POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.
复制标题
人口重复扩张的频率表明不同人群的疾病患病率估计有所增加。
DOI：
10.1101/2023.07.03.23292162
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
GenomicsEnglandResearchCo
中科院分区：
文献类型：
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作者：
Ibañez,Kristina;Jadhav,Bharati;Facchini,Stefano;Garg,Paras;Zanovello,Matteo;Martin-Trujillo,Alejandro;Gies,ScottJ;Deforie,ValentinaGalassi;Gagliardi,Delia;Hensman,Davina;Moutsianas,Loukas;Shoai,Maryam;GenomicsEnglandResearchCo
Repeat expansion disorders (REDs) are a devastating group of predominantly neurological diseases. Together they are common, affecting 1 in 3,000 people worldwide with population-specific differences. However, prevalence estimates of REDs are hampered by heterogeneous clinical presentation, variable geographic distributions, and technological limitations leading to under-ascertainment. Here, leveraging whole genome sequencing data from 82,176 individuals from different populations we found an overall carrier frequency of REDs of 1 in 340 individuals. Modelling disease prevalence using genetic data, age at onset and survival, we show that REDs are up to 3-fold more prevalent than currently reported figures. While some REDs are population-specific, eg Huntington disease type 2, most REDs are represented in all broad genetic ancestries, including Africans and Asians, challenging the notion that some REDs are found only in European populations. These results have worldwide implications for local and global health communities in the diagnosis and management of REDs both at local and global levels.
