Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
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DOI：
10.1016/j.ymgmr.2021.100734
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发表时间：
2021-06
影响因子：
1.9
通讯作者：
Park KS
中科院分区：
文献类型：
--
作者：
Park KS
庞贝病的遗传患病率是根据在一般人群数据库中具有致病基因型的个体比例来估计的。此外，根据目前可用的基因座特异性数据库（lsdb）评估致病基因型的临床严重程度，该数据库包含基因型和临床严重程度的信息。结合ClinVar、ClinGen Evidence Repository、Pompe病GAA变异数据库和Pompe Registry的lsdb，分析基因组聚集数据库（gnomAD） （v2.1.1）中GAA基因的遗传变异。估计携带者频率（CF）和预测遗传患病率（pGP）。在7个人群中，东亚和非洲显示出与典型的婴儿发病庞贝病相关的致病性或可能致病性变异（plpv）比例较高。总体人群的总CF和pGP分别为1.3%（1 / 77）和1:23,232。东亚人群的pGP最高，为1:12,125，其次是非芬兰欧洲人（1:13,756），德系犹太人（1:22,851），非洲人/非裔美国人（1:26,560），拉丁裔/混血儿美国人（1:57,620），南亚人（1:9,087）和芬兰人（1:10,56,444）。庞贝病的pGP（1:23,232）比先前接受的（1:40,000）高。庞贝病的pGP在人群中预期是广泛的，并且与先前基于新生儿筛查计划的报告一致（大约1:10 000 - 1:30 000）。
The genetic prevalence of Pompe disease was estimated based on the proportion of individuals who have a causative genotype in a general population database. In addition, clinical severity for causative genotypes was assessed based on currently available locus-specific databases (LSDBs), which contain information on both genotype and clinical severity. Genetic variants in the GAA gene in the Genome Aggregation Database (gnomAD) (v2.1.1) were analyzed in combination with LSDBs of ClinVar, ClinGen Evidence Repository, Pompe disease GAA variant database, and the Pompe Registry. Carrier frequency (CF) and predicted genetic prevalence (pGP) were estimated. Of 7 populations, East Asian and African showed higher proportions of pathogenic or likely pathogenic variants (PLPVs) associated with classic infantile-onset Pompe disease. Total CF and pGP in the overall population were 1.3% (1 in 77) and 1:23,232, respectively. The highest pGP was observed in the East Asian population at 1:12,125, followed by Non-Finnish European (1:13,756), Ashkenazi Jewish (1:22,851), African/African-American (1:26,560), Latino/Admixed American (1:57,620), South Asian (1:93,087), and Finnish (1:1,056,444). Pompe disease has a higher pGP (1:23,232) than earlier accepted (1:40,000). The pGP for Pompe disease was expectedly wide by population and consistent with previous reports based on newborn screening programs (approximately 1:10,000–1:30,000).
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DOI：
10.1073/pnas.1913179117
发表时间：
2020-02-04
影响因子：
11.1
作者：
Hanany, Mor;Rivolta, Carlo;Sharon, Dror
通讯作者：
Sharon, Dror
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
影响因子：
5.8
作者：
Choi, Yongwook;Chan, Agnes P.
通讯作者：
Chan, Agnes P.
影响因子：
3.8
作者：
Chiang, Shu-Chuan;Hwu, Wuh-Liang;Chien, Yin-Hsiu
通讯作者：
Chien, Yin-Hsiu
影响因子：
3.8
作者：
Labrousse, Paul;Chien, Yin-Hsiu;Hwu, Wuh-Liang
通讯作者：
Hwu, Wuh-Liang