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Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach

Title
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach
Author
김영은
Keywords
PHENOTYPE CORRELATION; BLOOD SPOTS; ATP7B GENE; MUTATIONS; IDENTIFICATION; CERULOPLASMIN; GENOTYPE; JAPANESE
Issue Date
2017-05
Publisher
NATURE PUBLISHING GROUP
Citation
JOURNAL OF HUMAN GENETICS, v. 62, no. 9, page. 815-818
Abstract
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c. 2333G> T (p.Arg778Leu), c.2621C> T (p.Ala874Val), c.3086C> T (p.Thr1029Ile), c.3247C> T (p.Leu1083Phe), c.3556G> A (p.Gly1186Ser) and c.3809A> G (p.Asn1270Ser). We also retrospectively reviewed data from 1090 individuals with various indications other than WD for whom whole-exome or panel sequencing data were available. Mutant allele frequency based on the six most common mutations was 0.0067 among the total of 14 835 DBSs screened. Given that these six mutations account for 58.3% of mutations in Korean WD patients, the corrected mutant allele frequency is 0.0115 (95% confidence interval (CI): 0.0103-0.0128). Corresponding incidence (q(2)) and carrier frequency (2pq) were estimated to be 1: 7561 and 1: 44, respectively. In retrospective data analysis of 1090 control individuals, allele frequency of pathogenic or likely pathogenic variants was 0.0096 (95% CI: 0.0063-0.0146). Corresponding carrier frequency was estimated to be 1: 53. Estimated allele and carrier frequencies based on DNA screening were relatively higher than those reported previously based on clinical ascertainment.
URI
https://www.nature.com/articles/jhg201749https://repository.hanyang.ac.kr/handle/20.500.11754/114014
ISSN
1434-5161; 1435-232X
DOI
10.1038/jhg.2017.49
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > MEDICINE(의학과) > Articles
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