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Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis
Annals of Human Genetics ( IF 1.9 ) Pub Date : 2020-06-02 , DOI: 10.1111/ahg.12396
Stefania Nappo 1 , Liliana Mannucci 2 , Giuseppe Novelli 2, 3, 4 , Federica Sangiuolo 2, 4 , Maria Rosaria D'Apice 2 , Annalisa Botta 4
Affiliation  

The complexity in the molecular diagnosis of Cystic Fibrosis (CF) also depends on the variable prevalence/incidence of the disease associated with the wide CFTR allelic heterogeneity among different populations. In fact, CF incidence in Asian and African countries is underestimated and the few patients reported so far have rare or unique CFTR pathogenic variants. To obtain insights into CF variants profile and frequency, we used the large population sequencing data in the Genome Aggregation Database (gnomAD). We selected 207 CF‐causing/varying clinical consequence variants from CFTR2 database and additional 15 variants submitted to the ClinVar database. Only 14 of these variants were found in the East‐Asian population, while for South‐Asian and African populations we identified 43 and 52 variants, respectively, confirming the peculiarity of the CFTR allelic spectrum with only few population‐specific variants. These data could be used to optimize CFTR carrier screening in non‐Caucasian subjects, choosing between the full gene sequencing and cost and time‐effective targeted panels.

中文翻译:

通过基于基因组聚合数据库 (gnomAD) 的分析,CFTR 变异在非高加索人群中的携带频率

囊性纤维化 (CF) 分子诊断的复杂性还取决于与不同人群之间广泛的 CFTR 等位基因异质性相关的疾病的可变患病率/发病率。事实上,亚洲和非洲国家的 CF 发病率被低估了,迄今为止报道的少数患者具有罕见或独特的 CFTR 致病变异。为了深入了解 CF 变异特征和频率,我们使用了基因组聚合数据库 (gnomAD) 中的大量群体测序数据。我们从 CFTR2 数据库中选择了 207 个导致 CF 的/不同的临床后果变体,另外还有 15 个变体提交到 ClinVar 数据库。在东亚人群中仅发现了 14 个这些变异,而对于南亚和非洲人群,我们分别确定了 43 个和 52 个变异,证实了 CFTR 等位基因谱的特殊性,只有少数群体特异性变异。这些数据可用于优化非白种人受试者的 CFTR 携带者筛查,在全基因测序和成本和时间有效的靶向组合之间进行选择。
更新日期:2020-06-02
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