Lack of Association of the PLD4 SNP rs2841277 With Systemic Sclerosis in a US Caucasian population

Abstract Objective This study aimed to examine whether a reported SSc-associated SNP rs2841277 in the PLD4 gene identified in an Asian population was also associated with SSc in US Caucasians. Methods The US Caucasian cohort consisting of 1005 SSc patients and 961 healthy controls was examined in this study. TaqMan genotyping assays were performed to examine the SNP. Exact p-values were obtained from 2x2 tables of allele counts and disease status. Results In contrast to the previous reports in a Japanese population, SSc patients of US Caucasian ancestry did not show an association of PLD4 rs2841277 with SSc in general (P=0.231, OR=0.89), or with clinical subtypes of lcSSc (P=0.302, OR=0.86) and dcSSc (P=0.369, OR=0.90), or with autoantibody subtypes including ATA(P=0.126, OR=0.74), ACA(P=0.943, OR=1.01), ARP3(P=0.155, OR=0.77), or Anti-RNP(P=0.660, OR=0.73). Conclusion We found a lack of association of the PLD4 SNP rs2841277 with SSc in a US Caucasian population. This is the first study to report a discrepancy in the genetic association between the PLD4 SNP and SSc. This could be explained by genetic heterogeneity between Asian and Caucasian populations, suggesting that the previously reported association of the PLD4 polymorphism may be ethnic specific, and further verification in different ethnic populations is warranted.