Association of BAFF and BAFF-R polymorphisms with sarcoidosis in a Greek patient cohort

Abstract

IntroductionSarcoidosis is a disease that results from a combination of environmental and genetic factors. Its genetic basis however, is yet to be clarified. The purpose of this study is to determine whether single nucleotide polymorphisms (SNPs) of the B- cell activating factor (BAFF) and its receptor (BAFF-R) are associated with sarcoidosis.Material and methodsIn the present study 173 with sarcoidosis (42 with cardiac involvement and 131 with pulmonary sarcoidosis) of Greek origin were enrolled. Sarcoidosis diagnosis was set based on clinical and radiological criteria and after excluding other possible causes of granulomatosis in transbronchial biopsies with evidence of noncaseating granulomatosis . All samples were genotyped for the BAFF rs2893321, rs1041569 and rs9514828, and for the BAFF-R rs61756766.ResultsOut of the three BAFF polymorphisms, no genotype had significant association with sarcoidosis, although the T allele in rs1041569 and rs9514828 was over-represented in sarcoidosis patients. A marginally significant association with sarcoidosis was found in the case of the CT genotype and T allele of BAFF-R rs61756766. Haplotype analysis of the BAFF polymorphisms was also performed, revealing an over-representation of the ATT, GTA and GTT haplotypes in the group of patients with cardiac involvement.ConclusionsTaken together, the results of this study suggest a possible relationship between BAFF SNPs, rs1041569 and rs9514828, and BAFF-R SNP rs61756766 with sarcoidosis susceptibility and the potential of those as biomarkers for the disease.