SP110 and PMP22 polymorphisms are associated with tuberculosis risk in a Chinese-Tibetan population.
Susceptibility to tuberculosis (TB) is partially dependent on host genetic variability. SP110 and PMP22 are candidate genes identified in this study as associated with human susceptibility to TB. Here we performed an association analysis in a case-control study of a Tibetan population (217 cases and 383 controls). Using bioinformatics methods, we identified two SNPs in SP110 that may decrease susceptibility to TB (rs4327230, p<0.001, OR: 0.37, 95%CI: 0.25-0.55; rs2114591, p<0.001, OR: 0.59, 95%CI: 0.45-0.78), whereas one SNP in PMP22 appeared to increase TB risk (rs13422, p=0.003, OR: 1.45, 95%CI: 1.14-1.84). SNPs rs4327230 and rs2114591 remained significant after Bonferroni correction (p<0.00178). We found that the "GC" haplotype in SP110 was protective against TB, with a 64% reduction in disease risk. "CA" and "CG" in PMP22 were also associated with a protective effect. Our study indicates there is an association between specific gene polymorphisms and TB risk in a Tibetan population, and may help to identify those TB-affected individuals most susceptible to disease.
Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of School of Medicine of Xi'an Jiaotong University, Xi'an 710061, People's Republic of China.|Department of Intergrated Traditional Chinese and Western Medicine, Xi'an Chest Hospital, Xi'an 710061, People's Republic of China.
Guoxia
G
Ren
Department of Thoracic Surgery, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, People's Republic of China.
Jiangtao
J
You
Department of Intergrated Traditional Chinese and Western Medicine, Xi'an Chest Hospital, Xi'an 710061, People's Republic of China.
Xianfeng
X
Gong
Department of Intergrated Traditional Chinese and Western Medicine, Xi'an Chest Hospital, Xi'an 710061, People's Republic of China.
Xiucheng
X
Zhang
Department of Intergrated Traditional Chinese and Western Medicine, Xi'an Chest Hospital, Xi'an 710061, People's Republic of China.
Lin
L
Zhao
Department of Intergrated Traditional Chinese and Western Medicine, Xi'an Chest Hospital, Xi'an 710061, People's Republic of China.
Xianglan
X
Wei
School of Life Sciences, Northwest University, Xi'an 710069, People's Republic of China.|Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang 712082, People's Republic of China.|Xi'an Tiangen Precision Medical Institute, Xi'an 710075, People's Republic of China.
Tianbo
T
Jin
Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of School of Medicine of Xi'an Jiaotong University, Xi'an 710061, People's Republic of China.
Mingwei
M
Chen
D000328:Adult; D044466:Asian People / Q000235:genetics*; D014408:Biomarkers, Tumor / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D015778:Minor Histocompatibility Antigens / Q000235:genetics*; D009169:Mycobacterium tuberculosis / Q000302:isolation & purification; D009185:Myelin Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D012307:Risk Factors; D018609:Tibet / Q000453:epidemiology; D014376:Tuberculosis / Q000175:diagnosis* / Q000453:epidemiology / Q000209:etiology; D055815:Young Adult
D014408:Biomarkers, Tumor; D015778:Minor Histocompatibility Antigens; D009185:Myelin Proteins; D009687:Nuclear Proteins; C073687:PMP22 protein, human; C412425:Sp110 protein, human
PMP22; SP110; Tibet; single nucleotide polymorphism (SNP); tuberculosis (TB)