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

被引：7

作者：

Arnheim, Efrat ^{[1
]}

Chicco, Gaya ^{[1
]}

Phillips, Mici ^{[1
]}

Lebel, Ehud ^{[3
]}

Foldes, A. Joseph ^{[4
]}

Itzchaki, Menachem ^{[3
]}

Elstein, Deborah ^{[1
]}

Zimran, Ari ^{[1
]}

Altarescu, Gheona ^{[2
]}

机构：

[1] Shaare Zedek Med Ctr, Gaucher Clin, Jerusalem, Israel

[2] Shaare Zedek Med Ctr, Med Genet Unit, Jerusalem, Israel

[3] Shaare Zedek Med Ctr, Dept Orthoped Surg, Jerusalem, Israel

[4] Hadassah Univ Hosp, Osteoporosis Ctr, IL-91120 Jerusalem, Israel

来源：

RHEUMATOLOGY INTERNATIONAL | 2008年 / 28卷 / 09期

关键词：

bone disease; Gaucher disease; osteopathy; polymorphisms; bone density;

D O I：

10.1007/s00296-008-0550-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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

引用

页码：873 / 877

页数：5

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