Exp Clin Endocrinol Diabetes 2013; 121 - OP10_63
DOI: 10.1055/s-0033-1336672

FokI polymorphism of VDR and bone mineral density in patients with M. Gaucher

A Zimmermann 1, RA Popp 2, H Rossmann 3, C Al Khzouz 4, S Bucerzan 4, I Nascu 4, MM Weber 1, P Grigorescu Sido 4
  • 1Universitätsmedizin Mainz, I. Med. Clinic and Policlinic, Dept. of Endocrinology and Metabolic Diseases, Mainz, Germany
  • 2University of Medicine and Pharmacy Cluj, Medical Genetics, Cluj-Napoca, Romania
  • 3Universitätsmedizin Mainz, Institut für Klinische Chemie und Laboratoriumsmedizin, Mainz, Germany
  • 4University of Medicine and Pharmacy Cluj, 1. Pediatric Clinic, Center for Genetic Diseases, Cluj-Napoca, Romania

Introduction: Vit. D polymorphims have been implicated in bone mineral density. Patients with M. Gaucher suffer from bone disease/osteoporosis. We aimed to investigate the impact of the FokI polymorphism on bone mineral density (BMD) and bone metabolism in patients with M. Gaucher.

Patients, methods: 44 patients with M. Gaucher (16 M/28F). FokI polymorphism has been determined by RFLP in 44 patients and 121 healthy controls. BMD was measured in patients by DXA before and under enzyme replacement therapy (ERT), at least after two years. Serum-calcium, phosphorus, parathormone intact and 25-hydroxy-vitaminD were measured in patients.

Results: The distribution of alleles was: ff(8/44 – 18.1%), fF(23/44 – 52.2%), FF(13/44 – 29.5%) in patients and ff(16/121 – 13.2%), fF(53/121 – 43.8%), FF(52/121 – 42.9%) in controls. Even not statistically