Kastritis Efstathios, Melea Pelagia, Bagratuni Tina, Melakopoulos Ioannis, Gavriatopoulou Maria, Roussou Maria, Migkou Magdalini, Eleutherakis-Papaiakovou Evangelos, Terpos Evangelos, Dimopoulos Meletios A
a Department of Clinical Therapeutics , National and Kapodistrian University of Athens, School of Medicine , Athens , Greece.
Leuk Lymphoma. 2017 Oct;58(10):2304-2309. doi: 10.1080/10428194.2017.1300889. Epub 2017 Jun 11.
Specific genetic polymorphisms (SNPs) have been correlated with the development of bisphosphonate-related osteonecrosis of the jaw (BRONJ) in small series. We screened 140 myeloma patients (36 patients with and 104 without BRONJ) for the presence of previously identified SNPs in PPARG and CYP2C8 genes. All the patients received exclusively zolendronic acid (ZA) therapy and were followed prospectively for BRONJ. SNPs in both genes were associated with a higher risk of development of early BRONJ, occurring within less than 2 years of ZA therapy (59% vs. 16%, p = .022 for PPARG and 29% vs. 7%, p = .07 for CYP2C8) and a shorter time to develop BRONJ (59% versus 12%, p = .011 for PPARG and 29% versus 0% at 2 years, p = .037 for CYP2C8), independently of indices of poor oral hygiene. Thus, although preliminary, our data indicate that the presence of SNPs in PPARG and CYP2C8 genes may be associated with increased risk of early BRONJ.
在小规模研究中，特定的基因多态性（单核苷酸多态性，SNPs）已与双膦酸盐相关颌骨坏死（BRONJ）的发生相关。我们对140例骨髓瘤患者（36例患有BRONJ，104例未患BRONJ）进行筛查，检测其PPARG和CYP2C8基因中先前已确定的SNPs的存在情况。所有患者均仅接受唑来膦酸（ZA）治疗，并对BRONJ进行前瞻性随访。两个基因中的SNPs均与早期BRONJ发生风险较高相关，早期BRONJ发生在ZA治疗不到2年的时间内（PPARG基因：59%对16%，p = 0.022；CYP2C8基因：29%对7%，p = 0.07），且发生BRONJ的时间较短（PPARG基因：59%对12%，p = 0.011；CYP2C8基因：2年时为29%对0%，p = 0.037），与口腔卫生不良指标无关。因此，尽管是初步研究，但我们的数据表明PPARG和CYP2C8基因中SNPs的存在可能与早期BRONJ风险增加相关。
