loading page

Analysis of worldwide carrier frequency and predicted genetic prevalence of congenital hypothyroidism based on a general population database
  • Kyung Sun Park
Kyung Sun Park
Kyung Hee University School of Medicine
Author Profile


Background: 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. Methods: Ten candidate genes that follow an autosomal recessive inheritance pattern in congenital hypothyroidism (SLC5A5, TPO, TG, IYD, DUOXA2, DUOX2, TSHR, TSHB, TRHR, FOXE1) in the gnomAD database (v2.1.1) were analyzed. The carrier frequency (CF) and predicted genetic prevalence (pGP) were estimated. Results: The total CF in the overall population was 2.9%. DUOX2 showed the highest CF (1.46%), followed by TG (0.47%), TPO (0.42%), TSHR (0.16%), DUOXA2 (0.15%), IYD (0.08%), TRHR (0.07%), SLC5A5 (0.07%), TSHB (0.04%), and FOXE1 (0%). The pGP in the overall population was 6.57 individuals per 100.000 births (1:15,216). The highest pGP was in the East Asian group at 44.65 per 100,000 births (1:2,240), followed by Finnish (14.21), other (5.99), Non-Finnish European (5.96), African (3.80), South Asian (3.07), Latino (2.99), and Ashkenazi Jewish (1.52) groups. Conclusion: The feasibility of genetic screening for congenital hypothyroidism may be determined by ethnicity. Comparing the pGP with the real prevalence of congenital hypothyroidism indicates that genetic screening in East Asian may be feasible.