Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population

• Published in: Frontiers in genetics Vol. 11; p. 58
• Main Authors: Ramírez-Bello, Julian, Fragoso, José M, Alemán-Ávila, Isidro, Jiménez-Morales, Silvia, Campos-Parra, Alma D, Barbosa-Cobos, Rosa Elda, Moreno, José
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 20.02.2020
• Subjects: association; gene interaction; Genetics; rheumatoid arthritis; single nucleotide variants; susceptibility; association; gene interaction; single nucleotide variants; susceptibility; rheumatoid arthritis
• ISSN: 1664-8021; 1664-8021
• DOI: 10.3389/fgene.2020.00058

has been identified as a risk factor to rheumatoid arthritis (RA) primarily in Asian or European-derived populations. However, this finding has not been evaluated in other populations such as Latin-Americans, except for Colombians. On the other hand, single nucleotide variants (SNVs) have been scarcely studied in RA patients. The aim of this study was to determine whether the BLK rs2736340T/C, rs13277113A/G, and BANK1 rs10516487G/A (R61H) and rs3733197G/A (A383T) polymorphisms are risk factors to RA in a sample of patients from Central Mexico. We studied 957 women; 487 controls and 470 patients with RA by means of a TaqMan® SNP genotyping assay with fluorescent probes for the rs13277113A/G, rs2736340T/C and 10516487G/A (R61H) and rs3733197G/A (A383T) variants. The rs2736340T/C and rs13277113A/G variants were associated with risk for RA: C vs T; OR 1.39, = 0.001, and G vs A; OR 1.37, = 0.004, respectively. In addition, there was also an association between R61H and RA: A vs G; OR 1.49, = 0.003, but no with A383T. We also identified an interaction significant between genotypes of rs2736340T/C- rs10516487G/A and RA: OR 1.65, = 0.0001. Our data suggest that both and confer susceptibility to RA in Mexican patients. The individual association of rs1054857G/A with RA had not been previously reported in a particular population (except for pooled patients from several countries), therefore, our study presents the first evidence of association between this variant and RA.