Characterizing the Clinical and Genetic Spectrum of Polycystic Ovary Syndrome in Electronic Health Records.
Characterizing the Clinical and Genetic Spectrum of Polycystic Ovary Syndrome in Electronic Health Records.
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DOI：
10.1210/clinem/dgaa675
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发表时间：
2021-01-01
期刊：
影响因子：
--
通讯作者：
Davis LK
中科院分区：
文献类型：
--
作者：
Actkins KV;Singh K;Hucks D;Velez Edwards DR;Aldrich M;Cha J;Wellons M;Davis LK
多囊卵巢综合征(PCOS)是导致不孕症的主要原因之一，但目前的诊断标准对于那些症状超出严格诊断标准的患者来说是无效的。因此，多囊卵巢综合征被低估了，其病因也鲜为人知。我们的目标是确定多囊卵巢综合征临床特征的表型谱在种族和民族内和跨民族。我们开发了一种严格定义的PCOS算法(PCOS关键字-严格)，使用了国际疾病分类、第九次和第十次修订以及从电子健康记录(EHR)数据的临床笔记中挖掘的关键字。然后，我们系统地放宽了纳入标准，以评估流行病学和遗传相关性的变化，从而产生了3个后续算法(PCOS编码-宽泛、PCOS编码-严格和PCOS关键字-宽泛)。我们评估了每种表型方法的表现，并描述了在种族和民族多样化的PCOS患者中观察到的显著临床特征。最好的性能来自于PCOS编码的严格算法，其正预测值为98%。与对照组相比，被该算法归类为病例的个体具有显著更高的体重指数(BMI)、胰岛素水平、游离睾丸素值和多囊卵巢综合征的遗传风险分数。与患有多囊卵巢综合征的白人和西班牙裔女性相比，患有多囊卵巢综合征的非裔美国女性的BMI中位数更高。观察到多囊卵巢综合征症状的严重程度与普通人群中多囊卵巢综合征的持续遗传易感性相似。在不同的表型策略中，多囊卵巢综合征的症状和代谢健康存在种族和民族差异。
Polycystic ovary syndrome (PCOS) is one of the leading causes of infertility, yet current diagnostic criteria are ineffective at identifying patients whose symptoms reside outside strict diagnostic criteria. As a result, PCOS is underdiagnosed and its etiology is poorly understood. We aim to characterize the phenotypic spectrum of PCOS clinical features within and across racial and ethnic groups. We developed a strictly defined PCOS algorithm (PCOSkeyword-strict) using the International Classification of Diseases, ninth and tenth revisions and keywords mined from clinical notes in electronic health records (EHRs) data. We then systematically relaxed the inclusion criteria to evaluate the change in epidemiological and genetic associations resulting in 3 subsequent algorithms (PCOScoded-broad, PCOScoded-strict, and PCOSkeyword-broad). We evaluated the performance of each phenotyping approach and characterized prominent clinical features observed in racially and ethnically diverse PCOS patients. The best performance came from the PCOScoded-strict algorithm, with a positive predictive value of 98%. Individuals classified as cases by this algorithm had significantly higher body mass index (BMI), insulin levels, free testosterone values, and genetic risk scores for PCOS, compared to controls. Median BMI was higher in African American females with PCOS compared to White and Hispanic females with PCOS. PCOS symptoms are observed across a severity spectrum that parallels the continuous genetic liability to PCOS in the general population. Racial and ethnic group differences exist in PCOS symptomology and metabolic health across different phenotyping strategies.
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影响因子：
2.8
作者：
Antonio L;Pauwels S;Laurent MR;Vanschoubroeck D;Jans I;Billen J;Claessens F;Decallonne B;De Neubourg D;Vermeersch P;Vanderschueren D
通讯作者：
Vanderschueren D
影响因子：
30.8
作者：
Das, Sayantan;Forer, Lukas;Schoenherr, Sebastian;Sidore, Carlo;Locke, Adam E.;Kwong, Alan;Vrieze, Scott I.;Chew, Emily Y.;Levy, Shawn;McGue, Matt;Schlessinger, David;Stambolian, Dwight;Loh, Po-Ru;Iacono, William G.;Swaroop, Anand;Scott, Laura J.;Cucca, Francesco;Kronenberg, Florian;Boehnke, Michael;Abecasis, Goncalo R.;Fuchsberger, Christian
通讯作者：
Fuchsberger, Christian
影响因子：
3.7
作者：
Bien SA;Wojcik GL;Zubair N;Gignoux CR;Martin AR;Kocarnik JM;Martin LW;Buyske S;Haessler J;Walker RW;Cheng I;Graff M;Xia L;Franceschini N;Matise T;James R;Hindorff L;Le Marchand L;North KE;Haiman CA;Peters U;Loos RJ;Kooperberg CL;Bustamante CD;Kenny EE;Carlson CS;PAGE Study
通讯作者：
PAGE Study
影响因子：
3.7
作者：
Lerchbaum E;Schwetz V;Rabe T;Giuliani A;Obermayer-Pietsch B
通讯作者：
Obermayer-Pietsch B
影响因子：
2.8
作者：
Baldani DP;Skrgatic L;Ougouag R
通讯作者：
Ougouag R