日本國立國際醫(yī)療中心和理化學(xué)研究所為中心的兩個科研小組8月17日同時在《自然—遺傳學(xué)》（Nature Genetics）網(wǎng)絡(luò)版上發(fā)表了各自的研究成果,。這兩個小組以日本人為對象分別進(jìn)行研究,，查明了與易患Ⅱ型糖尿病密切相關(guān)的遺傳基因,。Ⅱ型糖尿病也叫成人發(fā)病型糖尿病,，約占糖尿病患者的95%,。
據(jù)日本共同社報道,，被查明的遺傳基因名為“KCNQ1”,。迄今為止人們已了解到“KCNQ1”對心臟肌肉的活動非常重要,。此次研究表明,，“KCNQ1”的堿基排列稍有差錯，Ⅱ型糖尿病的發(fā)病危險性便會提高1.3～1.4倍,。
此前以歐美人為對象的相關(guān)研究發(fā)現(xiàn)了多種與Ⅱ型糖尿病相關(guān)的遺傳基因,，但以亞洲人為對象確定相關(guān)基因尚屬首次,。人們希望該發(fā)現(xiàn)能有助于進(jìn)行預(yù)防Ⅱ型糖尿病的體質(zhì)診斷以及研制出新的治療方法。
兩個小組以中國人,、韓國人、新加坡人,、芬蘭人及丹麥人為對象,，對不同對象分別進(jìn)行了幾千人規(guī)模的調(diào)查。調(diào)查結(jié)果顯示,，對所有人種而言,，“KCNQ1”基因與易患Ⅱ型糖尿病均密切相關(guān)。（生物谷Bioon.com）
生物谷推薦原始出處：
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).
