Babaya N, Ikegami H, Fujisawa T, Hotta M, Ueda H, Shintani M, Nojima K, Kawabata Y, Ono M, Nishino M, Itoi-Babaya M, Taniguchi H, Noso S, Horiki M, Yamada K, Kawaguchi Y, Fukuda M, Ogihara T
Department of Geriatric Medicine, Osaka University Graduate School of Medicine, Suita, Japan.
Diabetes Nutr Metab. 2001 Aug;14(4):220-4.
Mutations in the hepatocyte nuclear factor-1beta (HNF-1beta) gene have been shown to be a cause of maturity-onset diabetes of the young (MODY). We studied the contribution of the HNF-1beta gene to susceptibility to common forms of Type 2 diabetes in the genetically homogeneous Japanese population, by investigating the allelic association of Type 2 diabetes with two markers in the HNF-1beta region. The frequency of a nonsense mutation, R177X, which was previously reported in a Japanese family, was also studied by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method using a mismatch primer. A total of 200 subjects were studied. There was no significant difference in allele frequencies of either of the two polymorphisms studied between patients with Type 2 diabetes and control subjects, or between subgroups of patients subdivided by the presence of mild or severe diabetic nephropathy. None of the subjects studied had R177X mutation, giving a frequency of less than 1.1% in common forms of Type 2 diabetes in Japan. These results suggest that mutations in the HNF-1beta gene derived from a limited number of founders are not a major cause of common forms of Type 2 diabetes, even in the genetically homogeneous Japanese population.
肝细胞细胞核因子-1β（HNF-1β）基因突变已被证实是青少年发病的成年型糖尿病（MODY）的病因之一。我们通过研究HNF-1β区域两个标记与2型糖尿病的等位基因关联，探讨了在基因同质的日本人群中，HNF-1β基因对常见类型2型糖尿病易感性的影响。还使用错配引物通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法研究了先前在一个日本家族中报道的无义突变R177X的频率。总共研究了200名受试者。在2型糖尿病患者与对照受试者之间，或者在根据轻度或重度糖尿病肾病的存在进行细分的患者亚组之间，所研究的两种多态性的等位基因频率均无显著差异。所研究的受试者均无R177X突变，在日本常见类型的2型糖尿病中，其频率低于1.1%。这些结果表明，即使在基因同质的日本人群中，源自少数奠基者的HNF-1β基因突变也不是常见类型2型糖尿病的主要病因。
