AUTHOR=Ramírez-Bello Julian , Fragoso José M. , Alemán-Ávila Isidro , Jiménez-Morales Silvia , Campos-Parra Alma D. , Barbosa-Cobos Rosa Elda , Moreno José 

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

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00058

DOI=10.3389/fgene.2020.00058

ISSN=1664-8021

ABSTRACT=<sec><title>Introduction</title><p><italic>BLK</italic> 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, <italic>BANK1</italic> single nucleotide variants (SNVs) have been scarcely studied in RA patients.</p></sec><sec><title>Objective</title><p>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.</p></sec><sec><title>Materials and Methods</title><p>We studied 957 women; 487 controls and 470 patients with RA by means of a TaqMan® SNP genotyping assay with fluorescent probes for the <italic>BLK</italic> rs13277113A/G, rs2736340T/C and <italic>BANK1</italic> 10516487G/A (R61H) and rs3733197G/A (A383T) variants.</p></sec><sec><title>Result</title><p>The <italic>BLK</italic> rs2736340T/C and rs13277113A/G variants were associated with risk for RA: C vs T; OR 1.39, <italic>p</italic> = 0.001, and G vs A; OR 1.37, <italic>p</italic> = 0.004, respectively. In addition, there was also an association between <italic>BANK1</italic> R61H and RA: A vs G; OR 1.49, <italic>p</italic> = 0.003, but no with <italic>BANK1</italic> A383T. We also identified an interaction significant between genotypes of <italic>BLK</italic> rs2736340T/C-<italic>BANK1</italic> rs10516487G/A and RA: OR 1.65, <italic>p</italic> = 0.0001.</p></sec><sec><title>Conclusions</title><p>Our data suggest that both <italic>BLK</italic> and <italic>BANK1</italic> confer susceptibility to RA in Mexican patients. The individual association of <italic>BANK1</italic> 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 <italic>BANK1</italic> variant and RA.</p></sec>