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 (𝑛=150) (%)	Cont (𝑛=150) (%)	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 (𝑃<0.05).