"SPINK1 gene polymorphisms in chronic pancreatitis: An epidemiological study in Punjab.” (DST/SSTP/Punjab/09/105)"
23595 subjects (with age range 18-75 years) of fourteen villages of kharar block of Mohali district were screened. Genomic DNA from whole blood of 602 adults (271 males & 331 females) were collected and analyzed for polymorphisms of different genes (SPINK1, PRSS1 and ADH3) using RFLP technique.
SPINK1 (serine peptidase inhibitor, Kazal type 1) gene encodes a trypsin inhibitor. It is thought to have role in inhibition of trypsin-catalyzed, zymogens activation within pancreas. Mutations in this gene may be linked with pancreatitis. PRSS1 (protease, serine, 1 (trypsin 1) gene encodes an enzyme called cationic trypsinogen. This enzyme is a serine peptidase that cleaves other proteins into smaller pieces. Mutations in PRSS1 gene may also be associated with pancreatitis. ADH3 (Alcohol Dehydrogenase) gene encodes class I alcohol dehydrogenase, gamma subunit, which is a member of alcohol dehydrogenase family. These occur in many organisms and help in inter-conversion between alcohols and aldehydes.
In the present study, SPINK1 N34S mutation was observed in 7 out of 597(1.17%) controls and 1 out of 5 (20%) chronic pancreatitis patients. RFLP of 597 controls and 5 CP patients was done for PRSS1 and only single band of size 911 bp was visible in these subjects, which represented the normal allele in all subjects. Percentage of ADH3*1/*1 genotypic distribution was more than ADH3*1/*2 and ADH3*2/*2 in controls as well as CP patients.
Thus, reference values of different genes (SPINK1, PRSS1 and ADH3) have been established in healthy individuals of particular area in Punjab (fourteen villages of kharar block of Mohali district). These values can be used in future to compare the polymorphisms of these genes in diseased conditions such as chronic pancreatitis.