Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Article
  • Published:

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population

Journal of Human Genetics volume 69, pages 115–118 (2024)Cite this article

Subjects

Abstract

Carrier screening is important to people have a higher prevalence of severe recessive or X-linked genetic conditions. This study is aimed that the frequency and uncertain nature of genetic variants was identified in Taiwanese population, providing individuals with information at risk of inherited diseases and their heritability to newborns. A total of 480 subjects receiving genetic counseling with no family history of inherited disorders were recruited into a cohort from 2018 to 2022. Next-generation sequencing (NGS) panel for autosomal dominant (AD), autosomal recessive (AR) and X-linked diseases was sequenced to assess disease prevalence and carrier frequency for the targeted diseases. Publicly available NGS datasets were analyzed following a tier-based system and ACMG recommendation. 5.3% of subjects showed the presence of variants for genetic disorder, and 2.3% of them were determined with AD. 14 of subjects with pathogenic variants were carriers for AR. The inherited genes were LDLR for AD disorders and AR disorders included GAA and ATP7B. 21.6% of subjects had highest carrier frequency of GJB2 gene. 0.5% of subjects had highest frequency of GJB6 for AR condition. In conclusions, the variants in LDLR, GAA and ATP7B genes were identified in Taiwanese population, indicating individuals had higher risk of Pompe disease, Wilson’s disease and familial hypercholesterolemia. Taiwanese individuals carrying GJB2 and GJB6 had the considerable risk of hearing loss passing to their offspring.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

Data availability

Data analyzed during this study are included in this published article.

References

  1. Hallam S, Nelson H, Greger V, Perreault-Micale C, Davie J, Faulkner N, et al. Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing. J Mol Diagn. 2014;16:180–9.

    Article  CAS  PubMed  Google Scholar 

  2. Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwaser T, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:1793–806.

    Article  PubMed  PubMed Central  Google Scholar 

  3. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022;24:1407–14.

    Article  CAS  PubMed  Google Scholar 

  5. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017;129:e41–e55.

  6. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267–88.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Turaça LT, de Faria DO, Kyosen SO, Teixeira VD, Motta FL, Pessoa JG, et al. Novel GAA mutations in patients with Pompe disease. Gene. 2015;561:124–31.

    Article  PubMed  Google Scholar 

  8. Aung-Htut MT, Ham KA, Tchan MC, Fletcher S, Wilton SD. Novel mutations found in individuals with adult-onset Pompe disease. Genes (Basel). 2020;11:135.

    Article  CAS  PubMed  Google Scholar 

  9. Joo YS, Kim HW, Lee S, Nam KH, Yun HR, Jhee JH, et al. Dietary zinc intake and incident chronic kidney disease. Clin Nutr. 2021;40:1039–45.

    Article  CAS  PubMed  Google Scholar 

  10. Kuo CW, Hwu WL, Chien YH, Hsu C, Hung MZ, Lin IL, et al. Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. Mol Genet Genom Med. 2020;8:e1455.

    Article  CAS  Google Scholar 

  11. Kamar A, Khalil A, Nemer G. The digenic causality in familial hypercholesterolemia: revising the genotype-phenotype correlations of the disease. Front Genet. 2020;11:572045.

    Article  CAS  PubMed  Google Scholar 

  12. Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, et al. GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet. 2005;77:945–57.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Kiseleva AV, Klimushina MV, Sotnikova EA, Divashuk MG, Ershova AI, Skirko OP, et al. A data-driven approach to carrier screening for common recessive diseases. J Pers Med. 2020;10:140.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Luo H, Yang Y, Wang X, Xu F, Huang C, Liu D, et al. Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province. Front Pediatr. 2022;10:1020519.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, et al. Benefits of exome sequencing in children with suspected isolated hearing loss. Genes (Basel). 2021;12:1277.

    Article  PubMed  Google Scholar 

  16. Kuo CN, Liao YM, Kuo LN, Tsai HJ, Chang WC, Yen Y. Cancers in Taiwan: practical insight from epidemiology, treatments, biomarkers, and cost. J Formos Med Assoc. 2020;119:1731–41.

    Article  CAS  PubMed  Google Scholar 

  17. Lewandowska A, Rudzki G, Lewandowski T, Stryjkowska-GĂłra A, Rudzki S. Risk factors for the diagnosis of colorectal cancer. Cancer Control. 2022;29:10732748211056692.

    Article  PubMed  PubMed Central  Google Scholar 

  18. Yu J, Feng Q, Kim JH, Zhu Y. Combined effect of healthy lifestyle factors and risks of colorectal adenoma, colorectal cancer, and colorectal cancer mortality: systematic review and meta-analysis. Front Oncol. 2022;12:827019.

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Shin Kong Wu Ho Su Memorial Hospital, Taipei, Taiwan

    Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh & Yi Ping Li

  2. Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

    Yi Ping Li

  3. School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan

    Yi Ping Li

Authors
  1. Li Shan Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Cheng Wei Yu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Wei Jiun Li
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Wen Chi Hsieh
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Yi Ping Li
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Yi Ping Li.

Ethics declarations

Competing interests

The authors declare no competing interests.

Ethics approval

The designation of the study followed the Declaration of Helsinki, and the studying protocol was reviewed and approved by Department of Obstetrics and Gynecology, Shin Kong Wu Ho-Su Memorial Hospital (IRB number: 20230403 R). A signed informed consent was obtained from all participants.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Chen, L.S., Yu, C.W., Li, W.J. et al. Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. J Hum Genet 69, 115–118 (2024). https://doi.org/10.1038/s10038-023-01212-7

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s10038-023-01212-7

Search

Advanced search

Quick links