title: A large-scale genome-wide association and meta-analysis identified four novel susceptibility loci for leprosy.
abstract: 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.
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Zhenzhen
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Yonghu
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Xi'an
authors.initials: X
authors.lastname: Fu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine and Life Science, University of Jinan-Shandong Academy of Medical Sciences, Jinan, Shandong 250022, China.
authors.forename: Gongqi
authors.initials: G
authors.lastname: Yu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Chuan
authors.initials: C
authors.lastname: Wang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Fangfang
authors.initials: F
authors.lastname: Bao
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Yue
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Jianke
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authors.lastname: Li
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Lele
authors.initials: L
authors.lastname: Sun
authors.affiliation: Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
authors.forename: Astrid
authors.initials: A
authors.lastname: Irwanto
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Yongxiang
authors.initials: Y
authors.lastname: Yu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Mingfei
authors.initials: M
authors.lastname: Chen
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Zihao
authors.initials: Z
authors.lastname: Mi
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Honglei
authors.initials: H
authors.lastname: Wang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Pengcheng
authors.initials: P
authors.lastname: Huai
authors.affiliation: Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
authors.forename: Yi
authors.initials: Y
authors.lastname: Li
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Tiantian
authors.initials: T
authors.lastname: Du
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Wenjun
authors.initials: W
authors.lastname: Yu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Yang
authors.initials: Y
authors.lastname: Xia
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Hailu
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Jiabao
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authors.lastname: You
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Jinghui
authors.initials: J
authors.lastname: Li
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
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authors.initials: Q
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Na
authors.initials: N
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Panpan
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authors.lastname: Shang
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.
authors.forename: Guiye
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authors.lastname: Niu
authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
authors.forename: Xiuhuan
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.
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authors.affiliation: Human Genetics, Genome Institute of Singapore, Singapore 138672, Singapore.
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authors.affiliation: Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong 250000, China.|Shandong Provincial Key Laboratory for Dermatovenereology, Jinan, Shandong 250000, China.|School of Medicine, Shandong University, Jinan, Shandong 250000, China.|School of Medicine and Life Science, University of Jinan-Shandong Academy of Medical Sciences, Jinan, Shandong 250022, China.|Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong 250000, China.|National Clinical Key Project of Dermatology and Venereology, Jinan, Shandong 250000, China.
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mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D007918:Leprosy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015203:Reproducibility of Results