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. 2022 Jul 11;3(4):100130. doi: 10.1016/j.xhgg.2022.100130

Table 1.

Summary of African ancestry HTT disease and non-disease alleles

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).