Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah; Intermountain Healthcare, Murray, Utah.
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah.
Fertil Steril. 2023 Jan;119(1):128-134. doi: 10.1016/j.fertnstert.2022.09.027. Epub 2022 Oct 22.
To determine the familiality of primary ovarian insufficiency (POI) at population level through examination of multigenerational genealogical information linked to electronic medical records.
Case-control study.
Not applicable.
PATIENT(S): Women with POI were identified using International Classification of Disease 9 and 10 codes in electronic medical records (1995-2021) from 2 major health care systems in Utah and reviewed for accuracy. Cases were linked to genealogy information in the Utah Population Database (UPDB). All included POI cases (n = 396) were required to have genealogy information available for at least 3 generations of ancestors. The risk of POI in relatives was compared with population rates for POI matched by age, sex, and birthplace.
INTERVENTION(S): Not applicable.
MAIN OUTCOME MEASURE(S): Relative risk of POI in first-, second-, and third-degree relatives.
RESULT(S): We identified 396 validated cases of POI with an associated 2,132 first-degree relatives, 5,245 second-degree relatives, and 10,853 third-degree relatives. We found an increased risk of POI among the extended relatives of cases. Specifically, first-degree relatives demonstrated an 18-fold increased risk of POI compared with controls relative risk ([RR],18.52 95% confidence interval [CI], 10.12-31.07), second-degree relatives demonstrated a 4-fold increase (RR, 4.21; CI, 1.15-10.79), and third-degree relatives demonstrated a 2.7-fold increase (RR, 2.65; CI, 1.14-5.21]).
CONCLUSION(S): This is the first population-based study to assess the familial clustering of POI. The data demonstrate excess familiality, familial clustering of POI in excess compared with matched population rates of disease, among first-, second-, and third-degree relatives. These findings support a genetic contribution to POI.
通过检查与电子病历相关的多代系谱信息，确定原发性卵巢功能不全（POI）在人群中的家族性。
病例对照研究。
不适用。
使用电子病历中的国际疾病分类第 9 版和第 10 版代码（1995-2021 年）从犹他州的 2 个主要医疗保健系统中确定 POI 患者，并对其准确性进行了回顾。病例与犹他州人口数据库（UPDB）中的系谱信息相联系。所有纳入的 POI 病例（n=396）均需提供至少 3 代祖先的系谱信息。将亲属中 POI 的风险与按年龄、性别和出生地匹配的 POI 的人群率进行比较。
不适用。
一级、二级和三级亲属中 POI 的相对风险。
我们确定了 396 例经验证的 POI 病例，与之相关的一级亲属有 2132 人，二级亲属有 5245 人，三级亲属有 10853 人。我们发现病例的扩展亲属中 POI 的风险增加。具体而言，一级亲属患 POI 的风险是对照组的 18 倍（相对风险[RR]，18.52；95%置信区间[CI]，10.12-31.07），二级亲属的风险增加了 4 倍（RR，4.21；CI，1.15-10.79），三级亲属的风险增加了 2.7 倍（RR，2.65；CI，1.14-5.21）。
这是第一项评估 POI 家族聚集性的基于人群的研究。数据表明，与疾病的匹配人群率相比，POI 在一级、二级和三级亲属中存在过度的家族性和家族聚集。这些发现支持 POI 的遗传贡献。
