Autosomal recessive diseases, such as cystic fibrosis (CF), require inheritance of 2 mutated genes. However, some studies indicate that CF carriers are at increased risk for some conditions associated with CF. These investigations focused on single conditions and included small numbers of subjects. Our goal was to determine whether CF carriers are at increased risk for a range of CF-related conditions. Using the Truven Health MarketScan Commercial Claims database (2001-2017), we performed a population-based retrospective matched-cohort study. We identified 19,802 CF carriers and matched each carrier with 5 controls. The prevalence of 59 CF-related diagnostic conditions was evaluated in each cohort. Odds ratios for each condition were computed for CF carriers relative to controls. All 59 CF-related conditions were more prevalent among carriers compared with controls, with significantly increased risk (P < 0.05) for 57 conditions. Risk was increased for some conditions previously linked to CF carriers (e.g., pancreatitis, male infertility, bronchiectasis), as well as some conditions not previously reported (e.g., diabetes, constipation, cholelithiasis, short stature, failure to thrive). We compared our results with 23,557 subjects with CF, who were also matched with controls; as the relative odds of a given condition increased among subjects with CF, so did the corresponding relative odds for carriers (P < 0.001). Although individual-level risk remained low for most conditions, because there are more than 10 million carriers in the US, population-level morbidity attributable to the CF carrier state is likely substantial. Genetic testing may inform prevention, diagnosis, and treatment for a broad range of CF carrier-related conditions.

中文翻译：

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囊性纤维化携带者患囊性纤维化相关疾病的风险增加。

常染色体隐性遗传疾病，例如囊性纤维化（CF），需要2个突变基因的遗传。但是，一些研究表明，CF携带者面临与CF相关的某些疾病的风险增加。这些调查只针对单一条件，只包括少数几个主题。我们的目标是确定CF携带者在一系列与CF相关的疾病中是否处于增加的风险中。使用Truven Health MarketScan商业索赔数据库（2001-2017），我们进行了一项基于人群的回顾性配对队列研究。我们确定了19,802个CF载波，并将每个载波与5个控件匹配。在每个队列中评估了59种与CF相关的诊断条件的患病率。计算CF载体相对于对照的每种条件的几率。与对照组相比，所有59种与CF相关的疾病在患病者中更为普遍，其中57种疾病的风险显着增加（P <0.05）。对于先前与CF携带者相关的某些疾病（例如，胰腺炎，男性不育，支气管扩张）以及先前未报道的某些疾病（例如，糖尿病，便秘，胆石症，矮小，failure壮成长），风险增加。我们将结果与23,557名CF患者进行了比较，这些受试者也与对照组匹配；在CF患者中，由于给定条件的相对几率增加，因此携带者的相对几率也增加了（P <0.001）。尽管在大多数情况下，个人一级的风险仍然很低，但是由于美国有超过一千万的航空公司，CF携带者导致的人群发病率可能很高。基因检测可以为广泛的CF载体相关疾病的预防，诊断和治疗提供信息。