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. Author manuscript; available in PMC: 2013 Jul 15.
Published in final edited form as: JAMA. 2009 Sep 9;302(10):1076–1083. doi: 10.1001/jama.2009.1295

Table 5.

Replication study: Prevalence of polymorphic genotypes according to CF patients with (CFLD) and without (no CFLD) severe liver disease

Gene Variant SNP rs# Status of
liver
disease		 Geno
type		 Patients
with
genotype		 Geno
type		 Patients
with
genotype		 Geno
type		 Patients
with
genotype		 Number
of patients
genotyped		 P value a OR (95% CI) b
# % # % # %
SERPINA1
(MIM: 107400)		 Z allele
(G4627A)		 28929474 CFLD GG 127 93.4 AGc 9 6.6 AAd 0 0.0 136 1.4×10−3e 3.42 (1.54,7.59)
no CFLD GG 1062 98.0 AGc 22 2.0 AAd 0 0.0 1084
TGFB1
(MIM: 190180)		 Codon 10
(C29T)		 1800470 CFLD TT 51 38.1 CT 62 46.2 CC 21 15.7 134 0.96 1.01 (0.77,1.31)
no CFLD TT 290 38.3 CT 349 46.1 CC 118 15.6 757
a

All P values were calculated using Cochran-Armitage Trend test of comparisons of the genotypes.

b

Odds ratio (OR) for each additional copy of the minor allele with 95% confidence interval (CI).

c

AG is the heterozygous form

d

AA is the homozygous form of the Z allele

e

Bonferroni-corrected p-value = 2.8×10−3.