In a new study, scientists have found novel mutations to be associated with chronic pancreatitis (inflammation of pancreas), reinforcing earlier observations that genetic susceptibility for the disease was different in Indians as compared to Americans and Europeans.
The study was conducted by the Centre for Cellular and Molecular Biology in collaboration with Asian Healthcare Foundation, Asian Institute of Gastroenterology, Department of Gastroenterology, SCB Medical College, Cuttack and Department of Gastroenterology, Medical College, Calicut.
According to Dr.Giriraj Ratan Chandak, lead author of the study, which was published in GUT online on May 12, the team at CCMB had been investigating chronic pancreatitis for more than 10 years and established earlier that the genetic basis for it was different among Indians. It was found that unlike in Americans and Europeans, mutations in trypsinogen, a gut enzyme, which digests the pancreas and causes pancreatitis, was not doing so in Indians.
Rather, mutations in an inhibitor or Cathepsin B (CTSB) which control the activation of pancreas, were found to be responsible for the condition among Indians.
In the latest study, a comprehensive analysis of chymotrypsin C (CTRC) gene was undertaken in 584 patients after genomic DNA was isolated from all the individuals.
A cohort of 598 ethnically matched individuals who had no complaints or evidence of pancreatitis were recruited as controls.
The scientists found seven novel mutations and observed that subjects with the variants were at a higher risk for chronic pancreatitis.
Dr. Chandak said the study revealed that the mutational spectrum of the disease in India was different from Europe and America. While there was no definite epidemiological data, it was estimated that chronic pancreatitis affects one in every 1600 people in the country.
The clinical picture of the disease too was different as it gets presented five to 10 years earlier among Indians as compared to those in the Western countries.
Similar was the case with diabetes, abdominal obesity, high blood pressure and cataract, all of which get manifested five to ten years earlier in Indians than in other groups.
He said the study brought out two important issues — that the genetic basis of diseases in Indians was different and needed to be investigated rather than extrapolating results from international studies.
Secondly, identification of these mutations would help in susceptibility screening and help develop therapeutic regimens or unique drug targets for Indians.