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

Maria Martinou; Hector Katifelis; Elias Gialafos; Kiril Todorov Atliev; Spiridon Papiris; Maria Gazouli

doi:10.5114/aoms/154019

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

Arch Med Sci. 2022 Oct 16;19(3):672-677. doi: 10.5114/aoms/154019. eCollection 2023.

Authors

Maria Martinou¹, Hector Katifelis¹, Elias Gialafos², Kiril Todorov Atliev³, Spiridon Papiris⁴, Maria Gazouli¹

Affiliations

¹ Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
² First Department of Neurology, Medical School, Aeginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
³ Department of Urology and General Medicine, Faculty of Medicine, Medical University of Plovdiv, Plovdiv, Bulgaria.
⁴ 2 Respiratory Medicine Department, "Attikon" University Hospital, Chaidari, Athens, Greece.

Abstract

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 (BAFF) and its receptor (BAFF-R) 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 BAFF rs2893321, rs1041569 and rs9514828, and for BAFF-R rs61756766.

Results: Out of the three BAFF 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 BAFF-R rs61756766. Haplotype analysis of the BAFF 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 BAFF SNPs, rs1041569 and rs9514828, and BAFF-R SNP rs61756766 with sarcoidosis susceptibility and their potential as biomarkers for the disease.

Keywords: BAFF; BAFF-R; rs1041569; rs2893321; rs61756766; rs9514828; sarcoidosis.