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MTOR gene polymorphism may be associated with microscopic polyangiitis susceptibility in a Guangxi population of
Jingjing Lan1, Yan Zhu2, Jinlan Rao1
1Department of Nephrology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, P.R. China.
Objective:
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.
Methods:
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.
Results:
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).
Conclusion:
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.
Insights
Genetic variations in the MTOR gene, specifically the rs2295080 polymorphism, are linked to microscopic polyangiitis (MPA) susceptibility. The G allele appears to offer a protective effect against MPA in the Guangxi population of China.
Area of Science:
- Genetics
- Immunology
- Molecular Biology
Background:
- Microscopic polyangiitis (MPA) onset is influenced by genetic factors and autophagy.
- The MTOR gene plays a crucial role in regulating autophagy, a process implicated in antineutrophil cytoplasmic antibody-associated vasculitis.
Purpose of the Study:
- To investigate the association between MTOR gene polymorphisms and susceptibility to MPA.
- To analyze specific single nucleotide polymorphism (SNP) loci within the MTOR gene in a Chinese population from Guangxi.
Main Methods:
- A case-control study involving 208 MPA patients and 209 healthy controls from Guangxi.
- Genotyping of four MTOR SNPs (rs3806317, rs1064261, rs1883965, rs2295080) using multiplex PCR and high-throughput sequencing.
- Subgroup analyses by gender and ethnicity, linkage disequilibrium, haplotype, and multi-SNP interaction analyses were performed.
Main Results:
- The rs2295080 GG genotype was associated with decreased MPA susceptibility (OR=0.38, p=0.040), particularly in females and the Han population.
- Carrying the G allele at rs2295080 also decreased MPA susceptibility in the Han population (OR=0.65, p=0.036).
- The AAT haplotype correlated with increased MPA susceptibility (OR=1.347, p=0.046), and a six-locus model showed significant multi-SNP interactions (p<0.05).
Conclusions:
- MTOR gene rs2295080 polymorphism is associated with MPA susceptibility in the Guangxi population.
- The G allele of rs2295080 may act as a protective factor against MPA development.
