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Clustering of comorbid conditions among women who carry an FMR1 premutation.
Genetics in Medicine ( IF 8.8 ) Pub Date : 2020-01-03 , DOI: 10.1038/s41436-019-0733-5
Emily Graves Allen 1 , Krista Charen 1 , Heather S Hipp 2 , Lisa Shubeck 1 , Ashima Amin 1 , Weiya He 1 , Jessica Ezzell Hunter 3 , Stephanie L Sherman 1
Affiliation  

PURPOSE Emerging evidence indicates that women who carry an FMR1 premutation can experience complex health profiles beyond the two well-established premutation-associated disorders: fragile X-associated primary ovarian insufficiency (FXPOI, affects ~20-30% carriers) and fragile X-associated tremor-ataxia syndrome (FXTAS, affects ~6-15% carriers). METHODS To better understand premutation-associated health profiles, we collected self-reported medical histories on 355 carrier women. RESULTS Twenty-two health conditions were reported by at least 10% of women. Anxiety, depression, and headaches were reported by more than 30%. The number of comorbid conditions was significantly associated with body mass index (BMI) and history of smoking, but not age. Survival analysis indicated that women with FXPOI had an earlier age at onset for anxiety and osteoporosis than women without FXPOI. Cluster analysis identified eight clusters of women who reported similar patterns of comorbid conditions. The majority of carriers (63%) fell into three categories primarily defined by the presence of only a few conditions. Interestingly, a single cluster defined women with symptoms of FXTAS, and none of these women had FXPOI. CONCLUSION Although some women with a premutation experience complex health outcomes, most carriers report only minimal comorbid conditions. Further, women with symptoms of FXTAS appear to be distinct from women with symptoms of FXPOI.

中文翻译:

携带 FMR1 前突变的女性的合并症聚类。

目的 新出现的证据表明,携带 FMR1 前突变的女性除了两种公认的前突变相关疾病外,还可能经历复杂的健康状况:脆性 X 相关原发性卵巢功能不全(FXPOI,影响约 20-30% 的携带者)和脆性 X 相关震颤共济失调综合征(FXTAS,影响约 6-15% 的携带者)。方法 为了更好地了解与前突变相关的健康状况,我们收集了 355 名携带者女性的自我报告病史。结果 至少 10% 的女性报告了 22 种健康状况。超过 30% 的人报告有焦虑、抑郁和头痛。合并症的数量与体重指数(BMI)和吸烟史显着相关,但与年龄无关。生存分析表明,与没有 FXPOI 的女性相比,患有 FXPOI 的女性患焦虑症和骨质疏松症的年龄更早。聚类分析确定了八组报告相似合并症模式的女性。大多数承运人(63%)分为三类,主要由仅存在少数几个条件来定义。有趣的是,一个集群定义了具有 FXTAS 症状的女性,而这些女性都没有 FXPOI。结论 尽管一些具有前突变的女性经历了复杂的健康结果,但大多数携带者仅报告了极少的合并症。此外,有 FXTAS 症状的女性似乎与有 FXPOI 症状的女性不同。大多数承运人(63%)分为三类,主要由仅存在少数几个条件来定义。有趣的是,一个集群定义了具有 FXTAS 症状的女性,而这些女性都没有 FXPOI。结论 尽管一些具有前突变的女性经历了复杂的健康结果,但大多数携带者仅报告了极少的合并症。此外,有 FXTAS 症状的女性似乎与有 FXPOI 症状的女性不同。大多数承运人(63%)分为三类,主要由仅存在少数几个条件来定义。有趣的是,一个集群定义了具有 FXTAS 症状的女性,而这些女性都没有 FXPOI。结论 尽管一些具有前突变的女性经历了复杂的健康结果,但大多数携带者仅报告了极少的合并症。此外,有 FXTAS 症状的女性似乎与有 FXPOI 症状的女性不同。
更新日期:2020-01-04
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