Table E-1: Genotype and carrier distribution in three cohorts and ranked severity scores stratified by gender in the combined cohort

Marker / Genotype / 1991 / 2000 / Combined cohort
Total / Women / Men
N / % / N / % / N* / % / RSS / SD / p / N* / % / RSS / SD / p / N* / % / RSS / SD / p
5’(-491) / AA / 86 / 70.5 / 134 / 71.7 / 138 / 71.5 / 5.89 / 2.02 / 0.105 / 96 / 71.1 / 6.14 / 2.02 / 0.109 / 42 / 72.4 / 5.33 / 1.91 / **
AT / 34 / 27.9 / 51 / 27.3 / 52 / 26.9 / 6.46 / 1.88 / 36 / 26.7 / 6.72 / 1.63 / 16 / 27.6 / 5.88 / 2.31
TT / 2 / 1.6 / 2 / 1.1 / 3 / 1.6 / 4.67 / 2.08 / 3 / 2.2 / 4.67 / 2.08 / 0 / 0

A

/ 120 / 98.4 / 185 / 98.9 / 190 / 98.4 / 6.05 / 1.99 / 0.236 / 132 / 97.8 / 6.30 / 1.94 / 0.153 / 58 / 100 / 5.48 / 2.02 / 0.366
T / 36 / 29.5 / 53 / 28.3 / 55 / 28.5 / 6.36 / 1.92 / 0.138 / 39 / 28.9 / 6.56 / 1.73 / 0.248 / 16 / 27.6 / 5.88 / 2.31 / 0.366
5’(-427) / TT / 99 / 81.1 / 143 / 76.5 / 148 / 76.7 / 6.11 / 1.97 / 0.534 / 106 / 78.5 / 6.35 / 1.88 / 0.577 / 42 / 72.4 / 5.52 / 2.09 / **
TC / 21 / 17.2 / 43 / 23.0 / 42 / 21.8 / 5.74 / 1.98 / 26 / 19.3 / 5.96 / 2.03 / 16 / 27.6 / 5.38 / 1.89
CC / 2 / 1.6 / 1 / 0.5 / 3 / 1.6 / 5.67 / 3.79 / 3 / 2.2 / 5.67 / 3.79 / 0 / 0
T / 120 / 98.4 / 186 / 99.5 / 190 / 98.4 / 6.03 / 1.97 / 0.754 / 132 / 97.8 / 6.27 / 1.91 / 0.596 / 58 / 100 / 5.48 / 2.02 / 0.804
C / 23 / 18.9 / 44 / 23.5 / 45 / 23.3 / 5.73 / 2.07 / 0.263 / 29 / 21.5 / 5.93 / 2.17 / 0.307 / 16 / 27.6 / 5.38 / 1.89 / 0.804
5’(-291) / TT / 16 / 13.1 / 24 / 12.9 / 24 / 12.5 / 6.08 / 2.21 / 0.991 / 14 / 10.4 / 6.21 / 2.42 / 0.848 / 10 / 17.2 / 5.90 / 1.97 / 0.544
TG / 64 / 52.5 / 108 / 58.1 / 111 / 57.8 / 6.04 / 2.04 / 80 / 59.7 / 6.21 / 1.95 / 31 / 53.4 / 5.58 / 2.22
GG / 42 / 34.4 / 54 / 29.0 / 57 / 29.7 / 6.02 / 1.85 / 40 / 29.9 / 6.43 / 1.78 / 17 / 29.3 / 5.06 / 1.68
T / 80 / 65.6 / 132 / 71.0 / 135 / 70.3 / 6.04 / 2.06 / 0.932 / 94 / 70.1 / 6.21 / 2.02 / 0.565 / 41 / 70.7 / 5.66 / 2.14 / 0.308
G / 106 / 86.9 / 162 / 87.1 / 168 / 87.5 / 6.03 / 1.97 / 0.902 / 120 / 89.6 / 6.28 / 1.89 / 0.900 / 48 / 82.8 / 5.40 / 2.04 / 0.478
E4 / 2&2 / 1 / 0.8 / 2 / 1.1 / 3 / 1.6 / 5.67 / 2.89 / NA / 2 / 1.7 / 6.50 / 3.54 / NA / 1 / 1.8 / 4.00 / NA / NA
3&3 / 66 / 55.9 / 95 / 53.4 / 101 / 54.6 / 5.68 / 1.97 / 0.022 / 71 / 59.2 / 5.86 / 1.97 / 0.028 / 30 / 54.5 / 5.27 / 1.93 / 0.380
4&4 / 0 / 0.0 / 2 / 1.1 / 2 / 1.1 / 5.50 / 2.12 / NA / 1 / 0.8 / 4.00 / NA / NA / 1 / 1.8 / 7.00 / NA / NA
2&3 / 19 / 16.1 / 30 / 16.9 / 29 / 15.7 / 6.52 / 2.01 / 0.122 / 23 / 19.2 / 7.00 / 1.86 / 0.029 / 6 / 10.3 / 4.67 / 1.51 / NA
2&4 / 4 / 3.4 / 12 / 6.7 / 12 / 6.5 / 6.75 / 1.96 / NA / 9 / 7.5 / 6.89 / 2.03 / NA / 3 / 5.2 / 6.33 / 2.08 / NA
3&4 / 28 / 23.7 / 37 / 20.8 / 38 / 20.5 / 6.21 / 1.97 / 0.446 / 24 / 20.0 / 6.25 / 1.65 / 0.890 / 14 / 24.1 / 6.14 / 2.51 / 0.171
2 / 24 / 20.3 / 44 / 24.7 / 44 / 23.7 / 6.52 / 2.02 / 0.042 / 34 / 28.3 / 6.94 / 1.92 / 0.009 / 10 / 17.2 / 5.10 / 1.73 / 0.511
3 / 113 / 95.8 / 162 / 91.0 / 168 / 90.8 / 5.95 / 1.99 / 0.362 / 118 / 98.3 / 6.16 / 1.93 / 0.476 / 50 / 86.2 / 5.44 / 2.08 / 0.566
4 / 32 / 27.1 / 51 / 28.7 / 52 / 28.1 / 6.31 / 1.96 / 0.176 / 34 / 28.3 / 6.35 / 1.77 / 0.596 / 18 / 31.0 / 6.22 / 2.32 / 0.065

NA= not applicable due to small numbers, RSS= mean ranked severity score

* N represents the number of patients whose genotype and severity scores were available

** Genotype analysis not done due to lack of homozygotes in men. Otherwise p values represent the overall genotype analysis except for exon-4 polymorphism, where p values represent comparisons of individuals with the genotype compared to those without. For alleles, p values represent comparisons of carriers versus non-carriers.

For additional information contact Dr. Brian G. Weinshenker at