1. MTOR gene polymorphism may be associated with microscopic polyangiitis susceptibility in a Guangxi population of China.
- Author
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Lan, Jingjing, Zhu, Yan, Rao, Jinlan, Liu, Liu, Gong, Aimei, Feng, Fei, Chen, Bingfang, Huang, Junxia, Zhang, Yurong, Chu, Liepeng, Zhong, Huan, Li, Lizhen, Yan, Jinlian, Li, Wei, and Xue, Chao
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MICROSCOPIC polyangiitis , *SINGLE nucleotide polymorphisms , *GENETIC polymorphisms , *LINKAGE disequilibrium , *HAPLOTYPES , *POLYMERASE chain reaction ,POPULATION of China - Abstract
• Rs2295080 polymorphism of MTOR gene may be associated with MPA susceptibility in a Guangxi population of China and G allele might be an important protective factor. • The haplotype AAT was correlated with increasing susceptibility of MPA. • The six-locus model was identified as the best interaction model. Microscopic polyangiitis (MPA) onset is affected by genetic predisposition. Autophagy plays a certain role in antineutrophil cytoplasmic antibody-associated vasculitis developing. A key factor in autophagy regulating, the genetic polymorphism of MTOR gene is essential. The objective was to explore the associations between MTOR gene polymorphism and MPA susceptibility in a Guangxi population of China. A sum of 208 MPA cases and 209 healthy volunteers from Guangxi in this case-control study, four important single nucleotide polymorphism (SNP) loci of MTOR gene including rs3806317, rs1064261, rs1883965 and rs2295080 were examined. Multiplex polymerase chain reaction combined with high-throughput sequencing was performed. Subgroup analysis was evaluated by gender and ethnicity. Linkage disequilibrium and haplotype analysis were tested. Multi-SNPs interaction among mTOR signaling pathway was assessed. For rs2295080, homozygous mutant GG genotype was associated with a decreased susceptibility of MPA in recessive model (OR = 0.38, 95%CI: 0.14–1.00, p = 0.040), particularly in the subgroup of female (OR = 0.16, 95%CI: 0.03–0.74, p = 0.006) and Han population (OR = 0.32, 95%CI: 0.10–1.00, p = 0.034). Individual carrying G allele was linked with decreasing MPA susceptibility in Han population of Guangxi (OR = 0.65, 95%CI: 0.44–0.97, p = 0.036). In haplotype analysis, the haplotype AAT was correlated with increasing susceptibility of MPA (OR = 1.347, 95%CI: 1.004–1.807, p = 0.046). Moreover, in the multi-SNPs interaction analysis, the six-locus model was identified as the best interaction model (p < 0.05). These findings suggest that rs2295080 polymorphism of MTOR gene may be associated with MPA susceptibility in a Guangxi population of China and G allele might be an important protective factor. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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