Skip to main content
. 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 3.

Initial 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)		 S Allele
(T2313A)		 17580 CFLD AA 90 88.2 ATc 12 11.8 TTd 0 0.0 102 0.16 1.59 (0.83,3.05)
no CFLD AA 619 92.6 ATc 49 7.3 TTd 1 0.1 669
Z allele
(G4627A)		 28929474 CFLD GG 110 88.7 AGe 14 11.3 AAf 0 0.0 124 3.3×10−6g 4.72 (2.31,9.61)
no CFLD GG 741 97.4 AGe 20 2.6 AAf 0 0.0 761
ACE
(MIM: 106180)		 D/I deletion
(T2313A)		 N/A CFLD DD 43 35.0 DI 54 43.9 II 26 21.1 123 0.45 1.11 (0.85,1.44)
no CFLD DD 250 37.3 DI 300 44.7 II 121 18.0 671
GSTP1
(MIM: 134660)		 (A1375G) 1695 CFLD AA 40 41.7 AG 41 42.7 GG 15 15.6 96 0.32 1.17 (0.86,1.61)
no CFLD AA 316 43.7 AG 331 45.8 GG 76 10.5 723
MBL2
(MIM: 154545)		 O N/A CFLD AA 69 59.0 AO 42 35.9 OO 6 5.1 117 0.92 0.98 (0.70,1.38)
no CFLD AA 384 57.9 AO 248 37.4 OO 31 4.7 663
XA/O N/A CFLD Other 95 82.6 XA/O 14 12.2 O/O 6 5.2 115 0.50 1.14 (0.78,1.65)
no CFLD Other 567 85.5 XA/O 65 9.8 O/O 31 4.7 663
TGFB1
(MIM: 190180)		 Promoter
(C-509T)		 1800469 CFLD CC 44 39.6 CT 52 46.9 TT 15 13.5 111 0.014 1.45 (1.07,1.95)
no CFLD CC 413 49.6 CT 356 42.7 TT 64 7.7 833
Codon 10
(C29T)		 1800470 CFLD TT 33 29.5 CT 54 48.2 CC 25 22.3 112 2.8×10−3h 1.53 (1.16,2.03)
no CFLD TT 343 40.7 CT 390 46.4 CC 109 12.9 842
Codon 25
(G74C)		 1800471 CFLD GG 93 83.8 GC 18 16.2 CC 0 0.0 111 0.71 1.10 (0.66,1.85)
no CFLD GG 592 85.9 GC 92 13.4 CC 5 0.7 689
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

AT is the heterozygous form

d

TT is the homozygous form of the S allele.

e

AG is the heterozygous form

f

AA is the homozygous form of the Z allele.

g

Bonferroni-corrected p-value = 3.0×10−5.

h

Bonferroni-corrected p-value = 0.025.