Hotta Kikuko, Nakamura Michihiro, Nakata Yoshio, Matsuo Tomoaki, Kamohara Seika, Kotani Kazuaki, Komatsu Ryoya, Itoh Naoto, Mineo Ikuo, Wada Jun, Masuzaki Hiroaki, Yoneda Masato, Nakajima Atsushi, Miyazaki Shigeru, Tokunaga Katsuto, Kawamoto Manabu, Funahashi Tohru, Hamaguchi Kazuyuki, Yamada Kentaro, Hanafusa Toshiaki, Oikawa Shinichi, Yoshimatsu Hironobu, Nakao Kazuwa, Sakata Toshiie, Matsuzawa Yuji, Tanaka Kiyoji, Kamatani Naoyuki, Nakamura Yusuke
Laboratory for Endocrinology and Metabolism, Center for Genomic Medicine, RIKEN, 1-7-22 Suehiro, Tsurumi-ku, Yokohama, Kanagawa, 230-0045, Japan.
Institute of Health and Sport Sciences, University of Tsukuba, Ibaraki, Japan.
J Hum Genet. 2008;53(9):857-862. doi: 10.1007/s10038-008-0317-8. Epub 2008 Jul 10.
The single nucleotide polymorphism (SNP) rs7566605 in the upstream region of the insulin-induced gene 2 (INSIG2) is associated with the obesity phenotype in many Caucasian populations. In Japanese, this association with the obesity phenotype is not clear. To investigate the relationship between rs7566605 and obesity in Japanese, we genotyped rs7566605 from severely obese subjects [n = 908, body mass index (BMI) > or = 30 kg/m2] and normal-weight control subjects (n = 1495, BMI < 25 kg/m2). A case-control association analysis revealed that rs7566605 was significantly associated with obesity in Japanese. The P value in the minor allele recessive mode was 0.00020, and the odds ratio (OR) adjusted for gender and age was 1.61 [95% confidential interval (CI) = 1.24-2.09]. Obesity-associated phenotypes, which included the level of BMI, plasma glucose, hemoglobin A1c, total cholesterol, triglycerides, high-density lipoprotein (HDL) cholesterol, and blood pressure, were not associated with the rs7566605 genotype. Thus, rs7566605 in the upstream region of the INSIG2 gene was found to be associated with obesity, i.e., severe obesity, in Japanese.
胰岛素诱导基因2（INSIG2）上游区域的单核苷酸多态性（SNP）rs7566605与许多白种人群的肥胖表型相关。在日本人中，这种与肥胖表型的关联尚不清楚。为了研究rs7566605与日本人肥胖之间的关系，我们对重度肥胖受试者（n = 908，体重指数（BMI）≥30 kg/m2）和正常体重对照受试者（n = 1495，BMI < 25 kg/m2）的rs7566605进行了基因分型。病例对照关联分析显示，rs7566605与日本人的肥胖显著相关。次要等位基因隐性模式下的P值为0.00020，经性别和年龄调整后的优势比（OR）为1.61 [95%置信区间（CI）= 1.24 - 2.09]。肥胖相关表型，包括BMI水平、血浆葡萄糖、糖化血红蛋白A1c、总胆固醇、甘油三酯、高密度脂蛋白（HDL）胆固醇和血压，与rs7566605基因型无关。因此，发现INSIG2基因上游区域的rs7566605与日本人的肥胖，即重度肥胖相关。
