【佳学基因检测】Calpain (CAPN) 10 (UCSNP-43, rs3792267) 基因多态性与多囊卵巢综合征 (PCOS) 贼严重表型的年轻女性血清雄激素升高的关联

妇科及产科基因检测哪家机构贼好导读

根据妇科疾病及妇科异常基因检测全面性的标准与实施方案知悉《Gynecol Endocrinol》在. 2015;31(8):630-4.发表了一篇题目为《Calpain (CAPN) 10 (UCSNP-43, rs3792267) 基因多态性与多囊卵巢综合征 (PCOS) 贼严重表型的年轻女性血清雄激素升高的关联》妇产科靶向药物治疗基因检测临床研究文章。该研究由Karela Anastasia , Vasiliki Koika , Nikolaos D Roupas , Anastasia Armeni , Dimitra Marioli , Dimitrios Panidis , Adonakis George , Neoklis A Georgopoulos 等完成。这是在业内同行优先在妇产科基因检测基项目中使用多态性基因检测技术的临床案例，是妇科中心和妇幼医院提升诊断和治疗能力的一个途径。

妇科个性化药物选择临床研究内容关键词：

CAPN 10 基因 UCSNP-43 (rs3792267) 多态性,钙蛋白酶 10 基因多态性,多囊卵巢综合征

妇科靶向治疗基因检测临床应用结果

多囊卵巢综合症的致病基因及靶向药物基因检测研究目的：强调钙蛋白酶 (CAPN 10) 基因 UCSNP-43 多态性与具有不同多囊卵巢综合征 (PCOS) 表型的年轻女性的激素和代谢特征的可能关联。妇科肿瘤基因检测临床价值研究设计：对多囊卵巢综合症女性进行 CAPN 10 基因 UCSNP- 基因分型43 多态性。评估了基于 CAPN 10 基因 UCSNP-43 变体分层的多囊卵巢综合症女性临床和生化特征的比较。妇科肿瘤基因检测研究方法：对 668 名多囊卵巢综合症女性和 200 名健康对照进行人体测量、激素和生化测量。还对受试者进行 CAPN 10 基因 UCSNP-43 多态性的基因检测基因分型。使用卡方检验比较组和对照组之间的基因型频率分布。还估计了多态性与研究队列的临床和生化特征的关联。妇种肿瘤靶向药物基因检测临床效果评价结果：未检测到 CAPN 10 基因 UCSNP-43 多态性的频率与多囊卵巢综合症的关联。在多囊卵巢综合症PCOS 和对照女性中均未检测到多态性与人体测量学、生化和激素特征的关联。该多态性与多囊卵巢综合症PCOS表型A女性的血清Δ4雄烯二酮（p = 0.018）以及17-羟基孕酮（17-羟基孕酮）相关（p = 0.012）。结论：CAPN 10基因多态性UCSNP-43被剥夺代谢对心血管疾病 (CVD) 的贡献。然而，由于其与表型A雄激素过多有关，CAPN 10基因多态性UCSNP-43可用作年轻PCOS女性CVD的遗传标记。本研究纳入国际基因检测证据库，证据库查询标签为：CAPN 10基因UCSNP-43（rs3792267）多态性；钙蛋白酶 10 基因多态性；多囊卵巢综合征。

妇科疾病发生与反复转移国际数据库描述：

Objectives: To highlight a possible association of Calpain (CAPN 10) gene UCSNP-43 polymorphism with hormonal and metabolic traits of young women with different phenotypes of polycystic ovary syndrome (PCOS).Design: PCOS women were genotyped for the CAPN 10 gene UCSNP-43 polymorphism. A comparison of clinical and biochemical features of women with PCOS stratified on the basis of the CAPN 10 gene UCSNP-43 variants was assessed.Methods: Anthropometric, hormonal and biochemical measurements were carried out in 668 PCOS women and 200 healthy controls. Subjects were also genotyped for the CAPN 10 gene UCSNP-43 polymorphism. The genotype frequency distributions between groups and controls were compared using the chi-square test. The association of the polymorphism with the clinical and biochemical features of the study cohort was estimated as well.Results: No association of the frequency of CAPN 10 gene UCSNP-43 polymorphism with PCOS was detected. No association of the polymorphism with the anthropometric, biochemical and hormonal features was detected both in PCOS and control women. The polymorphism was associated with serum Δ4 androstenedione (p = 0.018), as well as with 17-OH progesterone (17-hydroxyprogesterone) among women with PCOS phenotype A (p = 0.012).Conclusions: CAPN 10 gene polymorphism UCSNP-43 is deprived of a metabolic contribution to cardiovascular disease (CVD). However, due to its association with androgen excess in phenotype A, CAPN 10 gene polymorphism UCSNP-43 could be used as a genetic marker for CVD in young PCOS women.Keywords: CAPN 10 gene UCSNP-43 (rs3792267) polymorphism; Calpain 10 gene polymorphism; PCOS.