Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2021 Jul 2

PMID 34200080

Citations 10

Authors

Kyung-Sun Park

Affiliations

Soon will be listed here.

Abstract

To assess how genomic information of the general population reflects probabilities of developing diseases and the differences in those probabilities among ethnic groups, a general population database was analyzed with an example of congenital hypothyroidism. Twelve candidate genes that follow an autosomal recessive inheritance pattern in congenital hypothyroidism (, , , , , , , , , ) in the gnomAD database (v2.1.1) were analyzed. The carrier frequency (CF) and predicted genetic prevalence (pGP) were estimated. The total CF in the overall population was 3.6%. showed the highest CF (1.8%), followed by (0.46%), (0.44%), (0.31%), (0.144%), (0.141%), (0.08%), (0.06%), (0.059%), (0.059%), (0.04%), and (0%). The pGP in the overall population was 10.01 individuals per 100,000 births (1:9992). The highest pGP was in the East Asian population at 52.48 per 100,000 births (1:1905), followed by Finnish (35.96), Non-Finnish European (9.56), African/African American (4.0), Latino/Admixed American (3.89), South Asian (3.56), and Ashkenazi Jewish (1.81) groups. Comparing the pGP with the real incidence of congenital hypothyroidism, the pGP in East Asian populations was highly consistent with the real incidence.

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References

Deladoey J, Ruel J, Giguere Y, Van Vliet G . Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec. J Clin Endocrinol Metab. 2011; 96(8):2422-9. DOI: 10.1210/jc.2011-1073. View

Ghosh R, Oak N, Plon S . Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Biol. 2017; 18(1):225. PMC: 5704597. DOI: 10.1186/s13059-017-1353-5. View

Wassner A, Brown R . Congenital hypothyroidism: recent advances. Curr Opin Endocrinol Diabetes Obes. 2015; 22(5):407-12. DOI: 10.1097/MED.0000000000000181. View

Makretskaya N, Bezlepkina O, Kolodkina A, Kiyaev A, Vasilyev E, Petrov V . High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. PLoS One. 2018; 13(9):e0204323. PMC: 6150524. DOI: 10.1371/journal.pone.0204323. View

Sun F, Zhang J, Yang C, Gao G, Zhu W, Han B . The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. Eur J Endocrinol. 2018; 178(6):623-633. PMC: 5958289. DOI: 10.1530/EJE-17-1017. View

van Trotsenburg P, Stoupa A, Leger J, Rohrer T, Peters C, Fugazzola L . Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology. Thyroid. 2020; 31(3):387-419. PMC: 8001676. DOI: 10.1089/thy.2020.0333. View

Park K, Park H, Kim Y, Lee K, Park J, Park J . DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. Ann Lab Med. 2015; 36(2):145-53. PMC: 4713848. DOI: 10.3343/alm.2016.36.2.145. View

Lek M, Karczewski K, Minikel E, Samocha K, Banks E, Fennell T . Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016; 536(7616):285-91. PMC: 5018207. DOI: 10.1038/nature19057. View

Olivieri A, Fazzini C, Medda E . Multiple factors influencing the incidence of congenital hypothyroidism detected by neonatal screening. Horm Res Paediatr. 2015; 83(2):86-93. DOI: 10.1159/000369394. View

10.

Stoppa-Vaucher S, Van Vliet G, Deladoey J . Variation by ethnicity in the prevalence of congenital hypothyroidism due to thyroid dysgenesis. Thyroid. 2010; 21(1):13-8. PMC: 3012450. DOI: 10.1089/thy.2010.0205. View

11.

Peters C, van Trotsenburg A, Schoenmakers N . DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives. Eur J Endocrinol. 2018; 179(6):R297-R317. DOI: 10.1530/EJE-18-0383. View

12.

Medda E, Olivieri A, Stazi M, Grandolfo M, Fazzini C, Baserga M . Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). Eur J Endocrinol. 2005; 153(6):765-73. DOI: 10.1530/eje.1.02048. View

13.

Feuchtbaum L, Carter J, Dowray S, Currier R, Lorey F . Birth prevalence of disorders detectable through newborn screening by race/ethnicity. Genet Med. 2012; 14(11):937-45. DOI: 10.1038/gim.2012.76. View

14.

Stoupa A, Al Hage Chehade G, Chaabane R, Kariyawasam D, Szinnai G, Hanein S . High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis. Front Endocrinol (Lausanne). 2021; 11:545339. PMC: 7937947. DOI: 10.3389/fendo.2020.545339. View

15.

Hanany M, Allon G, Kimchi A, Blumenfeld A, Newman H, Pras E . Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population. Eur J Hum Genet. 2018; 26(8):1159-1166. PMC: 6057931. DOI: 10.1038/s41431-018-0152-0. View

16.

Karczewski K, Francioli L, Tiao G, Cummings B, Alfoldi J, Wang Q . The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020; 581(7809):434-443. PMC: 7334197. DOI: 10.1038/s41586-020-2308-7. View

17.

den Dunnen J, Dalgleish R, Maglott D, Hart R, Greenblatt M, McGowan-Jordan J . HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. 2016; 37(6):564-9. DOI: 10.1002/humu.22981. View

18.

Choi Y, Chan A . PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. Bioinformatics. 2015; 31(16):2745-7. PMC: 4528627. DOI: 10.1093/bioinformatics/btv195. View

19.

Shin J, Kim H, Kim Y, Lee H, Bae M, Park K . Genetic Evaluation of Congenital Hypothyroidism with Gland Using Targeted Exome Sequencing. Ann Clin Lab Sci. 2021; 51(1):73-81. View

20.

Abou Tayoun A, Pesaran T, DiStefano M, Oza A, Rehm H, Biesecker L . Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018; 39(11):1517-1524. PMC: 6185798. DOI: 10.1002/humu.23626. View