Wu Ji-Qin, Zhu Li-Ping, Ou Xue-Ting, Xu Bin, Zhang Qiang-Qiang, Weng Xin-Hua
Department of Infectious Diseases, Huashan Hospital, Fudan University, Shanghai 200040, China. Email:
Zhonghua Nei Ke Za Zhi. 2010 Feb;49(2):138-41.
To investigate the polymorphism profile of cytochrome P(450) 2C19 (CYP2C19) in Chinese patients with invasive fungal infections.
Two major single nucleotide polymorphism loci of the CYP2C19 gene (CYP2C192 and CYP2C193) were genotyped with PCR and restriction fragment length polymorphism (PCR-RFLP) in 134 patients with invasive fungal infections and 134 healthy volunteers. Allele frequencies and the proportions of metabolizer phenotypes were compared.
In patients with invasive fungal infections, CYP2C191, CYP2C192 and CYP2C193 alleles showed frequencies of 58.2%, 36.6% and 5.2%. In healthy volunteers, the frequencies of CYP2C191, CYP2C192 and CYP2C193 were 63.4%, 34.3% and 2.2%. There was no significant difference in allele frequencies between the two groups. Of the patients with invasive fungal infections, 33.6% were homozygous extensive metabolizers, 50.0% heterozygous extensive metabolizers and 16.4% poor metabolizers. Of the healthy volunteers, 40.3% were homozygous extensive metabolizers, 48.5% heterozygous extensive metabolizers and 11.2% poor metabolizers. The proportions of metabolizer phenotypes were similar between the two groups.
Significant CYP2C19 polymorphism was detected in both groups. Approximately two thirds of the Chinese patients were either heterozygous extensive metabolizers or poor metabolizers. The genetic polymorphism may have important effect on drug metabolism in these patients.
研究中国侵袭性真菌感染患者细胞色素P450 2C19（CYP2C19）的多态性谱。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对134例侵袭性真菌感染患者和134名健康志愿者的CYP2C19基因两个主要单核苷酸多态性位点（CYP2C192和CYP2C193）进行基因分型。比较等位基因频率和代谢酶表型比例。
侵袭性真菌感染患者中，CYP2C191、CYP2C192和CYP2C193等位基因频率分别为58.2%、36.6%和5.2%。健康志愿者中，CYP2C191、CYP2C192和CYP2C193的频率分别为63.4%、34.3%和2.2%。两组间等位基因频率无显著差异。侵袭性真菌感染患者中，33.6%为纯合子广泛代谢型，50.0%为杂合子广泛代谢型，16.4%为慢代谢型。健康志愿者中，40.3%为纯合子广泛代谢型，48.5%为杂合子广泛代谢型，11.2%为慢代谢型。两组代谢酶表型比例相似。
两组均检测到显著的CYP2C19多态性。约三分之二的中国患者为杂合子广泛代谢型或慢代谢型。这种基因多态性可能对这些患者的药物代谢有重要影响。
