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.
Polymorphism
Type
CP () (%)
Cont () (%)
OR (95% CI) P value
ΔF508 genotypes
Wild (FF)
137 (91.3)
147 (98)
Reference
Heterozygous (FT)
13 (8.7)
03 (1.9)
4.65 (1.29–16.67) 0.020*
ΔF508 alleles
Wild 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 genotypes
Wild (GG)
140 (93.3)
147 (98)
Reference
Heterozygous (GT)
10 (6.7)
3 (2)
3.5 (0.94–12.98) 0.085
G542X alleles
Wild allele (G)
290 (97)
297 (99)
Reference
Mutant allele (T)
10 (3.3)
3 (1)
3.4 (0.929–12.53) 0.0925
G551D genotypes
Wild (GG)
141 (94)
146 (97.3)
Reference
Heterozygous (GA)
9 (6)
4 (2.7)
2.3 (0.70–7.74) 0.25
G551D alleles
Wild 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 genotypes
Wild (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 alleles
Wild 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 genotypes
Wild (GG)
147 (98)
149 (99.3)
Reference
Heterozygous (GA)
03 (2)
01 (0.66)
1.5 (0.847–2.690) 0.6225
S549N alleles
Wild 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 genotypes
Wild 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 alleles
Wild 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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