title: Association Between Vitamin D Receptor Polymorphism and Familial Mediterranean Fever Disease in Turkish Children.
abstract: Familial Mediterranean fever (FMF) is an autosomal recessive, inherited autoinflammatory disease characterized by recurrent, self-limited attacks of fever, and inflammation of serosal surfaces. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of children with FMF. We investigated VDR FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms in 50 children with FMF and 150 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism. There was no significant difference between patients and controls for VDR FokI, TaqI, BsmI, and ApaI genotypes and alleles (p > 0.05). Results need to be supported by further investigations that define haplotype patterns for VDR gene polymorphisms in a larger group and different ethnic groups of FMF patients.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, 35340, Balcova, Izmir, Turkey. sefa.kizildag@deu.edu.tr.
authors.forename: S
authors.initials: S
authors.lastname: Kizildag
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, 35340, Balcova, Izmir, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Dedemoglu
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Anik
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Catli
authors.affiliation: Vocational School of Health Sciences, Dokuz Eylül University, 35340, Balcova, Izmir, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Kizildag
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Abaci
authors.affiliation: Division of Rheumatology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Makay
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Bober
authors.affiliation: Division of Rheumatology, Department of Pediatrics, Dokuz Eylül University Hospital, 35340, Balcova, Izmir, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Unsal
mesh_terms: D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D018167:Receptors, Calcitriol / Q000235:genetics*; D012306:Risk; D014421:Turkey / Q000453:epidemiology
chemical_list: D018167:Receptors, Calcitriol; C579457:VDR protein, human
keywords: Familial Mediterranean fever; VDR polymorphisms; Vitamin D receptor