title: A rare variant at 11p13 is associated with tuberculosis susceptibility in the Han Chinese population.
abstract: Genome-wide association studies (GWASs) have yet to be conducted for tuberculosis (TB) susceptibility in China. Two previously identified single nucleotide polymorphisms (SNPs) from tuberculosis GWASs, rs2057178 and rs4331426, were evaluated for TB predisposition. The associations between SNPs and gene expression levels were analyzed using the genomic data and corresponding whole-genome expression of the Han Chinese in Beijing, China. Genotyping was successfully completed for 763 pulmonary TB patients and 763 healthy controls. The T allele of the rare variant rs2057178 was significantly associated with TB predisposition (χ(2) = 14.07, P = 0.0002). Meanwhile, the CT genotype of rs2057178 was associated with a decreased risk of TB (adjusted OR = 0.52, 95% CI, 0.34-0.78). The CT genotype of rs2057178 was also associated with decreased expression levels of infection-related gene, suppressor of cytokine signaling 2 (SOCS2), and increased expression levels of v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB). No gene expression levels were found to be associated with the genotype of rs4331426. We found that the rare variant rs2057178 was significantly associated with TB in the Han Chinese population. Moreover, the expression levels of MAFB and SOCS2 correlated with rs2057178 and might be potential candidates for assessing TB susceptibility.
authors.affiliation: School of Public Health, Fudan University, Shanghai, China.|Department of Chronic Communicable Disease, Center for Disease Control and Prevention of Jiangsu Province, Nanjing, China.|Key Laboratory of Public Health Safety (Fudan University), Ministry of Education, Shanghai, China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Chen
authors.affiliation: School of Public Health, Fudan University, Shanghai, China.|Key Laboratory of Public Health Safety (Fudan University), Ministry of Education, Shanghai, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Zhao
authors.affiliation: School of Public Health, Fudan University, Shanghai, China.|Key Laboratory of Public Health Safety (Fudan University), Ministry of Education, Shanghai, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Hu
authors.affiliation: Department of Chronic Communicable Disease, Center for Disease Control and Prevention of Jiangsu Province, Nanjing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Shao
authors.affiliation: Department of Chronic Communicable Disease, Center for Disease Control and Prevention of Jiangsu Province, Nanjing, China.
authors.forename: Guoli
authors.initials: G
authors.lastname: Li
authors.affiliation: Department of Chronic Communicable Disease, Center for Disease Control and Prevention of Jiangsu Province, Nanjing, China.
authors.forename: Limei
authors.initials: L
authors.lastname: Zhu
authors.affiliation: Department of Chronic Communicable Disease, Center for Disease Control and Prevention of Jiangsu Province, Nanjing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Lu
authors.affiliation: School of Public Health, Fudan University, Shanghai, China.|Key Laboratory of Public Health Safety (Fudan University), Ministry of Education, Shanghai, China.|Department of Public Health Sciences (Global Health / IHCAR), Karolinska Institutet, Stockholm, Sweden.
authors.forename: Biao
authors.initials: B
authors.lastname: Xu
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003140:Communicable Disease Control; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D059425:Interferon-gamma Release Tests; D051258:MafB Transcription Factor / Q000235:genetics; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D050826:Suppressor of Cytokine Signaling Proteins / Q000235:genetics; D014397:Tuberculosis, Pulmonary / Q000208:ethnology* / Q000235:genetics*
chemical_list: C490407:MAFB protein, human; D051258:MafB Transcription Factor; C106643:SOCS2 protein, human; D050826:Suppressor of Cytokine Signaling Proteins