title: Evidence for normal vitamin D receptor messenger ribonucleic acid and genotype in absorptive hypercalciuria.
abstract: Absorptive hypercalciuria (a stone-forming condition) is characterized by gut hyperabsorption of calcium, hypercalciuria, and reduced bone density. Inasmuch as these features implicate enhanced calcitriol action in gut and bone, we analyzed the vitamin D receptor (VDR) gene to ascertain whether an abnormality of this gene marks patients with intestinal hyperabsorption of calcium. We have compared the frequency of a restriction fragment length polymorphism (Bsm I) associated with different alleles of the VDR gene in a group of 33 well characterized absorptive hypercalciuric patients and a group of 36 normal race- and age-matched control subjects. There was no difference between the distribution of the VDR alleles in the patient population when compared with the normal population. The coding region of VDR messenger RNA was also normal, as determined by both DNA sequence analysis and chemical mismatch cleavage analysis of copy DNA from 11 index absorptive hypercalciuric patients. On the basis of these results, we propose that the enhanced intestinal calcium absorption invariably seen in absorptive hypercalciuria and attendant symptoms of this disorder are not attributable to mutations of the VDR and are not linked to a common VDR genotype.
authors.affiliation: Center for Mineral Metabolism and Clinical Research, University of Texas, Southwestern Medical School, Dallas 75235-8885, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Zerwekh
authors.forename: M R
authors.initials: MR
authors.lastname: Hughes
authors.forename: B Y
authors.initials: BY
authors.lastname: Reed
authors.forename: N A
authors.initials: NA
authors.lastname: Breslau
authors.forename: H J
authors.initials: HJ
authors.lastname: Heller
authors.forename: M
authors.initials: M
authors.lastname: Lemke
authors.forename: I
authors.initials: I
authors.lastname: Nasonkin
authors.forename: C Y
authors.initials: CY
authors.lastname: Pak
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001706:Biopsy; D015519:Bone Density; D002117:Calcitriol / Q000097:blood; D002118:Calcium / Q000097:blood / Q000378:metabolism* / Q000652:urine*; D002478:Cells, Cultured; D003404:Creatinine / Q000652:urine; D015245:Deoxyribonuclease BamHI; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007408:Intestinal Absorption; D007962:Leukocytes / Q000378:metabolism; D008286:Malabsorption Syndromes / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D010281:Parathyroid Hormone / Q000097:blood; D010710:Phosphates / Q000097:blood; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017697:Premenopause; D012333:RNA, Messenger / Q000378:metabolism; D018167:Receptors, Calcitriol / Q000096:biosynthesis* / Q000235:genetics*; D012016:Reference Values; D012867:Skin / Q000378:metabolism / Q000473:pathology
chemical_list: D010281:Parathyroid Hormone; D010710:Phosphates; D012333:RNA, Messenger; D018167:Receptors, Calcitriol; D003404:Creatinine; D015245:Deoxyribonuclease BamHI; C053864:endodeoxyribonuclease BsmI; D015252:Deoxyribonucleases, Type II Site-Specific; D002117:Calcitriol; D002118:Calcium