Table 2.

Estimated prevalence of hTTP using only 140 pathogenic reported variants

PopulationTotal number of allelesTotal number of homozygoteTotal number of affected allelesCollective frequency of variants∗ Heterozygote frequencyPrevalence in 106 individualsCarrier prevalence in 100 individuals† 
All 1 614 324 15 7795 0.005 0.010 23 1.0 
African/African American 75 090 0 179 0.002 0.005 6 0.5 
Admixed American 60 038 1 261 0.004 0.009 19 0.9 
Ashkenazi Jewish 29 608 0 25 0.001 0.002 0.7 0.2 
East Asian 44 896 1 294 0.006 0.013 42 1.3 
Finnish 64 052 2 360 0.006 0.011 32 1.1 
Middle Eastern 6 062 0 6 0.001 0.002 1 0.2 
European (non-Finnish) 1 180 062 10 6240 0.005 0.011 28 1.1 
South Asian 91 092 1 187 0.002 0.004 4 0.4 
Remaining 63 424 0 243 0.004 0.008 15 0.8 
PopulationTotal number of allelesTotal number of homozygoteTotal number of affected allelesCollective frequency of variants∗ Heterozygote frequencyPrevalence in 106 individualsCarrier prevalence in 100 individuals† 
All 1 614 324 15 7795 0.005 0.010 23 1.0 
African/African American 75 090 0 179 0.002 0.005 6 0.5 
Admixed American 60 038 1 261 0.004 0.009 19 0.9 
Ashkenazi Jewish 29 608 0 25 0.001 0.002 0.7 0.2 
East Asian 44 896 1 294 0.006 0.013 42 1.3 
Finnish 64 052 2 360 0.006 0.011 32 1.1 
Middle Eastern 6 062 0 6 0.001 0.002 1 0.2 
European (non-Finnish) 1 180 062 10 6240 0.005 0.011 28 1.1 
South Asian 91 092 1 187 0.002 0.004 4 0.4 
Remaining 63 424 0 243 0.004 0.008 15 0.8 
∗

Collective frequency of variant is calculated as the total number of affected alleles divided to total number of alleles.

†

Carrier prevalence is calculated from heterozygote frequency multiplied by 100. Prevalence is calculated according to Hardy-Weinberg principle.

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