title: TIM-1 rs41297579 G>A (-1454) and TIM-4 rs7700944 gene polymorphisms as possible risk factor for rheumatoid arthritis: relation to activity and severity.
abstract: This 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 were 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 (Pc  < 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 SNPs 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.
authors.affiliation: Clinical Immunology Unit, Clinical Pathology Department & Mansoura Research Center for Cord Stem Cells (MARC_CSC), Mansoura Faculty of Medicine, Mansoura University, Mansoura, Egypt.
authors.forename: Y M
authors.initials: YM
authors.lastname: Mosaad
authors.affiliation: Rheumatology and Rehabilitation Department, Mansoura University Hospital, Mansoura, Egypt.
authors.forename: S R
authors.initials: SR
authors.lastname: El-Bassiony
authors.affiliation: Rheumatology and Rehabilitation Department, Mansoura University Hospital, Mansoura, Egypt.
authors.forename: A E
authors.initials: AE
authors.lastname: El-Ghaweet
authors.affiliation: Rheumatology and Rehabilitation Department, Mansoura University Hospital, Mansoura, Egypt.
authors.forename: M M
authors.initials: MM
authors.lastname: Elhindawy
authors.affiliation: Community Medicine and Statistics Department, Mansoura Faculty of Medicine, Mansoura, Egypt.|Research Unit, Faculty of Medicine, King Abdul-Aziz University, Jeddah, Saudi Arabia.
authors.forename: B S
authors.initials: BS
authors.lastname: El-Deek
authors.affiliation: Rheumatology and Rehabilitation Department, Mansoura University Hospital, Mansoura, Egypt.
authors.forename: W A
authors.initials: WA
authors.lastname: Sultan
mesh_terms: D000328:Adult; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000473:pathology; D004534:Egypt; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D000072596:Hepatitis A Virus Cellular Receptor 1; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011991:Receptors, Virus / Q000235:genetics*; D012307:Risk Factors
chemical_list: C491143:HAVCR1 protein, human; D000072596:Hepatitis A Virus Cellular Receptor 1; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D011991:Receptors, Virus; C512411:TIMD4 protein, human