The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition

Abstract

Background and Aim: Interferon-induced helicase (IFIH1) is a gene locus that has been recently defined as a candidate for susceptibility to generalized vitiligo (GV). The objectives of this study were to assess the association of IFIH1 gene, rs2111485 and rs1990760 single-nucleotide polymorphisms (SNP) with susceptibility to GV and the autoimmune diseases accompanying to GV. Materials and Methods: We prospectively studied GV patients and frequency-matched healthy controls by age and gender. The genotypes of the participants were determined for rs1990760 and rs2111485 SNPs of IFIH1. Dominant, recessive and additive models were evaluated for each SNP adjusted for age and gender. Results: The patients and their controls were demonstrated to be in the Hardy-Weinberg equilibrium for SNP1 (2q24.2, rs1990760, IFIH1, T/C) and SNP2 (2q24.2, rs2111485, IFIH1, G/A) respectively (all p> 0.7). For SNP1 every T allel addition was significantly associated with 1.53 times protectiveness in terms of vitiligo risk (P= 0.033). As for SNP2 every G allel addition was associated with 1.42 times protectiveness, close to statistical significance (P= 0.100). Conclusions: We detected that for SNP1 each T allel and for SNP2 each G allel are protective in terms of vitiligo development. Hereby, we confirmed that IFIH1 gene locus has a role in GV susceptibility. Keywords: Vitiligo, single nucleotide polymorphism, genes

Association Among MIF, IFIH1, and IL6 Gene Polymorphisms and Non-Segmental Vitiligo in a Chinese Han Population

“… 18 , 19 The second GWAS in non-Hispanic European population confirmed that IFIH1 rs1990760 and rs2111485 were susceptible loci of vitiligo, especially rs2111485. 40 Similar results have been reported by Onan et al 41 with reference to a Turkish population, further indicating that rs2111485 is a susceptible locus of vitiligo in Western populations. In the present study, rs3747517 (H843R), another SNP found in the IFIH1 gene, is a missense variant located at exon 13 of IFIH1 .…”

A novel intergenic variant linked to IFIH1 rs1990760 polymorphism, rs2111485, shows an association with susceptibility to coronavirus disease 2019 and influences IFIH1 protein levels.

“…This study also revealed that rs2111485 is another SNP of theIFIH1 gene that shows a significant association with susceptibility to COVID-19. This SNP has not been investigated to determine its role in risk of COVID-19, but in other inflammatory diseases, such as type 1 diabetes and vitiligo, rs2111485 has shown an association with risk of developing these diseases (Gootjes et al, 2022;Onan et al, 2019). Regarding viral infections, such as hepatitis B and C virus infections, rs2111485 has either shown an association with their progression or may have a role in viral clearance (Jiang et al, 2019;Yao et al, 2021).…”

“…The rs1990760 SNP is a missense variant and there is evidence to suggest that this SNP is in strong linkage disequilibrium (LD) with an intergenic variant located between the FAP (fibroblast activation protein alpha) and IFIH1 genes; it is rs2111485. Studies have revealed that rs2111485 is associated with susceptibility to type 1 diabetes, vitiligo, and hepatitis C virus infection (Gootjes et al, 2022;Jiang et al, 2019;Onan et al, 2019). In addition, a protective role of rs2111485 in spontaneous hepatitis B virus clearance has also been suggested (Yao et al, 2021).…”

Association of rs4711998 of IL-17A, rs2275913 of IL-17A and rs763780 IL-17F gene polymorphisms with vitiligo in a Mexican population

“…In our literature search, several polymorphisms were found: (1) NLRP-1 (rs2670660) [36], TNF-α (rs1800629) [27,[37][38][39], IL-4R (rs1801275) [40], CAT − 89 A/T (rs7943316), 389 C/T (rs769217), and 419 C/T (rs11032709) [41], LXR-α (rs11039155 and rs2279238) [42], PTPN22 (rs2476601) [43], TNFB (rs909253) [44], IFIH1 (rs1990760) [45], and MTHFR (rs1801131 and rs1801133) [46].…”