PMID- 32355734 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20220830 IS - 2305-5839 (Print) IS - 2305-5847 (Electronic) IS - 2305-5839 (Linking) VI - 8 IP - 6 DP - 2020 Mar TI - NUCB2 polymorphisms are associated with an increased risk for type 2 diabetes in the Chinese population. PG - 290 LID - 10.21037/atm.2020.03.02 [doi] LID - 290 AB - BACKGROUND: The nucleobindin 2 (NUCB2) gene encodes the NUCB2 protein, which plays a critical role in glucose metabolism and diabetes. This study explored the correlation between NUCB2 genetic variants and type 2 diabetes mellitus (T2DM). The study further examined the different NUCB2 variants that confer risk to T2DM in Chinese Han populations. METHODS: This study evaluated the anthropometric and glycemic profiles of 578 T2DM patients and 1,609 healthy controls. Subsequently, we genotyped five single nucleotide polymorphisms (SNPs) (rs10832756, rs1330, rs10766383, rs10832757, and rs11024251) in all the study participants using a Sequenom Mass ARRAY SNP genotyping platform. RESULTS: The distribution of polymorphisms was significantly different between the T2DM patients and healthy controls. Our logistic regression analysis results showed that the five NUCB2 SNPs are significantly correlated with the risk for T2DM, especially rs11024251(P=2.97x10(-6)). Interestingly, analysis of male and female sub-populations separately showed that only two of the SNPs (rs10832757 and rs11024251) have significant correlation to T2DM in males [P=0.0244, odds ratio (OR) 1.28 and P=0.0062, OR 1.35, respectively). In females however, we identified four significant SNPs (rs1330, rs10766383, rs10832757, and rs11024251; P<0.05, OR 1.31-1.42). Furthermore, we found that rs1330 is associated with body mass index of female subpopulation only (P=0.0174, beta =0.0060). CONCLUSIONS: NUCB2 polymorphisms could have a pivotal role in the presence of T2DM. Sex-specific SNPs of NUCB2 could account for the differences in clinical features of T2DM between male and female subpopulations. Nevertheless, our results should be replicated using larger sample sizes, and experimental investigations are needed to elucidate the molecular mechanisms of the associations observed in this study. CI - 2020 Annals of Translational Medicine. All rights reserved. FAU - Li, Xue-Song AU - Li XS AD - Department of Endocrinology and Metabolism, Minhang Hospital, Fudan University, Shanghai 201199, China. FAU - Yan, Chen-Yan AU - Yan CY AD - Department of Molecular Diagnostics, The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University (SJTU) School of Medicine, Shanghai 200011, China. FAU - Fan, Yu-Juan AU - Fan YJ AD - Department of Endocrinology and Metabolism, Minhang Hospital, Fudan University, Shanghai 201199, China. FAU - Yang, Jia-Lin AU - Yang JL AD - Department of Endocrinology and Metabolism, Minhang Hospital, Fudan University, Shanghai 201199, China. FAU - Zhao, Shuang-Xia AU - Zhao SX AD - Department of Molecular Diagnostics, The Core Laboratory in Medical Center of Clinical Research, Department of Endocrinology, Shanghai Ninth People's Hospital, State Key Laboratory of Medical Genomics, Shanghai Jiao Tong University (SJTU) School of Medicine, Shanghai 200011, China. LA - eng PT - Journal Article PL - China TA - Ann Transl Med JT - Annals of translational medicine JID - 101617978 PMC - PMC7186676 OTO - NOTNLM OT - Type 2 diabetes mellitus (T2DM) OT - nesfatin-1 OT - nucleobindin 2 (NUCB2) OT - single nucleotide polymorphisms (SNPs) COIS- Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form and declare: The authors have no conflicts of interest to declare. EDAT- 2020/05/02 06:00 MHDA- 2020/05/02 06:01 PMCR- 2020/03/01 CRDT- 2020/05/02 06:00 PHST- 2020/05/02 06:00 [entrez] PHST- 2020/05/02 06:00 [pubmed] PHST- 2020/05/02 06:01 [medline] PHST- 2020/03/01 00:00 [pmc-release] AID - atm-08-06-290 [pii] AID - 10.21037/atm.2020.03.02 [doi] PST - ppublish SO - Ann Transl Med. 2020 Mar;8(6):290. doi: 10.21037/atm.2020.03.02.