Although recent studies detected association of a single nucleotide polymorphism (SNP) rs4963128 in PHD and ring finger domains 1 (PHRF1)/KIAA1542, located closely to IRF7, and IRF7 rs1131665 (glutamine (Gln) 412 arginine (Arg)) with systemic lupus erythematosus (SLE), causal variants have not been established.
These findings show that the major allele of a nonsynonymous SNP, rs1131665 (412Q) in IRF7, confers elevated activation of IRF-7 and predisposes to the development of SLE in multiple ethnic groups.
Polymorphisms in PYHIN1-IFI16-AIM2 rs1633256, rs1101998 and in IRF7 rs11246213 were associated with altered susceptibility to Mtb infection in this Brazilian cohort.
Our results showed that the AG genotype and the minor allele G frequency of rs1131665 and rs1061502 in AITD patients were both higher than those of the controls (rs1131665: AG genotype: <i>P</i> = 0.017, OR = 1.968; allele G: <i>P</i> = 0.018, OR = 1.946; rs1061502: AG genotype: <i>P</i> = 0.029, OR = 1.866; allele G: <i>P</i> = 0.031, OR = 1.847).
Subgroup analysis also showed that the AG genotype and the minor allele G frequency of rs1131665 and rs1061502 in Graves' disease patients were both higher than those of the controls (rs1131665: AG genotype: <i>P</i> = 0.015, OR = 2.074; allele G: <i>P</i> = 0.016, OR = 2.048; rs1061502: AG genotype: <i>P</i> = 0.034, OR = 1.919; allele G: <i>P</i> = 0.035, OR = 1.898).
Subgroup analysis also showed that the AG genotype and the minor allele G frequency of rs1131665 and rs1061502 in Graves' disease patients were both higher than those of the controls (rs1131665: AG genotype: <i>P</i> = 0.015, OR = 2.074; allele G: <i>P</i> = 0.016, OR = 2.048; rs1061502: AG genotype: <i>P</i> = 0.034, OR = 1.919; allele G: <i>P</i> = 0.035, OR = 1.898).
Our results showed that the AG genotype and the minor allele G frequency of rs1131665 and rs1061502 in AITD patients were both higher than those of the controls (rs1131665: AG genotype: <i>P</i> = 0.017, OR = 1.968; allele G: <i>P</i> = 0.018, OR = 1.946; rs1061502: AG genotype: <i>P</i> = 0.029, OR = 1.866; allele G: <i>P</i> = 0.031, OR = 1.847).
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in <i>PHGDH</i>, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency.
These data are consistent in children with low IRF7 expression in the blood: attenuating IRF7 promoter polymorphisms (rs3758650-T and rs10902179-G) negatively associated with recurrent pyelonephritis.
These data are consistent in children with low IRF7 expression in the blood: attenuating IRF7 promoter polymorphisms (rs3758650-T and rs10902179-G) negatively associated with recurrent pyelonephritis.
Four out of five analysed SNPs were significantly associated with the presence of anticentromere autoantibodies (ACA) in the patients with SSc in the combined analysis (rs1131665: p(FDR)=6.14 × 10(-4), OR=0.78; rs4963128: p(FDR)=6.14 × 10(-4), OR=0.79; rs702966: p(FDR)=3.83 × 10(-3), OR=0.82; and rs2246614: p(FDR)=3.83 × 10(-3), OR=0.83).
The IRF7 SNP rs1061501 TT genotype and T allele are enriched in Taiwanese patients with SLE and thus would seem to be associated with an increased risk of developing SLE.