Distribution of carrier frequency and predicted genetic prevalence in each ethnic group
The total CF for all 10 candidate genes in the overall population was 2.9% (Figure 2A). This means that unaffected carriers among 10 candidate genes are predicted to be 2.9%. Among the 8 ethnic groups, the East Asian population showed the highest total CF (6.2%), followed by other (3.2%), Finnish (3.2%), Non-Finnish European (2.8%), African (2.4%), Latino (2.1%), South Asian (1.8%), and Ashkenazi Jewish (1.4%). In the Ashkenazi Jewish group, any presumed PLPV in IYDand all 4 genes (TSHR , TSHB , TRHR, FOXE1 ) associated with thyroid dysgenesis were not found. In the overall population, of the 10 candidate genes, 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%), andFOXE1 (0%). Interestingly, the distribution of the proportion of genes in the East Asian group was unique: DUOX2 (3.96%) > DUOXA2 (1.06%) > TPO (0.56%) > TG (0.50%) > SLC5A5 (0.16%) > TSHR (0.04%) > TRHR (0.03%) > TSHB (0.01%) > IYD (0.01%).
Overall, the pGP caused by 10 candidate genes in the total population was 6.57 individuals per 100.000 births (1:15,216) (Figure 2B). The pGP of the East Asian group was 44.65 per 100,000 births (1:2,240), followed by Finnish (14.21 per 100,000 births, 1:7039), other (5.99 per 100,000 births, 1:16,683), Non-Finnish European (5.96 per 100,000 births, 1:16,762), African (3.80 per 100,000 births, 1:26,283), South Asian (3.07 per 100,000 births, 1:32,575), Latino (2.99 per 100,000 births, 1:33,453), and Ashkenazi Jewish (1.52 per 100,000 births, 1:65,972).