Table 1 Summary of HTT CAG repeat size characteristics in the study cohorts.

From: Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome

Group of individuals

Sum of CAG repeats (mean ± SD)

Fraction (%) of individuals with 27–35 CAG repeats

Mean somatic EI value

Lund cohort

 Controls

36.84 ± 4.4

1/19 (5.3)

NA

 MLH1

37.75 ± 6.3

1/12 (8.3)

NA

 MSH2

37.93 ± 5.8

1/15 (6.7)

NA

 MSH6

36.95 ± 4.0

0/21

NA

Bochum cohort

 Controls

36.89 ± 4.5

29/559 (5.2)

0.131

  Without IA

36.34 ± 4.0

0/530

0.116

 MLH1

35.40 ± 3.6*

1/60 (1.7)

0.099

  Without IA

35.19 ± 3.2**

0/59

0.096

 MSH2

36.41 ± 5.2

3/88 (3.4)

0.122

 MSH6

36.17 ± 4.2

1/23 (4.4)

0.100

  1. The mean sum of HTT CAG repeats, the fraction of individuals with HTT intermediate alleles (27–35 CAG repeats), and the mean somatic expansion index (EI) value in the MLH1, MSH2 and MSH6 Lynch syndrome subgroups and controls in the Lund cohort and Bochum cohort, respectively, are shown. SD, standard deviation. NA, not analyzed. IA, individuals with HTT intermediate alleles. *P = 0.014 for MLH1 subgroup/controls. **P = 0.031 for MLH1 subgroup without IA/controls without IA.
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