Research Papers:
Association of IFNGR1 and IFNG genetic polymorphisms with the risk for pulmonary tuberculosis in the Chinese Tibetan population
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Abstract
Shumei He1,2,3,*, Bo Wang4,*, Xikai Zhu1,2,3, Zhengshuai Chen5, Junyu Chen6, Demi Hua7, Deji Droma7, Wensheng Li6, Dongya Yuan1,2,3 and Tianbo Jin1,2,3,5
1Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
2Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
3Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China
4Department of The 4th Internal Medicine, Xi'an Chest Hospital, Xi'an TB&Thoracic Tumor Hospital, Xi'an, Shaanxi 710100, China
5School of Life Sciences, Northwest University, Xi’an, Shaanxi 710069, China
6The Second Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region 010030, China
7Department of Lung, The Third Hospital of Tibet Autonomous Region, Lhasa, Tibet 850000, China
*These authors have contributed equally to this work
Correspondence to:
Tianbo Jin, email: [email protected]
Keywords: pulmonary tuberculosis; single nucleotide polymorphisms; IFNGR1; IFNG; haplotype
Abbreviations: Pulmonary Tuberculosis: PTB; Single nucleotide polymorphism: SNP; Odds ratios: ORs; Confidence intervals: CI; Linkage disequilibrium: LD
Received: March 06, 2017 Accepted: August 28, 2017 Published: September 30, 2017
ABSTRACT
Interferon-gamma (IFNG) and its receptor (IFNGR1) are principal genes that associated with tuberculosis. In the current study we aimed to explore the genetic association of polymorphisms of IFNG and IFNGR1 with the risk of pulmonary tuberculosis (PTB) in the Chinese Tibetan population. We selected 467 PTB patients and 503 healthy controls to genotype 9 single nucleotide polymorphisms (SNPs). The unconditional logistic regression analysis was applied for assessing the associations, and the risk of PTB were evaluated by calculating the odds ratio (OR) and 95% confidence interval (CI). The results showed that mutants of rs9376268, rs1327475 and rs1327474 in IFNGR1 played a protective role in the PTB risk under genotype, dominant and additive model (P<0.05). On the contrary, minor allele “A” of rs2069705 in IFNG significantly increased the risk of PTB under genotype, dominant and additive model (P<0.05). However, after Bonferroni’s multiple adjustment was applied to our data, which level of significant was set at P<0.0011 (0.05/45). Only variant of rs9376268 was significantly associated decrease the PTB susceptibility under additive model (OR=0.73, 95%CI=0.61-0.88, P<0.001). Furthermore, in the haplotype analysis, we found that the haplotypes “C-G-G-A-C”, “C-G-A-G-T” and “T-A-G-G-T” of rs9376267-rs9376268-rs1327475-rs7749390-rs1327474 block were extremely decreased the PTB risk (P<0.01), however, the haplotypes “C-G-G-A-T”, “T-G-G-G-T” and “C-G-G-G-T” of the block were extremely increased the PTB risk (P<0.01). These results suggested that variants of IFNGR1 may have a close relation with the PTB risk in Chinese Tibetan population.
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