PMID- 23203005 OWN - NLM STAT- MEDLINE DCOM- 20140331 LR - 20221207 IS - 1559-0100 (Electronic) IS - 1355-008X (Linking) VI - 44 IP - 1 DP - 2013 Aug TI - Evaluation of variant A45T in NEUROD1/BETA2 for its association with type 2 diabetes mellitus. PG - 99-106 LID - 10.1007/s12020-012-9844-3 [doi] AB - Heterozygous loss-of-function mutations in NEUROD1 have been identified as a very rare cause of maturity-onset diabetes of the young and neonatal diabetes. Previous studies showed that a common A45T variant located in NEUROD1 was inconsistently associated with type 2 diabetes mellitus (T2DM) in different ethnic populations. This study aimed to evaluate the contribution of variant A45T in the genetic pathogenesis of T2DM. A case-control study in a Chinese Han population was conducted, which included 3,554 (1,155 males/2,399 females) patients with T2DM and 4,181 (1,798 males/2,383 females) control subjects from 13 different regions of China. The A45T variant was genotyped by the Illumina GoldenGate platform. A meta-analysis was used to estimate the effects of variant A45T in populations from different ethnic backgrounds. No association in Chinese Han subjects was confirmed in our case control study. A relationship between variant A45T and postprandial glucose was observed in the control group (beta = 0.05, p = 0.002). Meta-analyses did not find an association of this polymorphism with T2DM in Chinese, Japanese, and East Asian descent, but did for European descent Caucasians (odds ratio = 1.15, 95 %CI 1.03-1.28, p = 0.01). Our study suggests the variant A45T does not play a major role in the development of T2DM in East Asian descent, and the role in European descent Caucasian needs to be confirmed. FAU - Han, Xueyao AU - Han X AD - Department of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, 100044, China. FAU - Xiao, Jianzhong AU - Xiao J FAU - Ren, Qian AU - Ren Q FAU - Tang, Yong AU - Tang Y FAU - Yang, Wenying AU - Yang W FAU - Ji, Linong AU - Ji L LA - eng PT - Journal Article PT - Meta-Analysis PT - Research Support, Non-U.S. Gov't DEP - 20121201 PL - United States TA - Endocrine JT - Endocrine JID - 9434444 RN - 0 (Basic Helix-Loop-Helix Transcription Factors) RN - 0 (NEUROD1 protein, human) SB - IM MH - Adult MH - Aged MH - Asian People/genetics MH - Basic Helix-Loop-Helix Transcription Factors/*genetics MH - Case-Control Studies MH - China/epidemiology MH - Diabetes Mellitus, Type 2/epidemiology/*genetics MH - Female MH - Genetic Association Studies MH - Genetic Predisposition to Disease MH - Genotype MH - Humans MH - Male MH - Middle Aged MH - *Polymorphism, Single Nucleotide/physiology MH - White People/genetics EDAT- 2012/12/04 06:00 MHDA- 2014/04/01 06:00 CRDT- 2012/12/04 06:00 PHST- 2012/09/02 00:00 [received] PHST- 2012/11/19 00:00 [accepted] PHST- 2012/12/04 06:00 [entrez] PHST- 2012/12/04 06:00 [pubmed] PHST- 2014/04/01 06:00 [medline] AID - 10.1007/s12020-012-9844-3 [doi] PST - ppublish SO - Endocrine. 2013 Aug;44(1):99-106. doi: 10.1007/s12020-012-9844-3. Epub 2012 Dec 1.