Association of and polymorphisms with sarcoidosis in a Greek patient cohort.

Introduction: Sarcoidosis 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 () and its receptor () are associated with sarcoidosis.

Material And Methods: Blood samples from one hundred and seventy-three sarcoidosis patients and one hundred and sixty-four controls were collected. All samples were genotyped for rs2893321, rs1041569 and rs9514828, and for rs61756766.

Results: Out of the three polymorphisms, none genotype had any significant association with sarcoidosis, although the T allele in rs1041569 and rs9514828 was overrepresented in sarcoidosis patients. A marginally significant association with sarcoidosis was found in the case of the CT genotype and T allele of rs61756766. Haplotype analysis of the polymorphisms was also performed, revealing an overrepresentation of the ATT, GTA and GTT haplotypes in the group of patients with cardiac involvement.

Conclusions: Taken together, the results of this study suggest a possible relationship between SNPs, rs1041569 and rs9514828, and SNP rs61756766 with sarcoidosis susceptibility and their potential as biomarkers for the disease.