Authors
Joana M Xavier, Farhad Shahram, Inês Sousa, Fereydoun Davatchi, Mafalda Matos, Bahar Sadeghi Abdollahi, João Sobral, Abdolhadi Nadji, Manuela Oliveira, Fahmida Ghaderibarim, Niloofar Mojarad Shafiee, Sofia A Oliveira
Publication date
2015/3/1
Journal
Annals of the rheumatic diseases
Volume
74
Issue
3
Pages
618-624
Publisher
BMJ Publishing Group Ltd
Description
Objectives
To identify new susceptibility loci for Behçet's disease (BD), we performed a genome-wide association study (GWAS) using DNA pooling.
Methods
Two replicate pools of 292 Iranian BD cases and of 294 age- and sex-matched controls were allelotyped in quadruplicate on the Affymetrix Genome-Wide Human SNP Array 6.0. Of the 51 top markers, 47 were technically validated through individually genotyping. Replication of validated single nucleotide polymorphisms (SNPs) was performed in an independent Iranian dataset (684 cases and 532 controls).
Results
In addition to the well-established HLA-B locus, rs7528842 in a gene desert on chromosome 1p21.2, and rs632111 at the 3′UTR of FUT2 were associated in both the discovery and replication datasets (individually and in combination). However, only the FUT2 SNP was associated in a previous GWAS for BD in Turkish people. Fine-mapping of …
Scholar articles
JM Xavier, F Shahram, I Sousa, F Davatchi, M Matos… - Annals of the rheumatic diseases, 2015