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首页 » Nat.Genetics:GWAS确定3个“丝绸之路病”相关基因

Nat.Genetics:GWAS确定3个“丝绸之路病”相关基因

来源:新华网 2010-07-22 09:46

古代丝绸之路连通了东亚、中亚和地中海沿岸地区,有一种多发于其沿线地区的疾病也被称为“丝绸之路病”。一个国际研究小组最近报告说确定了与之有关的3个基因。

英国曼彻斯特大学日前发布公告说,该校研究人员参加的一个国际小组分析了“丝绸之路病”发病率最高的土耳其1000多名病人的基因,并与另外数千名东亚、中东和欧洲等丝绸之路沿线地区健康人的基因进行了对比,结果不仅证实了基因“HLA-B51”与这种疾病有关,还新确认基因“IL10”和“IL23R-IL12RB2”也与这种疾病有关。

曼彻斯特大学教授比尔·奥利尔说,这是第一次通过大规模国际合作和研究来确定与“丝绸之路病”相关的基因,这将有助于探究其发病的生物学机理,从而为研发有效的药物铺平道路。

“丝绸之路病”的专业名称是白塞氏综合征,其症状表现为人体免疫系统过于活跃,攻击血管,导致口腔和生殖器等部位出现溃疡,对眼睛也会造成影响,严重的会导致失明。其发病范围东起东亚如日本、朝鲜、中国,向西延伸至中亚如土耳其、伊朗,直到地中海沿岸地区,与古代丝绸之路基本吻合。

研究报告发表在新一期英国《自然·遗传学》学术期刊上。(生物谷Bioon.com)

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生物谷推荐原文出处:

Nature Genetics  doi:10.1038/ng.625

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Beh?et's disease
Elaine F Remmers1, Fulya Cosan2, Yohei Kirino1, Michael J Ombrello1, Neslihan Abaci3, Colleen Satorius1, Julie M Le1, Barbara Yang4, Benjamin D Korman1, Aris Cakiris3, Oznur Aglar3, Zeliha Emrence3, Hulya Azakli3, Duran Ustek3, Ilknur Tugal-Tutkun5, Gulsen Akman-Demir6, Wei Chen7, Christopher I Amos7, Michael B Dizon4, Afet Akdag Kose8, Gulsevim Azizlerli8, Burak Erer2, Oliver J Brand9, Virginia G Kaklamani10, Phaedon Kaklamanis11, Eldad Ben-Chetrit12, Miles Stanford13, Farida Fortune14, Marwen Ghabra15, William E R Ollier16, Young-Hun Cho17, Dongsik Bang18, John O'Shea19, Graham R Wallace20, Massimo Gadina4, Daniel L Kastner1 & Ahmet Gül2,3

Beh?et's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and skin. We performed a genome-wide association study with 311,459 SNPs in 1,215 individuals with Beh?et's disease (cases) and 1,278 healthy controls from Turkey. We confirmed the known association of Beh?et's disease with HLA-B*51 and identified a second, independent association within the MHC Class I region. We also identified an association at IL10 (rs1518111, P = 1.88 × 10?8). Using a meta-analysis with an additional five cohorts from Turkey, the Middle East, Europe and Asia, comprising a total of 2,430 cases and 2,660 controls, we identified associations at IL10 (rs1518111, P = 3.54 × 10?18, odds ratio = 1.45, 95% CI 1.34–1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 × 10?9, OR = 1.28, 95% CI 1.18–1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production.

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