Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes

Scientific Reports
Sergio Burillo-SanzMaría Francisca González-Escribano

Abstract

Behçet's disease (BD) is an immune-mediated systemic disorder with a well-established genetic base. In a previous study, using a next generation sequencing approach, we found many rare variants and some functional polymorphisms in genes related to autoinflammatory syndromes (AID): CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A in our BD cohort. Our strategy did not allow us to establish either number of patients with variants, proportion of individuals accumulating them or relationship with other genetic factors. With the goal to answer these questions, the individual samples were sequenced. Additionally, three functional polymorphisms: NLRP3 p.Gln703Lys, NOD2 p.Arg702Trp and p.Val955Ile were genotyped using TaqMan assays. A total of 98 patients (27.6%) carried at least one rare variant and 13 of them (3.7%) accumulated two or three. Functional regression model analysis suggests epistatic interaction between B51 and MEFV (P = 0.003). A suggestive protective association of the minor allele of NOD2 p.Arg702Trp (P = 0.01) was found in both, B51 positive and negative individuals. Therefore, a high percentage of patients with BD have rare variants in AID genes. Our results suggest that the association of MEFV with BD could be m...Continue Reading

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Citations

Nov 17, 2020·Frontiers in Immunology·Sandro F PerazzioAlexandre W S de Souza
Jan 30, 2021·Scientific Reports·Hyung Jin HahnJong-Yeup Kim
Apr 8, 2021·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Javier Rodríguez-CarrioFabiola Atzeni
Jun 12, 2021·Nature Reviews. Rheumatology·Daniele MauroFrancesco Ciccia

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Methods Mentioned

BETA
PCR
genotyping

Software Mentioned

circlize R package
PLINK
bamtools
SKAT
HaploReg
R package FRGEpistasis
OptiType
fmsb
Epi
razerS3

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