Table 2.
CATT5–7 Repeat Allele Carrier Frequencies (rs3063368) | |||
N Carriers | % | Allele Frequency (Europe) % 1 | |
CATT5 | 488 | 43.7 | - * |
CATT6 | 957 | 85.8 | 84.3 |
CATT7 | 277 | 24.8 | 24.9 |
G>C SNP Genotype Frequencies (rs755622) | |||
N Genotypes | % | Allele Frequency (Europe) % 1 | |
GG (homozygous) | 762 | 68.3 | 65.2 |
GC (heterozygous) | 328 | 29.4 | 31.7 |
CC (homozygous) | 26 | 2.3 | 3.1 |
Individual Genotype Combination Frequencies (rs3063368 & rs755622) | |||
N | % | ||
CATT5,5-GG | 68 | 6.1 | |
CATT 5,6-GG | 329 | 29.5 | |
CATT 6,6-GG | 360 | 32.3 | |
CATT 5,7-GG | 2 | 0.2 | |
CATT 6,7-GG | 3 | 0.3 | |
CATT 5,5-CG | 3 | 0.3 | |
CATT 5,6-CG | 16 | 1.4 | |
CATT 6,6-CG | 63 | 5.6 | |
CATT 5,7-CG | 69 | 6.2 | |
CATT 6,7-CG | 176 | 15.8 | |
CATT 7,7-CG | 1 | 0.1 | |
CATT 5,7-CC | 1 | 0.1 | |
CATT 6,7-CC | 10 | 0.9 | |
CATT 7,7-CC | 15 | 1.3 | |
All | 1116 | 100.00 |
The most frequent genotypes observed were CATT 5,6-GG (29.5%), CATT 6,6-GG (32.3%), and CATT 6,7-CG (15.8%). The frequency of the polymorphisms was comparable to the frequency in the general reference population (Europe) 1; SNP, Single nucleotide polymorphism; CATT7, patients carrying at least one CATT7 allele. Data presented as absolute numbers and percentage. 1 calculated from reference gnomAD Database (including >7500 genomes from unrelated non-Finnish European individuals sequenced as part of various population genetic studies) [20]. * As CATT5 is the wildtype allele, there is no information regarding CATT5 in the gnomAD Database.