Research Papers:

SP110 and PMP22 polymorphisms are associated with tuberculosis risk in a Chinese-Tibetan population

Guoxia Ren, Jiangtao You, Xianfeng Gong, Xiucheng Zhang, Lin Zhao, Xianglan Wei, Tianbo Jin and Mingwei Chen _

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Oncotarget. 2016; 7:66100-66108. https://doi.org/10.18632/oncotarget.11847

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Guoxia Ren1,2, Jiangtao You3, Xianfeng Gong2, Xiucheng Zhang2, Lin Zhao2, Xianglan Wei2, Tianbo Jin4,5,6, Mingwei Chen1

1Department 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

2Department of Intergrated Traditional Chinese and Western Medicine, Xi’an Chest Hospital, Xi’an 710061, People’s Republic of China

3Department of Thoracic Surgery, First Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710061, People’s Republic of China

4School of Life Sciences, Northwest University, Xi’an 710069, People’s Republic of China

5Key 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

6Xi’an Tiangen Precision Medical Institute, Xi’an 710075, People’s Republic of China

Correspondence to:

Mingwei Chen, email: [email protected], [email protected]

Keywords: SP110, PMP22, single nucleotide polymorphism (SNP), tuberculosis (TB), Tibet

Received: May 30, 2016     Accepted: July 19, 2016     Published: September 6, 2016


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.

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