Journal of Osteoporosis and Physical Activity
Open Access
ISSN: 2329-9509
+44 1478 350008
ISSN: 2329-9509
+44 1478 350008
Altarescu G
Medical Genetics Institute, Shaare Zedek Medical Center,
Jerusalem
Israel
Research Article
Bone Mineral Density in Prader Willi Syndrome: A Search for Genetic Markers
Author(s): Altarescu G, Gross-Tsur V, Hirsch H, Zimran A, Weintraub A and Eldar-Geva TAltarescu G, Gross-Tsur V, Hirsch H, Zimran A, Weintraub A and Eldar-Geva T
Introduction: Prader-Willi syndrome (PWS (is caused by lack of paternally expressed imprinted genes at chromosome 15q11.2-q13. Diminished (BMD) and osteoporosis are common in PWS. The purpose of this study was to determine whether polymorphisms in genes previously shown to correlate with bone mineral density (BMD), might explain the variable expression of abnormal BMD in PWS.
Material and methods: Blood samples were collected from 96 PWS individuals aged 3.5-47.9 (median 14.4) years. DNA samples were tested for 12 polymorphisms in 8 candidate genes: interleukin-1 (IL1-alfa, IL1-beta and IL1RN), CYP1A1, Low Density Lipoprotein Receptor-Related Protein 5 (LRP5), vitamin D receptor (VDR), RANK and RANKL. All patients underwent BMD measurements at the femoral neck and lumbar spine using a hologic dual energy x-ray absorptiometry (DXA) machine... View More»
DOI:
10.4172/2329-9509.1000187