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目的考察核苷二磷酸链接部分X型结构域基因1(NUDT1)基因多态性与嘌呤类药物导致的白细胞减少症的相关性。方法纳入176例服用嘌呤类药物的克罗恩病患者,用Sequenom i PLEXTMMass Assay方法检测NUDT1rs3735092与rs34996498的基因型,分析不同基因型与嘌呤类药物导致的白细胞减少症的相关性。结果 NUDT1 rs34996498(A>G)突变与嘌呤类药物导致的白细胞减少症显著相关(P<0.05),经Bonferroni校正后为边际效应;NUDT1rs3735092(C>T)突变与白细胞减少症的发生不相关(P>0.05)。白细胞减少症的发生与患者性别存在显著相关,女性发生白细胞减少症的风险高于男性(P<0.01)。结论 NUDT1 rs34996498基因多态性可能影响白细胞减少症的发生,需要进一步扩大样本量验证。
Objective To investigate the relationship between SNP gene polymorphism of XDNF1 and leucopenia caused by purine drugs. Methods A total of 176 patients with Crohn’s disease who took purine drugs were enrolled. The genotypes of NUDT1 rs3735092 and rs34996498 were detected by Sequenom i PLEXTMMass Assay, and the correlation between different genotypes and purine-induced leucopenia was analyzed. Results The mutation of NUDT1 rs34996498 (A> G) was significantly associated with purine-induced leucopenia (P <0.05), and was marginal after Bonferroni correction. The mutation of NUDT1 rs3735092 (C> T) was not associated with leukopenia P> 0.05). The incidence of leukopenia was significantly associated with the gender of the patients, and the risk of leukopenia was higher in women than in men (P <0.01). Conclusion NUDT1 rs34996498 gene polymorphism may affect the occurrence of leukopenia, the need to further expand the sample size verification.