日本研究人員在英國《自然·遺傳學(xué)》(Nature Genetics)雜志網(wǎng)絡(luò)版上報告說,,他們發(fā)現(xiàn)了與白塞病發(fā)病有關(guān)的基因。這一研究成果有可能為開發(fā)相關(guān)治療藥物開辟道路,。
日本橫濱市立大學(xué)和北海道大學(xué)組成的聯(lián)合研究小組以612名白塞病患者和740名健康人為對象,,研究和對比了他們的染色體。結(jié)果發(fā)現(xiàn),,白塞病患者體內(nèi)與免疫反應(yīng)有關(guān)的基因發(fā)生了變異,。它們分別是抑制過剩免疫反應(yīng)的白細(xì)胞介素(IL)10以及作為控制免疫反應(yīng)開關(guān)的IL23R和IL12RNB2基因。
白塞病是一種難治之癥,患者眼睛和皮膚會出現(xiàn)炎癥,,甚至?xí)?dǎo)致失明,,屬自身免疫疾病。(生物谷Bioon.com)
生物谷推薦原文出處:
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).