究(GWAS)和通路分析,以确定与中国 GDM 相关的相关基因。

结果

我们的研究结果通过多重检验确定了与 GDM 密切相关的 23 个 SNP。对这 23 个 SNP 的注释确定了四个基因(、、、和),提示这四个基因可能与 GDM 相关。GO 富集和 KEGG 通路分析表明,基因、和 富集或位于与糖代谢(如胰岛素抵抗和葡萄糖耐量)相关的途径或过程中,进一步表明这三个基因可能与 GDM 相关。

结论

这些与 GDM 相关的潜在基因的鉴定丰富了亚洲 GDM 的潜在分子机制,并将为随后的临床验证提供丰富的资源,以更好地理解 GDM 的分子机制、诊断、药物开发和临床治疗。

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