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TIM ‐1 rs41297579 G>A ( −1454 ) and TIM ‐4 rs7700944 gene polymorphisms as possible risk factor for rheumatoid arthritis: relation to activity and severity
Author(s) -
Mosaad Y. M.,
Elbassiony S. R.,
ElGhaweet A. E.,
Elhindawy M. M.,
ELDeek B. S.,
Sultan W. A.
Publication year - 2015
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/iji.12201
Subject(s) - rheumatoid arthritis , haplotype , genotype , cohort , medicine , allele , snp , gastroenterology , rheumatoid factor , immunology , risk factor , single nucleotide polymorphism , genetics , gene , biology
Summary T his study was aimed to evaluate the impact of both TIM ‐1 rs41297579 G>A ( −1454 ) and TIM ‐4 rs7700944 polymorphisms on susceptibility to rheumatoid arthritis ( RA ) in a cohort of Egyptian population and to evaluate for the first time their relation to activity, severity, disease‐related disability and erosion. TIM ‐1 rs41297579 G>A ( −1454 ) and TIM ‐4 rs7700944 gene polymorphisms w ere typed by RFLP for 128 patients with RA and 125 healthy controls. The A allele, A ‐containing genotypes ( GA and AA ) of the TIM ‐4 and GA haplotype were present with significant higher frequency in patients with RA than healthy controls ( P c < 0.001). These findings suggest that the A allele, A ‐containing genotypes ( GA and AA ) and GA haplotype may be a susceptibility risk factor for RA [ OR = 5.83 (3.6–9.4), OR = 9.41 (5.0–17.6) and OR = 4.21 (1.07–19.2), respectively]. No associations were found between TIM genotypes and disease activity, severity or presence of erosion. However, the RA patients with GA genotype of TIM ‐4 have higher grade of rheumatoid factor ( RF ) positivity ( P = 0.018), and have worse disease‐related disability ( P = 0.007) and worse pain (0.025). TIM ‐4 rs7700944 and not TIM ‐1 rs41297579 G>A ( −1454 ) is associated with RA in the present cohort of Egyptian and may be a risk factor for development of RA in Egyptian. Both SNP s have no effect on disease activity, severity or erosion. However, TIM ‐4 GA genotype is associated with higher grade of RF positivity and worse disease‐related disability and pain.