古代絲綢之路連通了東亞,、中亞和地中海沿岸地區(qū),，有一種多發(fā)于其沿線地區(qū)的疾病也被稱為“絲綢之路病”,。一個(gè)國(guó)際研究小組最近報(bào)告說確定了與之有關(guān)的3個(gè)基因。
英國(guó)曼徹斯特大學(xué)日前發(fā)布公告說,，該校研究人員參加的一個(gè)國(guó)際小組分析了“絲綢之路病”發(fā)病率最高的土耳其1000多名病人的基因,，并與另外數(shù)千名東亞、中東和歐洲等絲綢之路沿線地區(qū)健康人的基因進(jìn)行了對(duì)比,，結(jié)果不僅證實(shí)了基因“HLA－B51”與這種疾病有關(guān),，還新確認(rèn)基因“IL10”和“IL23R－IL12RB2”也與這種疾病有關(guān)。
曼徹斯特大學(xué)教授比爾·奧利爾說,，這是第一次通過大規(guī)模國(guó)際合作和研究來(lái)確定與“絲綢之路病”相關(guān)的基因,，這將有助于探究其發(fā)病的生物學(xué)機(jī)理，從而為研發(fā)有效的藥物鋪平道路,。
“絲綢之路病”的專業(yè)名稱是白塞氏綜合征,，其癥狀表現(xiàn)為人體免疫系統(tǒng)過于活躍，攻擊血管,，導(dǎo)致口腔和生殖器等部位出現(xiàn)潰瘍,，對(duì)眼睛也會(huì)造成影響,，嚴(yán)重的會(huì)導(dǎo)致失明。其發(fā)病范圍東起東亞如日本,、朝鮮,、中國(guó)，向西延伸至中亞如土耳其,、伊朗,，直到地中海沿岸地區(qū)，與古代絲綢之路基本吻合,。
研究報(bào)告發(fā)表在新一期英國(guó)《自然·遺傳學(xué)》學(xué)術(shù)期刊上,。(生物谷Bioon.com)
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生物谷推薦原文出處：
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.
