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Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese
by
Zhang, D-F
, Yao, Y-G
, Wang, D
, Li, Y-Y
in
631/208/2489/144
/ 631/250/2501
/ 631/250/255/1318
/ Adolescent
/ Adult
/ Antigens, Bacterial - genetics
/ Association analysis
/ Biomedical and Life Sciences
/ Biomedicine
/ Blood Proteins - genetics
/ Blood Proteins - metabolism
/ Cancer Research
/ Case-Control Studies
/ Child
/ China
/ Complement factor H
/ Complement Factor H - genetics
/ Complement Factor H - metabolism
/ Complement system
/ Dermatology
/ Factor H-binding protein
/ Female
/ Gene Expression
/ Gene mapping
/ Genes
/ Genetic aspects
/ Genetic diversity
/ Genetic variation
/ Globular proteins
/ Haplotypes
/ Homeostasis
/ Human Genetics
/ Humans
/ Identification and classification
/ Immunology
/ Leprosy
/ Leprosy - genetics
/ Male
/ Mutation, Missense
/ Mycobacterium leprae
/ Mycobacterium leprae - genetics
/ Pathogens
/ Polymorphism, Single Nucleotide
/ Properties
/ Proteins
/ Quantitative trait loci
/ Risk factors
/ short-communication
/ Single-nucleotide polymorphism
/ Zoology
2014
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Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese
by
Zhang, D-F
, Yao, Y-G
, Wang, D
, Li, Y-Y
in
631/208/2489/144
/ 631/250/2501
/ 631/250/255/1318
/ Adolescent
/ Adult
/ Antigens, Bacterial - genetics
/ Association analysis
/ Biomedical and Life Sciences
/ Biomedicine
/ Blood Proteins - genetics
/ Blood Proteins - metabolism
/ Cancer Research
/ Case-Control Studies
/ Child
/ China
/ Complement factor H
/ Complement Factor H - genetics
/ Complement Factor H - metabolism
/ Complement system
/ Dermatology
/ Factor H-binding protein
/ Female
/ Gene Expression
/ Gene mapping
/ Genes
/ Genetic aspects
/ Genetic diversity
/ Genetic variation
/ Globular proteins
/ Haplotypes
/ Homeostasis
/ Human Genetics
/ Humans
/ Identification and classification
/ Immunology
/ Leprosy
/ Leprosy - genetics
/ Male
/ Mutation, Missense
/ Mycobacterium leprae
/ Mycobacterium leprae - genetics
/ Pathogens
/ Polymorphism, Single Nucleotide
/ Properties
/ Proteins
/ Quantitative trait loci
/ Risk factors
/ short-communication
/ Single-nucleotide polymorphism
/ Zoology
2014
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Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese
by
Zhang, D-F
, Yao, Y-G
, Wang, D
, Li, Y-Y
in
631/208/2489/144
/ 631/250/2501
/ 631/250/255/1318
/ Adolescent
/ Adult
/ Antigens, Bacterial - genetics
/ Association analysis
/ Biomedical and Life Sciences
/ Biomedicine
/ Blood Proteins - genetics
/ Blood Proteins - metabolism
/ Cancer Research
/ Case-Control Studies
/ Child
/ China
/ Complement factor H
/ Complement Factor H - genetics
/ Complement Factor H - metabolism
/ Complement system
/ Dermatology
/ Factor H-binding protein
/ Female
/ Gene Expression
/ Gene mapping
/ Genes
/ Genetic aspects
/ Genetic diversity
/ Genetic variation
/ Globular proteins
/ Haplotypes
/ Homeostasis
/ Human Genetics
/ Humans
/ Identification and classification
/ Immunology
/ Leprosy
/ Leprosy - genetics
/ Male
/ Mutation, Missense
/ Mycobacterium leprae
/ Mycobacterium leprae - genetics
/ Pathogens
/ Polymorphism, Single Nucleotide
/ Properties
/ Proteins
/ Quantitative trait loci
/ Risk factors
/ short-communication
/ Single-nucleotide polymorphism
/ Zoology
2014
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Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese
Journal Article
Mapping genetic variants in the CFH gene for association with leprosy in Han Chinese
2014
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Overview
Complement factor H (CFH) is an essential regulator in the homeostasis of the complement system that plays multiple roles in leprosy. We previously reported a preliminary association of
CFH
with leprosy, but potentially causal variants remain to be identified. In this study, we performed a fine-mapping association analysis in 1110 individuals (527 leprosy patients and 583 controls) followed by bioinformatic analyses. We identified no association of typical missense
CFH
variants with leprosy and factor H-binding protein was not detected in
Mycobacterium leprae
. However, robust associations (
P
Bonferroni
<0.003) of several
CFH
intronic tag single-nucleotide polymorphisms with leprosy were observed. Expression quantitative trait locus analysis showed that these leprosy-protective alleles were associated with higher
CFH
level and lower
CFHR3
(complement factor H-related 3) level. Our results indicated that
CFH
variants may contribute to leprosy pathogenesis through altering
CFH
expression, leading to regulation of complement activity rather than mediating immune evasion by bacteria binding.
Publisher
Nature Publishing Group UK,Nature Publishing Group
Subject
/ Adult
/ Antigens, Bacterial - genetics
/ Biomedical and Life Sciences
/ Child
/ China
/ Complement Factor H - genetics
/ Complement Factor H - metabolism
/ Female
/ Genes
/ Humans
/ Identification and classification
/ Leprosy
/ Male
/ Mycobacterium leprae - genetics
/ Polymorphism, Single Nucleotide
/ Proteins
/ Single-nucleotide polymorphism
/ Zoology
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