The Scientific World Journal / 2014 / Article / Tab 3

Research Article

Frequency of CFTR, SPINK1, and Cathepsin B Gene Mutation in North Indian Population: Connections between Genetics and Clinical Data

Table 3

Genotype and allele frequency of CFTR gene.

PolymorphismTypeCP ( ) (%)Cont ( ) (%)OR (95% CI) P value

ΔF508 genotypesWild (FF) 137 (91.3)147 (98)Reference
Heterozygous (FT)13 (8.7) 03 (1.9)4.65 (1.29–16.67) 0.020*

ΔF508 allelesWild allele (F)287 (95.7)297 (99)Reference
Mutant allele (T)13 (4.3)3 (1)4.4 (1.26–15.906) 0.022*

G542X genotypesWild (GG) 140 (93.3)147 (98)Reference
Heterozygous (GT)10 (6.7)3 (2)3.5 (0.94–12.98) 0.085

G542X allelesWild allele (G)290 (97)297 (99)Reference
Mutant allele (T)10 (3.3) 3 (1)3.4 (0.929–12.53) 0.0925

G551D genotypesWild (GG) 141 (94)146 (97.3)Reference
Heterozygous (GA)9 (6)4 (2.7)2.3 (0.70–7.74) 0.25

G551D allelesWild allele (G)291 (97)296 (98.6)Reference
Mutant allele (A)9 (3)4 (1.3)2.28 (0.69–7.51) 0.26

R117H genotypesWild (RR) 148 (98.6)149 (99.3)Reference
Heterozygous (RH)2 (1.33)1 (0.66)1.3 (0.597–2.98) 1.0

R117H allelesWild allele (R)298 (99.3)299 (99.6)Reference
Mutant allele (H)2 (0.66)1 (0.33)1.3 (0.597–2.98) 1.0

S549N genotypesWild (GG)147 (98)149 (99.3)Reference
Heterozygous (GA)03 (2)01 (0.66)1.5 (0.847–2.690) 0.6225

S549N allelesWild allele (G)297 (99)299 (99.6)Reference
Heterozygous (A)3 (1)1 (0.3)1.5 (0.849–2.666) 0.623

IVS8−Tn genotypesWild Type (7T/7T, 9T/7T, 9T/9T)138 (92)147 (98)Reference
Heterozygous (7T/5T, 9T/5T)11 (7.3)03 (2)3.90 (1.067–14.301) 0.03*
Mutant (5T/5T) 01 (0.66)0

IVS8−Tn allelesWild allele (7T, 9T)284 (94.6)297 (99)Reference
Mutant allele (5T) 13 (8.6)03 (1)1.9 (1.60–2.246) 0.003*

CP: chronic pancreatitis, Cont: control, *significant association ( ).

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