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首页> 外文期刊>Pharmacogenomics >Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology.
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Applications of polymorphisms and pharmacogenomics in obstetrics and gynecology.

机译：多态性和药物基因组学在妇产科的应用。

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The number of reports investigating disease susceptibility based on the carriage of low-penetrance, high-frequency polymorphisms has steadily increased over the last years. Evidence based on meta-analyses of individual case-control studies is accumulating, defining specific individual variations in disease susceptibility. For example, genetic variations of the estradiol metabolism have been described as significant contributors to disease susceptibility with variations depending on ethnic background. In the field of obstetrics and gynecology, the genetic contribution of polymorphic markers to a series of disorders has been characterized. These disorders include recurrent pregnancy loss, pre-eclampsia, endometriosis, breast cancer, and hormone replacement therapy (HRT)-related complications such as thrombosis. Among other genetic markers, thrombophilic genetic variants, such as the Factor V Leiden and prothrombin G20210A polymorphisms, as well as genetic variants of cytochrome P450 (CYP) enzymes, for example, CYP19 and CYP1B1, have been established as genetic risk markers and disease modifiers of recurrent and sporadic pregnancy loss and HRT-independent and -dependent breast cancer, respectively. In addition, meta-analyses of data in the literature established the TGFBR1*6A, GSTP I105V, and TP53 R72P polymorphisms, as well as the GSTM1 gene deletion as low-penetrance genetic risk factors of sporadic breast cancer. With respect to genetic modulation of therapeutic effects, beneficial effects of estrogen replacement therapy and HRT are modulated by the carriage of single nucleotide polymorphisms, for example, osteoprotection and blood lipid changes by the estrogen receptor-alpha (ER-a) PvuII polymorphism. Polymorphisms of the catechol-O-methyltransferase (COMT), ER-alpha, IL-1 receptor antagonist, and Factor V genes have been demonstrated to modulate the timing of natural menopause. Lastly, a strong genetic contribution of polymorphisms to the development and the clinical course of endometriosis has been established with data pointing to polymorphisms of the COMT, GST, NAT-2, and ER-alpha genes as susceptibility markers. In summary, the available evidence points to a number of polymorphisms of a wide variety of genes as strong hereditary determinants of the susceptibility to benign and malignant gynecologic and obstetric conditions.
机译：近年来，基于低渗透性，高频多态性的疾病易感性研究的报告数量稳步增长。基于个体病例对照研究的荟萃分析的证据正在积累，从而确定了疾病易感性的具体个体差异。例如，雌二醇代谢的遗传变异已被描述为疾病易感性的重要贡献者，其变异取决于种族背景。在妇产科领域，已经表征了多态性标志物对一系列疾病的遗传贡献。这些疾病包括复发性流产，先兆子痫，子宫内膜异位症，乳腺癌以及与激素替代疗法（HRT）相关的并发症，例如血栓形成。在其他遗传标记中，已建立了凝血因子遗传变异，例如Factor V Leiden和凝血酶原G20210A多态性，以及细胞色素P450（CYP）酶的遗传变异，例如CYP19和CYP1B1，已被确定为遗传风险标记和疾病修饰剂。复发性和偶发性妊娠丢失以及分别依赖于HRT和依赖HRT的乳腺癌。此外，文献中的数据荟萃分析确定了TGFBR1 * 6A，GSTP I105V和TP53 R72P多态性，以及GSTM1基因缺失作为散发性乳腺癌的低穿透性遗传危险因素。关于治疗效果的遗传调节，雌激素替代疗法和HRT的有益作用通过携带单核苷酸多态性来调节，例如，通过雌激素受体α（ER-a）PvuII多态性来保护骨和改变血脂。儿茶酚-O-甲基转移酶（COMT），ER-α，IL-1受体拮抗剂和因子V基因的多态性已被证明可调节自然更年期的时间。最后，利用指向COMT，GST，NAT-2和ER-alpha基因的多态性作为易感性标记的数据，已经确定了多态性对子宫内膜异位症的发展和临床进程的强大遗传贡献。总之，现有证据表明，多种基因的许多多态性是遗传因素对妇科和产科良性和恶性敏感性的强遗传决定因素。

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