Table 1.
Allele types | Allele structure nomenclature |
HTT repeat tract |
Allele occurrence |
Fisher exact test |
||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Q1 |
Q2 |
P1 |
P2 |
P3 |
Non-disease N = 384 |
Disease N = 68 |
||||||
CAG | CAACAG | CCGCCA | CCG | CCT | n | % | n | % | p values | |||
Typical alleles | Q1-2-2-6-2 | 14–17 | – | 2 | 2 | 6 | 2 | 11 | 2.9 | – | – | 0.384 |
Q1-2-2-7-2 | 15–28 | 41–55 | 2 | 2 | 7 | 2 | 99 | 25.8 | 10 | 14.7 | 0.064 | |
Q1-2-2-8-2 | 17 | – | 2 | 2 | 8 | 2 | 5 | 1.3 | – | – | 1 | |
Q1-2-2-9-2 | 15–28 | 40 | 2 | 2 | 9 | 2 | 29 | 7.6 | 1 | 1.5 | 0.066 | |
Q1-2-2-10-2 | 11–20 | 40–54 | 2 | 2 | 10 | 2 | 71 | 18.5 | 20 | 29.4 | 0.048 | |
Q1-2-2-11-2 | 12–21 | – | 2 | 2 | 11 | 2 | 18 | 4.7 | – | – | 0.089 | |
Q1-2-2-12-2 | 17 | – | 2 | 2 | 12 | 2 | 1 | 0.3 | – | – | 1 | |
∗Q1-2-2-13-2 | 17 | – | 2 | 2 | 13 | 2 | 1 | 0.3 | – | – | 1 | |
Typical alleles subtotal | 235 | 61.2 | 31 | 45.6 | ||||||||
Atypical alleles | Q1-2-2-4-3 | 23 | – | 2 | 2 | 4 | 3 | 1 | 0.3 | – | – | 1 |
Q1-2-2-6-3 | 15–23 | 42–44 | 2 | 2 | 6 | 3 | 2 | 0.5 | 4 | 5.9 | 5.587 × 10−3 | |
Q1-2-2-9-3 | 12–21 | – | 2 | 2 | 9 | 3 | 92 | 24.0 | – | – | 9.142 × 10−8 | |
Q1-2-2-10-3 | 16 | – | 2 | 2 | 10 | 3 | 1 | 0.3 | – | – | 1 | |
∗Q1-4-2-4-3 | – | 42 | 4 | 2 | 4 | 3 | – | – | 1 | 1.5 | 0.154 | |
Q1-4-2-7-3 | 14–19 | – | 4 | 2 | 7 | 3 | 22 | 5.7 | – | – | 0.059 | |
∗Q1-4-2-10-2 | 16–19 | – | 4 | 2 | 10 | 2 | 4 | 1.0 | – | – | 1 | |
Q1-2-0-9-2 | 16–32 | 40–58 | 2 | 0 | 9 | 2 | 27 | 7.0 | 30 | 44.1 | 3.119 × 10−13 | |
Q1-0-0-9-2 | – | 39–46 | 0 | 0 | 9 | 2 | – | – | 2 | 2.9 | 0.022 | |
Atypical alleles subtotal | 149 | 38.8 | 37 | 54.4 |
The novel allele structures unique to this study are indicated by an asterisk (∗). The most common non-disease and disease allele structures are indicated in underlined italics. The statistically significant frequency differences between the non-disease and disease alleles are indicated in italics (non-disease alleles: Q1-2-2-10-2 p = 0.048 and disease alleles: Q1-2-2-6-3 p = 5.587 × 10−3, Q1-2-2-9-3 p = 9.142 × 10−8 and Q1-2-0-9-2 p = 3.119 × 10−13).