由安徽醫(yī)科大學(xué)張學(xué)軍教授領(lǐng)銜的研究團(tuán)隊(duì)歷時(shí)5年,,運(yùn)用全基因組關(guān)聯(lián)分析研究(GWAS)成功發(fā)現(xiàn)了白癜風(fēng)易感基因,首次在國際上明確白癜風(fēng)是自身免疫性疾病,,為最終征服白癜風(fēng)這種復(fù)雜疾病奠定了第一步基礎(chǔ),。
據(jù)介紹,白癜風(fēng)是一種常見的色素脫失性皮膚病,,皮膚黑素細(xì)胞被破壞,,但是原因不明。目前,,我國患者人數(shù)已經(jīng)超過1000萬,。由于該病發(fā)無定處,但好發(fā)于顏面等暴露部位,,所及之處皮膚色素完全脫失而成瓷白色,,嚴(yán)重影響形象美觀,甚至毀損患者容貌,,給患者帶來巨大精神痛苦,。與此同時(shí),白癜風(fēng)還經(jīng)常合并炎癥性腸病,、銀屑病,、類風(fēng)濕性關(guān)節(jié)炎、甲狀腺病,、糖尿病,、惡性貧血以及系統(tǒng)性紅斑狼瘡等多種自身免疫性疾病,嚴(yán)重危害患者身心健康和生活質(zhì)量,。
張學(xué)軍教授領(lǐng)銜的安徽醫(yī)科大學(xué)第二,、第一附屬醫(yī)院皮膚病遺傳學(xué)研究團(tuán)隊(duì)與復(fù)旦大學(xué)華山醫(yī)院等國內(nèi)30多家單位共同協(xié)作,依托安徽醫(yī)科大學(xué)皮膚病學(xué)教育部重點(diǎn)實(shí)驗(yàn)室和國家人類基因組南方研究中心的全基因組關(guān)聯(lián)分析技術(shù)平臺(tái)和獨(dú)特的生物信息分析技術(shù),,在國家863計(jì)劃,、973計(jì)劃、國家自然科學(xué)基金重點(diǎn)項(xiàng)目等資助下,,歷時(shí)5年,,對(duì)近2萬例中國白癜風(fēng)患者和健康人對(duì)照進(jìn)行基因分型。在人類基因組的3個(gè)區(qū)域內(nèi)發(fā)現(xiàn)與白癜風(fēng)發(fā)病密切相關(guān)的4個(gè)易感基因,,這些易感基因的異常表現(xiàn)將導(dǎo)致白癜風(fēng)的發(fā)生,。(生物谷Bioon.com)
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生物谷推薦原文出處:
Nature Genetics doi:10.1038/ng.603
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC
Cheng Quan,Yun-Qing Ren,Lei-Hong Xiang,Liang-Dan Sun,Ai-E Xu,Xing-Hua Gao,Hong-Duo Chen,Xiong-Ming Pu,Ri-Na Wu,Chao-Zhao Liang,Jia-Bin Li,Tian-Wen Gao,Jian-Zhong Zhang,Xiu-Li Wang,Jun Wang,Rong-Ya Yang,Ling Liang,Jian-Bin Yu,Xian-Bo Zuo,Sheng-Quan Zhang,Shu-Mei Zhang,Gang Chen,Xiao-Dong Zheng,Pan Li,Jun Zhu,Yong-Wei Li,Xiao-Dong Wei,Wei-Song Hong,Ying Ye,Yong Zhang,Wei-Su Wu,Hui Cheng,Pu-Ling Dong,Da-Yan Hu,Yang Li,Min Li,Xin Zhang,Hua-Yang Tang,Xian-Fa Tang,Sheng-Xin Xu,Su-Min He,Yong-Mei Lv,Min Shen,Hong-Quan Jiang,Ying Wang,Kai Li,Xiao-Jing Kang,Yu-Qin Liu,Li Sun,Zhi-Fang Liu,Shao-Qiong Xie,Cheng-Yao Zhu,Qiang Xu,Jin-Ping Gao,Wen-Long Hu,Cheng Ni,Ting-Meng Pan,Yun Li,Sha Yao,Cai-Feng He,Yang-Sheng Liu,Ze-Ying Yu,Xian-Yong Yin,Feng-Yu Zhang,Sen Yang,Youwen Zhou& Xue-Jun Zhang
We conducted a genome-wide association study of generalized vitiligo in the Chinese Han population by genotyping 1,117 cases and 1,429 controls. The 34 most promising SNPs were carried forward for replication in samples from individuals of the Chinese Han (5,910 cases and 9,916 controls) and Chinese Uygur (713 cases and 824 controls) populations. We identified two independent association signals within the major histocompatibility complex (MHC) region (rs11966200, Pcombined = 1.48 × 10?48, OR = 1.90; rs9468925, Pcombined = 2.21 × 10?33, OR = 0.74). Further analyses suggested that the strong association at rs11966200 might reflect the reported association of the HLA-A*3001, HLA-B*1302, HLA-C*0602 and HLA-DRB1*0701 alleles and that the association at rs9468925 might represent a previously unknown HLA susceptibility allele. We also identified one previously undescribed risk locus at 6q27 (rs2236313, Pcombined = 9.72 × 10?17, OR = 1.20), which contains three genes: RNASET2, FGFR1OP and CCR6. Our study provides new insights into the genetic basis of vitiligo.