A significant implication of intronic SNP (rs11246213) of IRF7 gene with disease susceptibility in Kashmiri (North-Indian) patients with Systemic Sclerosis

GENE REPORTS(2023)

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摘要
•A significantly higher genotypic distribution of the AG genotype in SSc cases as compared to controls (OR=3.75, CI=2.01-7.02; p-value <.0001).•Significant increase in the frequency of the AG genotype in SSc patients with vascular, and pulmonary manifestation.•Minor allele G frequency of rs11246213 was higher in dc SSc than those of lc SSc subtype.•Significant association of IRF7 genomic region with autoantibodies particularly anti-centromere antibody and anti-topo Isomerase antibody.
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关键词
Systemic sclerosis, Autoantibodies, Interferon regulatory factor 7, PCR-RFLP, Clinical Manifestations
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