Research Article

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

Table 1

Genotype and allele frequency of SPINK1 gene polymorphisms.

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

101A>G genotypesWild (AA) 83 (55.3)147 (98)Reference
Heterozygous (AG) 62 (41.3) 03 (2)36.60 (11.13–120.29)  0.001*
Mutant (GG)05 (3.3)0 19.43 (1.06–356.05) 0.006*

101A>G allelesWild allele (A)228 (76)297 (99)Reference
Mutant allele (G)72 (24)3 (1)31.26 (9.72–100.53) 0.001*

IVS3+2T>C genotypesWild (TT) 140 (93.3)149 (99.3)Reference
Heterozygous (TC)10 (6.7)1 (0.67)10.6 (1.34–84.26) 0.014*

IVS3+2T>C allelesWild allele (T)290 (96.7)299 (99.7)Reference
Mutant allele (C)10 (3.3)1 (0.3)10.3 (1.31–81.0) 0.014*

IVS1−37T>C genotypesWild (TT) 139 (92.7)149 (99.3)Reference
Heterozygous (TC)11 (7.3)1 (0.67)11.38 (1.45–88.75) 0.008*

IVS1−37T>C allelesWild allele (T)289 (96.3)299 (99.7)Reference
Mutant allele (C)11 (3.7)1 (0.3)11.38 (1.45–88.7) 0.008*

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