title: Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density.
abstract: Bone-related complications in Gaucher disease are considered to be poorly responsive to specific enzyme replacement therapy. Polymorphisms of candidate genes associated with low bone density were investigated to see whether they are correlated with bone mineral density (BMD) and bone involvement in Gaucher disease. Genotyping for polymorphisms in candidate genes (interleukins 1alpha and 1beta, interleukin-1 receptor antagonist; cytochrome P450; collagen 1A1; low-density Lipoprotein Receptor; bone morphogenic protein 4; vitamin D receptor; and estrogen receptor 2beta) were performed using standard methodologies. BMD was measured by dual energy X-ray absorptiometry (DXA). One hundred and ninety-four patients and 100 controls were genotyped for the above polymorphisms. Thirteen haplotypes were obtained, with several correlations with BMD in patients; also, a haplotype (T889-T3954-C511-240VNTR of IL1) was significantly correlated with T-scores and Z-score for femur neck and lumbar spine (p = 0.01) in patients. Haplotypes of bone-specific candidate genes associated with BMD may predict severity of these features in Gaucher disease.
authors.affiliation: Gaucher Clinic, Shaare Zedek Medical Center, One Bazak Road, PO Box 3235, Jerusalem, Israel.
authors.forename: Efrat
authors.initials: E
authors.lastname: Arnheim
authors.forename: Gaya
authors.initials: G
authors.lastname: Chicco
authors.forename: Mici
authors.initials: M
authors.lastname: Phillips
authors.forename: Ehud
authors.initials: E
authors.lastname: Lebel
authors.forename: A Joseph
authors.initials: AJ
authors.lastname: Foldes
authors.forename: Menachem
authors.initials: M
authors.lastname: Itzchaki
authors.forename: Deborah
authors.initials: D
authors.lastname: Elstein
authors.forename: Ari
authors.initials: A
authors.lastname: Zimran
authors.forename: Gheona
authors.initials: G
authors.lastname: Altarescu
mesh_terms: D000328:Adult; D015519:Bone Density / Q000235:genetics*; D001851:Bone Diseases, Metabolic / Q000150:complications / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*