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学科主题: 临床医学
题名:
Evaluation of variant A45T in NEUROD1/BETA2 for its association with type 2 diabetes mellitus
作者: Han, Xueyao1; Xiao, Jianzhong2; Ren, Qian1; Tang, Yong1; Yang, Wenying2; Ji, Linong1
关键词: Diabetes mellitus ; Type 2 ; Single nucleotide polymorphism NEUROD1 gene
刊名: ENDOCRINE
发表日期: 2013-08-01
DOI: 10.1007/s12020-012-9844-3
卷: 44, 期:1, 页:99-106
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Endocrinology & Metabolism
研究领域[WOS]: Endocrinology & Metabolism
关键词[WOS]: LARGE-SCALE ASSOCIATION ; ALA45THR POLYMORPHISM ; NEUROD/BETA2 GENE ; COMMON VARIANTS ; PLASMA-GLUCOSE ; SUSCEPTIBILITY ; RISK ; BETA2/NEUROD1 ; MUTATIONS ; PAX4
英文摘要:

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.

语种: 英语
所属项目编号: 2011CB504001
项目资助者: China Medical Association ; National Basic Research Program of China (973 program)
WOS记录号: WOS:000322483500015
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55960
Appears in Collections:北京大学第二临床医学院_内分泌科_期刊论文

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作者单位: 1.China Japan Friendship Hosp, Beijing, Peoples R China
2.Peking Univ, Ctr Diabet, Peoples Hosp, Dept Endocrinol & Metab, Beijing 100044, Peoples R China

Recommended Citation:
Han, Xueyao,Xiao, Jianzhong,Ren, Qian,et al. Evaluation of variant A45T in NEUROD1/BETA2 for its association with type 2 diabetes mellitus[J]. ENDOCRINE,2013,44(1):99-106.
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