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.
| Polymorphisms | Type | CP () (%) | Cont () (%) | OR (95% CI) P value |
| 101A>G genotypes | Wild (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 alleles | Wild 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 genotypes | Wild (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 alleles | Wild 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 genotypes | Wild (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 alleles | Wild 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* |
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CP: chronic pancreatitis, Cont: control, *significant association ().
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