【佳學基因檢測】Calpain (CAPN) 10 (UCSNP-43, rs3792267) 基因多態(tài)性與多囊卵巢綜合征 (PCOS) 賊嚴重表型的年輕女性血清雄激素升高的關聯(lián)

婦科及產科基因檢測哪家機構賊好導讀

根據婦科疾病及婦科異常基因檢測全面性的標準與實施方案知悉《Gynecol Endocrinol》在. 2015;31(8):630-4.發(fā)表了一篇題目為《Calpain (CAPN) 10 (UCSNP-43, rs3792267) 基因多態(tài)性與多囊卵巢綜合征 (PCOS) 賊嚴重表型的年輕女性血清雄激素升高的關聯(lián)》婦產科靶向藥物治療基因檢測臨床研究文章。該研究由Karela Anastasia , Vasiliki Koika , Nikolaos D Roupas , Anastasia Armeni , Dimitra Marioli , Dimitrios Panidis , Adonakis George , Neoklis A Georgopoulos 等完成。這是在業(yè)內同行優(yōu)先在婦產科基因檢測基項目中使用多態(tài)性基因檢測技術的臨床案例，是婦科中心和婦幼醫(yī)院提升診斷和治療能力的一個途徑。

婦科個性化藥物選擇臨床研究內容關鍵詞：

CAPN 10 基因 UCSNP-43 (rs3792267) 多態(tài)性,鈣蛋白酶 10 基因多態(tài)性,多囊卵巢綜合征

婦科靶向治療基因檢測臨床應用結果

多囊卵巢綜合癥的致病基因及靶向藥物基因檢測研究目的：強調鈣蛋白酶 (CAPN 10) 基因 UCSNP-43 多態(tài)性與具有不同多囊卵巢綜合征 (PCOS) 表型的年輕女性的激素和代謝特征的可能關聯(lián)。婦科腫瘤基因檢測臨床價值研究設計：對多囊卵巢綜合癥女性進行 CAPN 10 基因 UCSNP- 基因分型43 多態(tài)性。評估了基于 CAPN 10 基因 UCSNP-43 變體分層的多囊卵巢綜合癥女性臨床和生化特征的比較。婦科腫瘤基因檢測研究方法：對 668 名多囊卵巢綜合癥女性和 200 名健康對照進行人體測量、激素和生化測量。還對受試者進行 CAPN 10 基因 UCSNP-43 多態(tài)性的基因檢測基因分型。使用卡方檢驗比較組和對照組之間的基因型頻率分布。還估計了多態(tài)性與研究隊列的臨床和生化特征的關聯(lián)。婦種腫瘤靶向藥物基因檢測臨床效果評價結果：未檢測到 CAPN 10 基因 UCSNP-43 多態(tài)性的頻率與多囊卵巢綜合癥的關聯(lián)。在多囊卵巢綜合癥PCOS 和對照女性中均未檢測到多態(tài)性與人體測量學、生化和激素特征的關聯(lián)。該多態(tài)性與多囊卵巢綜合癥PCOS表型A女性的血清Δ4雄烯二酮（p = 0.018）以及17-羥基孕酮（17-羥基孕酮）相關（p = 0.012）。結論：CAPN 10基因多態(tài)性UCSNP-43被剝奪代謝對心血管疾病 (CVD) 的貢獻。然而，由于其與表型A雄激素過多有關，CAPN 10基因多態(tài)性UCSNP-43可用作年輕PCOS女性CVD的遺傳標記。本研究納入國際基因檢測證據庫，證據庫查詢標簽為：CAPN 10基因UCSNP-43（rs3792267）多態(tài)性；鈣蛋白酶 10 基因多態(tài)性；多囊卵巢綜合征。

婦科疾病發(fā)生與反復轉移國際數據庫描述：

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.