title: Association of VDR ApaI and TaqI Gene Polymorphisms with the Risk of Scleroderma and Behçet's Disease.
abstract: Vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms have been reported in autoimmune diseases. However, their role in Behçet's disease (BD) and scleroderma remains inconclusive. Our aim was to evaluate vitamin D receptor (ApaI, TaqI) gene polymorphisms in relation to Behçet's disease and scleroderma in Egyptians. The study was conducted on 54 patients with BD, 30 scleroderma patients, and 60 healthy control subjects. VDR (ApaI, TaqI) gene polymorphisms were investigated using polymerase chain reaction-restriction fragment length polymorphism technique. The "a" allele of ApaI (A/a) polymorphism was significantly associated with increased BD risk (OR = 2.09, 95% CI = 1.18-3.71, p = 0.011), while the TaqI "tt" genotype was significantly lower in BD patients as compared to control subjects (OR = 0.35, 95% CI = 0.13-0.9, p = 0.026). Carriage of "aT" VDR haplotype was significantly associated with higher BD risk (OR = 2.28, 95% = 1.14-4.56, p = 0.022). In conclusion, our findings suggest that VDR gene polymorphisms have a significant association with BD in Egyptian patients.
authors.affiliation: a Department of Clinical & Chemical Pathology, Faculty of Medicine , Cairo University , Cairo , Egypt.
authors.forename: Asmaa
authors.initials: A
authors.lastname: Kamal
authors.affiliation: b Department of Rheumatology and Rehabilitation, Faculty of Medicine , Cairo University , Cairo , Egypt.
authors.forename: Sherif M
authors.initials: SM
authors.lastname: Gamal
authors.affiliation: b Department of Rheumatology and Rehabilitation, Faculty of Medicine , Cairo University , Cairo , Egypt.
authors.forename: Fatema T
authors.initials: FT
authors.lastname: Elgengehy
authors.affiliation: c Internal Medicine Department, Faculty of Medicine , Cairo University , Cairo , Egypt.
authors.forename: Alkhateeb K
authors.initials: AK
authors.lastname: Alkemary
authors.affiliation: d Internal Medicine Department , National Research Center , Cairo , Egypt.
authors.forename: Ibrahem
authors.initials: I
authors.lastname: Siam
mesh_terms: D000328:Adult; D000483:Alleles; D001528:Behcet Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D015252:Deoxyribonucleases, Type II Site-Specific / Q000737:chemistry; D004534:Egypt; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D018167:Receptors, Calcitriol / Q000235:genetics*; D012306:Risk; D012595:Scleroderma, Systemic / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human; D015252:Deoxyribonucleases, Type II Site-Specific; C038485:GGGCCC-specific type II deoxyribonucleases; C027046:TCGA-specific type II deoxyribonucleases
keywords: Behçet’s disease; VDR; gene polymorphism; scleroderma