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



Xavier JM1, 2 ; Shahram F3 ; Sousa I1, 2 ; Davatchi F3 ; Matos M1, 2 ; Abdollahi BS3 ; Sobral J1, 2 ; Nadji A3 ; Oliveira M4 ; Ghaderibarim F3 ; Shafiee NM3 ; Oliveira SA1, 2
Authors
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Authors Affiliations
  1. 1. Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Av Prof Egas Moniz, Edificio Egas Moniz, Lisboa, 1649-028, Portugal
  2. 2. Instituto Gulbenkian de Ciencia, Oeiras, Portugal
  3. 3. Rheumatology Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Centro de Investigacao Matematica e Aplicacoes - CIMA, Universidade de Evora, Evora, Portugal

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