CYP2C8 基因多态性与多发性骨髓瘤患者双膦酸盐相关性颌骨坏死。
CYP2C8 gene polymorphism and bisphosphonate-related osteonecrosis of the jaw in patients with multiple myeloma.
机构信息
Department of Hematology, Hospital Universitario La Fe, Valencia, Spain.
出版信息
Haematologica. 2011 Oct;96(10):1557-9. doi: 10.3324/haematol.2011.042572. Epub 2011 Jun 17.
Abstract
Osteonecrosis of the jaw is an uncommon but potentially serious complication of bisphosphonate therapy in multiple myeloma. Previous studies showed that the presence of one or two minor alleles of the cytochrome P450, subfamily 2C polypeptide 8 gene (CYP2C8) polymorphism rs1934951 was an independent prognostic marker associated with development of osteonecrosis of the jaw in multiple myeloma patients treated with bisphosphonates. The aim of this study was to validate the frequency of SNP rs193451 in 79 patients with multiple myeloma. In 9 (22%) patients developing osteonecrosis of the jaw, a heterozygous genotype was found, in contrast with those who did not develop osteonecrosis of the jaw (n=4, 11%) or healthy individuals (n=6, 13%). We found no differences in the cumulative risk of developing osteonecrosis of the jaw between patients homozygous and heterozygous for the major allele. We were unable to confirm a significant association between this polymorphism and the risk of developing osteonecrosis of the jaw.
摘要
颌骨骨坏死是多发性骨髓瘤患者接受双磷酸盐治疗后一种罕见但潜在严重的并发症。先前的研究表明，细胞色素 P450 亚家族 2C 多肽 8 基因（CYP2C8）多态性 rs1934951 的一个或两个次要等位基因的存在是与接受双磷酸盐治疗的多发性骨髓瘤患者发生颌骨骨坏死相关的独立预后标志物。本研究的目的是验证 SNP rs193451 在 79 例多发性骨髓瘤患者中的频率。在发生颌骨骨坏死的 9 例（22%）患者中，发现存在杂合基因型，而在未发生颌骨骨坏死的患者（n=4，11%）或健康个体（n=6，13%）中未发现。我们发现，主要等位基因纯合子和杂合子患者发生颌骨骨坏死的累积风险没有差异。我们无法证实该多态性与发生颌骨骨坏死的风险之间存在显著关联。
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