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Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density

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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 1α and 1β, interleukin-1 receptor antagonist; cytochrome P450; collagen 1A1; low-density Lipoprotein Receptor; bone morphogenic protein 4; vitamin D receptor; and estrogen receptor 2β) 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.

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Conflict of interest statement

None of the authors have any conflicts of interest to report. No external funding was received for this study.

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Authors and Affiliations

  1. Gaucher Clinic, Shaare Zedek Medical Center, One Bazak Road, PO Box 3235, Jerusalem, Israel

    Efrat Arnheim, Gaya Chicco, Mici Phillips, Deborah Elstein & Ari Zimran

  2. Medical Genetics Unit, Shaare Zedek Medical Center, Jerusalem, Israel

    Gheona Altarescu

  3. Department of Orthopedic Surgery, Shaare Zedek Medical Center, Jerusalem, Israel

    Ehud Lebel & Menachem Itzchaki

  4. Osteoporosis Center, Hadassah University Hospital, Jerusalem, Israel

    A. Joseph Foldes

Authors
  1. Efrat Arnheim
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  2. Gaya Chicco
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  3. Mici Phillips
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  4. Ehud Lebel
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  5. A. Joseph Foldes
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  6. Menachem Itzchaki
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  7. Deborah Elstein
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  8. Ari Zimran
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  9. Gheona Altarescu
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Corresponding author

Correspondence to Deborah Elstein.

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Arnheim, E., Chicco, G., Phillips, M. et al. Molecular aspects of osteopathy in type 1 Gaucher disease: correlation between genetics and bone density. Rheumatol Int 28, 873–877 (2008). https://doi.org/10.1007/s00296-008-0550-7

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  • DOI: https://doi.org/10.1007/s00296-008-0550-7

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