title: Vitamin D receptor TaqI and ApaI polymorphisms: a comparative study in patients with Behçet's disease and Rheumatoid arthritis in Tunisian population.
abstract: Recent genetic surveys have identified vitamin D receptor (VDR) as a susceptibility gene for several autoimmune diseases. This study was designed to investigate the association of VDR gene polymorphisms with Behçet's disease (BD) and Rheumatoid arthritis (RA). A case-control study including 151 BD, 106 RA patients and an appropriate number of healthy control subjects were performed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques. Association between TaqI polymorphism and BD was marginal under codominant and recessive models (P=0.078 and P=0.058, respectively). After stratification, we found evidence for a significant association between TaqI polymorphism and BD in the elderly subjects (P=0.037). The minor ApaI a allele tended to confer an increased risk for BD susceptibility (P=0.087). BD patients with VDR homozygous AA or aa genotypes were at increased risk for development of erythema nodosum (EN) skin manifestation (P=0.038). No significant association was observed for VDR ApaI and TaqI polymorphisms with RA risk (P>0.05). TaqI and ApaI polymorphisms might be modestly implicated in BD pathogenesis. They could be considered as potential biomarkers in BD rather than susceptibility genes. However, TaqI and ApaI seemed not to be implicated in RA pathogenesis.
authors.affiliation: Tunis El Manar University, Medicine Faculty of Tunis, Division of Histology and Immunology, Department of Basic Sciences, 15 Rue Djebel Lakdar, 1007 Tunis, Tunisia. Electronic address: kalthoum.tizaoui@yahoo.com.
authors.forename: Kalthoum
authors.initials: K
authors.lastname: Tizaoui
authors.affiliation: Tunis El Manar University, Medicine Faculty of Tunis, Division of Histology and Immunology, Department of Basic Sciences, 15 Rue Djebel Lakdar, 1007 Tunis, Tunisia.
authors.forename: Wajih
authors.initials: W
authors.lastname: Kaabachi
authors.affiliation: Tunis El Manar University, Medicine Faculty of Tunis, Division of Histology and Immunology, Department of Basic Sciences, 15 Rue Djebel Lakdar, 1007 Tunis, Tunisia.
authors.forename: Marwa
authors.initials: M
authors.lastname: Ouled Salah
authors.affiliation: Tunis El Manar University, Medicine Faculty of Tunis, Division of Histology and Immunology, Department of Basic Sciences, 15 Rue Djebel Lakdar, 1007 Tunis, Tunisia.
authors.forename: Amira
authors.initials: A
authors.lastname: Ben Amor
authors.affiliation: Tunis El Manar University, Medicine Faculty of Tunis, Division of Histology and Immunology, Department of Basic Sciences, 15 Rue Djebel Lakdar, 1007 Tunis, Tunisia; Abdurrahman Mami Hospital, Pneumology Service and Tunis El Manar University, Tunisia.
authors.forename: Agnès
authors.initials: A
authors.lastname: Hamzaoui
authors.affiliation: Tunis El Manar University, Medicine Faculty of Tunis, Division of Histology and Immunology, Department of Basic Sciences, 15 Rue Djebel Lakdar, 1007 Tunis, Tunisia.
authors.forename: Kamel
authors.initials: K
authors.lastname: Hamzaoui
mesh_terms: D000328:Adult; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D001528:Behcet Syndrome / Q000235:genetics*; D016022:Case-Control Studies; D015252:Deoxyribonucleases, Type II Site-Specific; D004893:Erythema Nodosum / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012306:Risk; D014416:Tunisia; D014807:Vitamin D / Q000031:analogs & derivatives / Q000097:blood
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human; D014807:Vitamin D; C104450:25-hydroxyvitamin D; D015252:Deoxyribonucleases, Type II Site-Specific; C038485:GGGCCC-specific type II deoxyribonucleases; C027046:TCGA-specific type II deoxyribonucleases
keywords: Behçet’s disease; Rheumatoid arthritis; VDR gene polymorphism; Vitamin D