Fut2: Filling the Gap Between Genes and Environment in Behcet's Disease? Publisher Pubmed



Xavier JM^{1, 2} ; Shahram F³ ; Sousa I^{1, 2} ; Davatchi F³ ; Matos M^{1, 2} ; Abdollahi BS³ ; Sobral J^{1, 2} ; Nadji A³ ; Oliveira M⁴ ; Ghaderibarim F³ ; Shafiee NM³ ; Oliveira SA^{1, 2}
Source: Annals of the Rheumatic Diseases Published:2015

Abstract

Objectives: To identify new susceptibility loci for Behcet'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 FUT2 in the full Iranian dataset showed additional associations in five coding SNPs (2.97E-06