复旦大学上海医学院内分泌系，瑞典Lund大学的研究人员在2型糖尿病的研究方面取得新的进展，相关成果文章公布在PLoS One上。
近期，复旦大学上海医学院的胡仁明教授与瑞典合作者使用GWAS技术在中国人群中鉴定2型糖尿病的遗传标记，据估计，20年后，中国糖尿病患者将翻倍。
胡仁明研究组对1165个患有2型糖尿病的患者和1136个正常人进行GWAS分析，结果发现，患有2型糖尿病的患者普遍地在CDKN2A/B，CDKAL1和TCF7L2基因上发生变异。
近期，欧洲科学家对2型糖尿病的研究列出一系列变异基因，其中CDKN2A/B，CDKAL1和TCF7L2基因在该基因列表上。
欧洲的研究与中国的研究同时发现了CDKN2A/B，CDKAL1和TCF7L2基因，这表明，这些基因可能是普遍的2型糖尿病相关变异基因。这些发现，对人们了解2型糖尿病和帮助2型糖尿病的防治具有重要的意义。（生物谷Bioon.com）
生物谷推荐原文出处：
PLoS One. 2010 Feb 10;5(2):e9153.PMID: 20161779
Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
Wen J, R?nn T, Olsson A, Yang Z, Lu B, Du Y, Groop L, Ling C, Hu R.
BACKGROUND: Recent genome-wide association studies (GWASs) have reported several genetic variants to be reproducibly associated with type 2 diabetes. Additional variants have also been detected from a metaanalysis of three GWASs, performed in populations of European ancestry. In the present study, we evaluated the influence of 17 genetic variants from 15 candidate loci, identified in type 2 diabetes GWASs and the metaanalysis, in a Han Chinese cohort. METHODOLOGY/PRINCIPAL FINDINGS: Selected type 2 diabetes-associated genetic variants were genotyped in 1,165 type 2 diabetic patients and 1,136 normoglycemic control individuals of Southern Han Chinese ancestry. The OR for risk of developing type 2 diabetes was calculated using a logistic regression model adjusted for age, sex, and BMI. Genotype-phenotype associations were tested using a multivariate linear regression model. Genetic variants in CDKN2A/B, CDKAL1, TCF7L2, TCF2, MC4R, and PPARG showed a nominal association with type 2 diabetes (P<or=0.05), of whom the three first would stand correction for multiple testing: CDKN2A/B rs10811661, OR: 1.26 (1.12-1.43) P = 1.8*10(-4); CDKAL1 rs10946398, OR: 1.23 (1.09-1.39); P = 7.1*10(-4), and TCF7L2 rs7903146, OR: 1.61 (1.19-2.18) P = 2.3 * 10(-3). Only nominal phenotype associations were observed, notably for rs8050136 in FTO and fasting plasma glucose (P = 0.002), postprandial plasma glucose (P = 0.002), and fasting C-peptide levels (P = 0.006) in the diabetic patients, and with BMI in controls (P = 0.033). CONCLUSIONS/SIGNIFICANCE: We have identified significant association between variants in CDKN2A/B, CDKAL1 and TCF7L2, and type 2 diabetes in a Han Chinese cohort, indicating these genes as strong candidates conferring susceptibility to type 2 diabetes across different ethnicities.
