BAFF, APRIL and BAFF-R in the pathogenesis of sarcoidosis

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Specialty Molecular Biomedicine Mechanisms of Disease, Molecular and Cellular Therapies, and Bioinnovation
Library of the School of Health Sciences
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Martinou Maria
Supervisors info:
Μαρία Γαζούλη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Μαρία Ρουμπελάκη, Αναπληρώτρια Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Γεώργιος Καραμανώλης, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Original Title:
BAFF, APRIL and BAFF-R in the pathogenesis of sarcoidosis
Translated title:
BAFF, APRIL and BAFF-R in the pathogenesis of sarcoidosis
Sarcoidosis is a rare, inflammatory disease, with no know etiology up to date.
It is believed to be caused by a combination of genetic and environmental factors, none
of which however, have been yet completely elucidated. Although, it has been
considered a disease mediated by cellular immunity, lately evidence shows that
humoral immunity may also have a role in its development. Thus, the purpose of this
study is to determine whether single nucleotide polymorphisms (SNPs) of 3 humoral
immunity genes, BAFF, BAFF-R and APRIL, are associated with sarcoidosis.
One hundred and seventy-three blood samples from sarcoidosis patients as well
as one hundred and sixty-four blood samples from a control group were collected. The
samples were genotyped for the following polymorphisms: BAFF rs2893321,
rs1041569 and rs9514828, BAFF-R rs61756766, and APRIL rs11552708.
Genotypic frequency comparison showed no significant association of the
BAFF SNPs with sarcoidosis; a higher frequency of the T allele of rs1041569 and
rs9514828 however, was indicated in sarcoidosis patients. In the case of BAFF-R
rs61756766 the CT genotype and T allele had a marginally significant association with
the disease. The genotypic and allelic frequencies of APRIL rs11552708 were not
calculated, due to insufficient data. Patients were also separated in groups of cardiac
and no cardiac involvement, but no associations could be deduced. Lastly, when
haplotype analysis of the BAFF polymorphisms was performed, 3 haplotypes (ATT,
GTA, and GTT) were found to be over-represented in the group of patients with cardiac
In conclusion, a possible relationship between BAFF SNPs, rs1041569 and
rs9514828, and BAFF-R SNP rs61756766 with sarcoidosis susceptibility is suggested
by the results, and these SNPs could serve as potential biomarkers for the disease .
Main subject category:
Health Sciences
BAFF, BAFF-R, APRIL, Sarcoidosis
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