日本国立国际医疗中心和理化学研究所为中心的两个科研小组8月17日同时在《自然—遗传学》(Nature Genetics)网络版上发表了各自的研究成果。这两个小组以日本人为对象分别进行研究,查明了与易患Ⅱ型糖尿病密切相关的遗传基因。Ⅱ型糖尿病也叫成人发病型糖尿病,约占糖尿病患者的95%。
据日本共同社报道,被查明的遗传基因名为“KCNQ1”。迄今为止人们已了解到“KCNQ1”对心脏肌肉的活动非常重要。此次研究表明,“KCNQ1”的碱基排列稍有差错,Ⅱ型糖尿病的发病危险性便会提高1.3~1.4倍。
此前以欧美人为对象的相关研究发现了多种与Ⅱ型糖尿病相关的遗传基因,但以亚洲人为对象确定相关基因尚属首次。人们希望该发现能有助于进行预防Ⅱ型糖尿病的体质诊断以及研制出新的治疗方法。
两个小组以中国人、韩国人、新加坡人、芬兰人及丹麦人为对象,对不同对象分别进行了几千人规模的调查。调查结果显示,对所有人种而言,“KCNQ1”基因与易患Ⅱ型糖尿病均密切相关。(生物谷Bioon.com)
生物谷推荐原始出处:
Nature Genetics,doi:10.1038/ng.208,Hiroyuki Unoki,Shiro Maeda
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
Hiroyuki Unoki1, Atsushi Takahashi2, Takahisa Kawaguchi3, Kazuo Hara4, Momoko Horikoshi4, Gitte Andersen5, Daniel P K Ng6, Johan Holmkvist5, Knut Borch-Johnsen5,7,8, Torben Jørgensen7, Annelli Sandbæk9, Torsten Lauritzen9, Torben Hansen5, Siti Nurbaya6, Tatsuhiko Tsunoda3, Michiaki Kubo10, Tetsuya Babazono11, Hiroshi Hirose12, Matsuhiko Hayashi13, Yasuhiko Iwamoto11, Atsunori Kashiwagi14, Kohei Kaku15, Ryuzo Kawamori16, E Shyong Tai17, Oluf Pedersen5,7, Naoyuki Kamatani2, Takashi Kadowaki4, Ryuichi Kikkawa14, Yusuke Nakamura18 & Shiro Maeda1
We conducted a genome-wide association study using 207,097 SNP markers in Japanese individuals with type 2 diabetes and unrelated controls, and identified KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) to be a strong candidate for conferring susceptibility to type 2 diabetes. We detected consistent association of a SNP in KCNQ1 (rs2283228) with the disease in several independent case-control studies (additive model P = 3.1 10-12; OR = 1.26, 95% CI = 1.18–1.34). Several other SNPs in the same linkage disequilibrium (LD) block were strongly associated with type 2 diabetes (additive model: rs2237895, P = 7.3 10-9; OR = 1.32, 95% CI = 1.20–1.45, rs2237897, P = 6.8 10-13; OR = 1.41, 95% CI = 1.29–1.55). The association of these SNPs with type 2 diabetes was replicated in samples from Singaporean (additive model: rs2237895, P = 8.5 10-3; OR = 1.14, rs2237897, P = 2.4 10-4; OR = 1.22) and Danish populations (additive model: rs2237895, P = 3.7 10-11; OR = 1.24, rs2237897, P = 1.2 10-4; OR = 1.36).