Table 2 Distribution of cathepsin B gene polymorphisms in tropical calcific pancreatitis patients and controls.
| Region | Polymorphism‡ | rs number | AA change‡ | Mutant allele frequency¶ | |
|---|---|---|---|---|---|
| Patients (n = 51) | Controls (n = 25) | ||||
| Exon 1* | C14609A† | – | 0.02 | 0.00 | |
| Intron 1* | G14520C† | – | 0.02 | 0.00 | |
| G14453A† | – | 0.02 | 0.00 | ||
| C14425A | rs1293311 | – | 0.39 | 0.42 | |
| T11083C | rs2645415 | – | 0.08 | 0.15 | |
| Exon 2* | C10927G† | – | 0.02 | 0.00 | |
| Exon 3 | C76G | rs4292649 | Leu26Val | 0.46 | 0.30 |
| Intron 3 | A335T | rs1293293 | – | 0.13 | 0.20 |
| G394A† | – | 0.02 | 0.00 | ||
| C595T | rs1293292 | – | 0.12 | 0.20 | |
| T663C | rs1293291 | – | 0.51 | 0.60 | |
| Exon 4 | A790G† | Ser53Gly | 0.09 | 0.04 | |
| Intron 5 | C2609T | rs2272766 | – | 0.41 | 0.30 |
| Exon 6 | A4383C | rs13332 | Thr140Thr | 0.55 | 0.60 |
| Intron 6 | G4451C† | – | 0.09 | 0.04 | |
| A4735G | rs1736090 | – | 0.41 | 0.38 | |
| Intron 7 | C5516T | rs1692819 | – | 0.10 | 0.16 |
| C5522A | rs2294139 | – | 0.38 | 0.30 | |
| 5581–5582 (in/del) | rs3215434 | – | 0.49 | 0.52 | |
| C5622G† | – | 0.40 | 0.48 | ||
| Intron 8 | G5825A | rs2294138 | – | 0.40 | 0.33 |
| Exon 11 | C8370G | rs709821 | – | 0.09 | 0.15 |
| A8422G | rs8898 | – | 0.42 | 0.37 | |
AA, amino acid; n, number of individuals.
*Region from exon 1 to 2 forms part of the 5′ untranslated region.
†Novel polymorphisms.
‡Nomenclature is represented as wild status‐position‐mutant status.
¶Denotes the mutant allele as per NCBI sequence Accession No NT_077531 and transcript id = “NM_147782.1”.