Association of rs10830962 polymorphism with gestational diabetes mellitus risk in a Chinese population

Kaipeng Xie,Xianwei Cui,Lianghui You,Lijun Zhu,Juan Wen,Bo Xu,Chenbo Ji,Ting Chen,Xirong Guo,Yue Zhang

doi:10.1038/s41598-019-41605-3

Abstract

To date, only three polymorphisms (rs10830962, rs7754840 and rs1470579) are included in the genome-wide association study Catalog (www.ebi.ac.uk/gwas). However, the available evidence is limited in pregnant Chinese women. We aimed to explore the associations of three polymorphisms (rs10830962, rs7754840 and rs1470579) with GDM risk in a Chinese population. We conducted a case-control study (964 GDM cases and 1,021 controls) to evaluate the associations of these polymorphisms with GDM risk. A logistic regression model was used to calculate odds ratios (ORs) and their confidence intervals (CIs). After adjustment for age, prepregnancy BMI, parity, abnormal pregnancy history and family history of diabetes, the minor allele of rs10830962 (C > G) demonstrated a significant association with an increased risk of GDM (OR = 1.16, 95% CI = 1.02–1.31, P = 0.029 in the additive model). However, no significant association was observed between the other two polymorphisms and GDM. Subsequent functional annotation shows that rs10830962 is located in the regulatory elements of pancreatic islets, alters the binding affinity of motifs and regulates SNORA8 expression. Our findings demonstrate that rs10830962 is associated with an increased risk of GDM in the Chinese population. Further functional characterization is warranted to uncover the mechanism of the genotype-phenotype association.

Highlights

Gestational diabetes mellitus (GDM) is defined as a glucose intolerance disorder with first onset or recognition in pregnancy that affects an estimated 14% of pregnancies globally[1]
We examined the associations of 3 single nucleotide polymorphisms (SNPs) with the risk of GDM in a Chinese population
These findings indicate that the polymorphism may participate in the pathogenesis of GDM

Summary

Introduction

Gestational diabetes mellitus (GDM) is defined as a glucose intolerance disorder with first onset or recognition in pregnancy that affects an estimated 14% of pregnancies globally[1]. Only these three GDM-associated loci are in the GWAS Catalog (www.ebi.ac.uk/gwas), which is a publicly available and manually curated resource of all published GWASs and association results[11]. Based on a case-control study that included 350 GDM patients and 480 control subjects, Li et al concluded that rs10830962 was not associated with the development of GDM in a Chinese population[17]. Given the different genetic backgrounds and the inadequate evidence about the effect of these three polymorphisms on GDM risk, we conducted a case-control study to determine whether these polymorphisms contribute to GDM risk in a Chinese population

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Conclusion