Abstract
Introduction BLK 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, BANK1 single nucleotide variants (SNVs) have been scarcely studied in RA patients.ObjectiveThe 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.Materials and MethodsWe studied 957 women; 487 controls and 470 patients with RA by means of a TaqMan® SNP genotyping assay with fluorescent probes for the BLK rs13277113A/G, rs2736340T/C and BANK1 10516487G/A (R61H) and rs3733197G/A (A383T) variants.ResultThe BLK rs2736340T/C and rs13277113A/G variants were associated with risk for RA: C vs T; OR 1.39, p = 0.001, and G vs A; OR 1.37, p = 0.004, respectively. In addition, there was also an association between BANK1 R61H and RA: A vs G; OR 1.49, p = 0.003, but no with BANK1 A383T. We also identified an interaction significant between genotypes of BLK rs2736340T/C-BANK1 rs10516487G/A and RA: OR 1.65, p = 0.0001.ConclusionsOur data suggest that both BLK and BANK1 confer susceptibility to RA in Mexican patients. The individual association of BANK1 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 BANK1 variant and RA.
Highlights
BLK has been identified as a risk factor to rheumatoid arthritis (RA) primarily in Asian or European-derived populations
The BLK and BANK1 genotypes were in Hardy-Weinberg equilibrium (HWE) both in patients with RA and controls, except for BANK1 rs3733197G/A in controls, which had a weak deviation from HWE (p = 0.02)
We identified an association of BLK rs13277113A/G with RA under the recessive, and codominant models but not under the dominant model (Table 1)
Summary
BLK has been identified as a risk factor to rheumatoid arthritis (RA) primarily in Asian or European-derived populations. The BANK1 gene, which was identified as an important risk factor for systemic lupus erythematosus (SLE) (Kozyrev et al, 2008), does not appear to be associated with RA through GWA (Gregersen et al, 2009; Freudenberg et al, 2011; Jiang et al, 2014; Orozco et al, 2014; Bossini-Castillo et al, 2015; Julià et al, 2016; Saxena et al, 2017) or candidate gene studies (Suarez-Gestal et al, 2009; Orozco et al, 2011; Génin et al, 2013; Huang et al, 2017), except for the BANK1 rs3733197G/A (Ala383Thr; non-synonymous polymorphism) SNV, which showed an association with RA in Spanish and Argentine patients (Orozco et al, 2009)
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