title: Lack of association between vitamin D receptor gene polymorphism (BsmI) and osteomalacia.
abstract: Vitamin D receptor (VDR) gene polymorphism has been reported to be a determinant of bone formation and intestinal calcium absorption. We carried out this study to assess the role of VDR gene polymorphism in the pathogenesis of osteomalacia. We investigated BsmI polymorphisms in the gene encoding the 1,25 dihydroxyvitamin D receptor in 38 patients with osteomalacia and 31 healthy controls, along with examination of serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, and 25 hydroxyvitamin D levels. VDR allelic variants were: BB, 31.6%; Bb, 44.7%; and bb, 23.7% in the osteomalacia patients and BB, 19.4%; Bb, 61.3%; and bb, 19.4% in the controls. Although heterozygotes (Bb) were more frequent than other genotypes in both groups, the BB genotype was found to be more prevalent in osteomalacia than in controls. There was no statistical relationship between VDR genotype and osteomalacia. It is concluded that, in this small group of patients, there was no relationship between VDR allelic polymorphisms and osteomalacia.
authors.affiliation: Department of Internal Medicine, Division of Endocrinology, Metabolism and Nutrition, Istanbul University, Istanbul Faculty of Medicine, Turkey.
authors.forename: Hakki
authors.initials: H
authors.lastname: Kahraman
authors.forename: Belgin Süsleyici
authors.initials: BS
authors.lastname: Duman
authors.forename: Faruk
authors.initials: F
authors.lastname: Alagöl
authors.forename: Refik
authors.initials: R
authors.lastname: Tanakol
authors.forename: Selma
authors.initials: S
authors.lastname: Yilmazer
mesh_terms: D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D002118:Calcium / Q000097:blood; D003627:Data Interpretation, Statistical; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010018:Osteomalacia / Q000097:blood / Q000235:genetics*; D010281:Parathyroid Hormone / Q000097:blood; D010758:Phosphorus / Q000097:blood; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D015183:Restriction Mapping; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000097:blood
chemical_list: D010281:Parathyroid Hormone; D018167:Receptors, Calcitriol; D014807:Vitamin D; D010758:Phosphorus; C104450:25-hydroxyvitamin D; C053864:endodeoxyribonuclease BsmI; D015252:Deoxyribonucleases, Type II Site-Specific; D000469:Alkaline Phosphatase; D002118:Calcium