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Nat Commun:山东医学院张福仁研究组揭示麻风病新遗传标志物

摘要 : 近日,国际学术权威刊物自然出版集团旗下子刊《Nature Communications》杂志在线发表了山东省医学科学院所属山东省皮肤病性病防治研究所张福仁研究团队的一篇研究论文,研究报道了研究人员发现麻风最新遗传标志物。

 近日,国际学术权威刊物自然出版集团旗下子刊《Nature Communications》杂志在线发表了山东省医学科学院所属山东省皮肤病性病防治研究所张福仁研究团队的一篇研究论文,研究报道了研究人员发现麻风最新遗传标志物。研究有利于构建有效的麻风风险预测模型,实现精准化学预防的前提。

张福仁团队在既往研究基础上,共纳入8156例麻风病和15610例正常对照,除验证了既往发现的所有遗传学标志,还发现了4个新的易感位点,并利用皮损转录组RNA测序技术将易感基因定位于SYN2、BBS9、CTSB和MED30基因。本研究首次证明神经功能相关基因与麻风发病相关,而在麻风病人皮损中的基因表达量显著降低,提示了神经功能相关基因的正常表达可抵抗麻风分枝杆菌在神经末梢的感染。

迄今,张福仁团队共发现22个麻风发病相关的遗传标志物,并以这些标志物为基础成功地构建了麻风发病风险预测模型,利用该模型对山东省逾1.8万麻风密切接触者进行风险评估,筛选高危个体并给予预防性服药,加速了麻风精准预防,实现了基础研究向临床应用的成功转化。

原文链接:

A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy

原文摘要:

Leprosy, a chronic infectious disease, results from the uncultivable pathogen Mycobacterium leprae (M. leprae), and usually progresses to peripheral neuropathy and permanent progressive deformity if not treated. Previously published genetic studies have identified 18 gene/loci significantly associated with leprosy at the genome-wide significant level. However as a complex disease, only a small proportion of leprosy risk could be explained by those gene/loci. To further identify more susceptibility gene/loci, we hereby performed a three-stage GWAS comprising 8,156 leprosy patients and 15,610 controls of Chinese ancestry. Four novel loci were identified including rs6807915 on 3p25.2 (P=1.94 × 10−8, OR=0.89), rs4720118 on 7p14.3 (P=3.85 × 10−10, OR=1.16), rs55894533 on 8p23.1 (P=5.07 × 10−11, OR=1.15) and rs10100465 on 8q24.11 (P=2.85 × 10−11, OR=0.85). Altogether, these findings have provided new insight and significantly expanded our understanding of the genetic basis of leprosy.

来源: Nature Communications 浏览次数:0

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