Nat. Genetics:发现与白塞病相关基因

2010-08-12 00:00 · Craig

日本研究人员在英国《自然遗传学》(Nature Genetics)杂志网络版上报告说,他们发现了与白塞病发病有关的基因。这一研究成果有可能为开发相关治疗药物开辟道路。 日本横滨市立大学和北海道大学组成的联合研究小组以612名白塞病患者和740名健康人为对象,研究和对比了他们的染色

日本研究人员在英国《自然遗传学》(Nature Genetics)杂志网络版上报告说,他们发现了与白塞病发病有关的基因。这一研究成果有可能为开发相关治疗药物开辟道路。

日本横滨市立大学和北海道大学组成的联合研究小组以612名白塞病患者和740名健康人为对象,研究和对比了他们的染色体。结果发现,白塞病患者体内与免疫反应有关的基因发生了变异。它们分别是抑制过剩免疫反应的白细胞介素(IL)10以及作为控制免疫反应开关的IL23R和IL12RNB2基因。

白塞病是一种难治之症,患者眼睛和皮肤会出现炎症,甚至会导致失明,属自身免疫疾病。

生物谷推荐原文出处:

Nature Genetics doi:10.1038/ng.624

Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Beh?et's disease susceptibility loci

Nobuhisa Mizuki1,13, Akira Meguro1,13, Masao Ota2, Shigeaki Ohno3, Tomoko Shiota1, Tatsukata Kawagoe1, Norihiko Ito1, Jiro Kera1, Eiichi Okada4, Keisuke Yatsu5, Yeong-Wook Song6, Eun-Bong Lee6, Nobuyoshi Kitaichi7, Kenichi Namba8, Yukihiro Horie8, Mitsuhiro Takeno9, Sunao Sugita10, Manabu Mochizuki10, Seiamak Bahram11,12, Yoshiaki Ishigatsubo9 " Hidetoshi Inoko5

Beh?et's disease is a chronic systemic inflammatory disorder characterized by four major manifestations: recurrent ocular symptoms, oral and genital ulcers and skin lesions1. We conducted a genome-wide association study in a Japanese cohort including 612 individuals with Beh?et's disease and 740 unaffected individuals (controls). We identified two suggestive associations on chromosomes 1p31.3 (IL23R-IL12RB2, rs12119179, P = 2.7 × 10?8) and 1q32.1 (IL10, rs1554286, P = 8.0 × 10?8). A meta-analysis of these two loci with results from additional Turkish and Korean cohorts showed genome-wide significant associations (rs1495965 in IL23R-IL12RB2, P = 1.9 × 10?11, odds ratio = 1.35; rs1800871 in IL10, P = 1.0 × 10?14, odds ratio = 1.45).

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