Genetics

Genetics

The importance of investigating genetic perturbations in diseased individuals is highlighted by the fact that many such alterations, in form of single nucleotide polymorphisms (SNP), would be inherited by the offsprings of the diseased individual. Capturing such information would develop a resource base that could be used to understand the disease or treat the patients of the next generation more effectively. Keeping this larger interest of the society and to better the treatment options, ILBS initiated genetics services in 2011. ILBS is amongst a handful of hospitals in the country that undertake genetic investigations for liver diseases. Genetics is an indispensible field for disease related research. More than 3600 patients have been screened for genetic disorders leading to liver diseases since then. With rapid pace of research new genes are being identified that correlate with liver diseases eventually resulting in the increase in the number of patients that are now being screened for liver disorders. This number jumped over 1100 in the year 2016.

The department also provides scientific and technical inputs to clinical and research faculties , fellows, students and staff to meet their research targets. The Department has also initiated the tests for galactosemia (GALS), dependency on alcohol (GAL9) and cholesterol ester storage disease (CESD), which will be introduced in the coming year. Standardization is in process of extended KRAS mutations for colorectal cancers. The Department of Genetics provides single nucleotide polymorphism (SNP) analysis for the following diseases:

  • IL28B – Mutation in this gene is associated with poor immune response during HCV infection.
  • ITPA – Associated with increased risk of anemia in HCV patients on ribavarin treatment.
  • TATA box – Polymorphism in the promoter region of UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) results in a defective enzyme leading increased unconjugated bilirubin in circulation.
  • MTHFR, Factor-II and Factor-V – The SNPs in these gene area ssociated with thrombosis disorders resulting in hypercoagulability
  • ATP7B – Either of the 200+ mutations in this gene result in accumulation of coppoer in body parts and is classified as Wilson’s disease.
  • HFE – The polymorphisms in the gene are responsible for increased accumulation of iron in the liver.
  • SPINK1, CFTR – Both these genes are responsible for regulating hte trypsin production pathway in pancreas; mutations result in pancreatitis.
  • JAK2 – Polymorphism in this gene is associated with Budd-Chiari syndrome often as a complication of polycythemia vera.
  • PNPLA3 – SNPs in this gene are associated with non-alcoholic fatty liver disease and steatohepatitis.
  • TPMT – The immune suppressant azathioprine metabolism is necessary to curtail its toxic effect. TPMT enzyme is responsible for this and SNP leads to increased drug toxicity.
  • PRSS1 – Mutations in this gene result in premature conversion of trypsinogen to trypsin leading to pancreatitis

Services Rendered

Services 2016 2017 2018
c) TATA box – Polymorphism in the promoter region of UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) results in a defective enzyme leading increased unconjugated bilirubin in circulation. 369 448 498
d) MTHFR, Factor-II and Factor-V – The SNPs in these genes are associated with thrombosis disorders resulting in hypercoagulability. 134 366 314
e) ATP7B – Either of the 200+ mutations in this gene result in accumulation of coppoer in body parts and is classified as Wilson’s disease. 12 14 25
f) HFE – The polymorphisms in the gene are responsible for increased accumulation of iron in the liver. 5 4 11
g) SPINK1, CFTR – Both these genes are responsible for regulating the trypsin production pathway in pancreas; mutations result in pancreatitis. 69 62 43
h) JAK2 – Polymorphism in this gene is associated with Budd-Chiari syndrome often as a complication of polycythemia vera. 178 158 138
i) PNPLA3 – SNPs in this gene are associated with non-alcoholic fatty liver disease and steatohepatitis 33 30 93
j) TPMT – The immune suppressant azathioprine metabolism is necessary to curtail its toxic effect. TPMT enzyme is responsible for this and SNP leads to increased drug toxicity 54 45 31
k) PRSS1 – Mutations in this gene result in premature conversion of trypsinogen to trypsin leading to pancreatitis 9 34 22
 

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