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 carryout genetic investigations for liver diseases. Genetics is an indispensible ï¬eld for disease related research. More than 4700 patients have been screened for genetic disorders leading to liver diseases since the department started. With rapid pace of research new genes are being identiï¬ed that correlate with liver diseases eventually resulting in the increase in the number of patients that are now being screened for liver disorders. The Department screened over 1100 samples in the past year. The department supports clinical and research faculty, fellows, students and staff by providing them scientiï¬c and technical inputs to meet their research goals. The Department of Genetics provides single nucleotide polymorphism (SNP) analysis for the following diseases:
- 1. IL28B Mutation in this gene is associated with poor immune response during HCV infection.
- 2. ITPA Associated with increased risk of anemia in HCV patients on ribavarin treatment.
- 3. 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.
- 4. MTHFR, Factor-II and Factor-V The SNPs in these gene are associated with thrombosis disorders resulting in hypercoagulability.
- 5. ATP7B Either of the 200+ mutations in this gene result in accumulation of copper in body parts and is classiï¬ed as Wilson's disease.
- 6. HFE The polymorphisms in the gene are responsible for increased accumulation of iron in the liver.
- 7. SPINK1, CFTR Both these genes are responsible for regulating the trypsin production pathway in pancreas; mutations result in pancreatitis.
- 8. JAK2 Polymorphism in this gene is associated with Budd-Chiari syndrome often as a complication of polycythemia vera.
- 9. PNPLA3 SNPs in this gene are associated with non-alcoholic fatty liver disease and steatohepatitis.
- 10. 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.
- 11. PRSS1 Mutations in this gene result in premature conversion of trypsinogen to trypsin leading to pancreatitis
Services Rendered
| |
2024 |
2025 |
| [b] 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. |
522 |
69 |
| [c] MTHFR, Factor-II and Factor-V The SNPs in these gene area ssociated with thrombosis disorders resulting in hypercoagulability. |
386 |
237 |
| [d] ATP7B Either of the 200+ mutations in this gene result in accumulation of coppoer in body parts and is classiï¬ed as Wilson's disease. |
04 |
02 |
| [e] HFE The polymorphisms in the gene are responsible for increased accumulation of iron in the liver. |
04 |
01 |
| [f] SPINK1, CFTR Both these genes are responsible for regulating the trypsin production pathway in pancreas; mutations result in pancreatitis. |
17 |
04 |
| [g] JAK2 Polymorphism in this gene is associated with Budd-Chiari syndrome often as a complication of polycythemia vera. |
172 |
34 |
| [h] PNPLA3 SNPs in this gene are associated with non-alcoholic fatty liver disease and steatohepatitis. |
702 |
110 |
| [i]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 |
08 |
| [j] PRSS1 Mutations in this gene result in premature conversion of trypsinogen to trypsin leading to pancreatitis |
12 |
00 |
| SERVICES |
2024 |
2025 |
| ATPB7 |
4 |
2 |
| PRSS |
12 |
0 |
| JAK2 |
172 |
34 |
| SPINK1 |
16 |
4 |
| CFTR |
1 |
0 |
| TPMT |
54 |
8 |
| HFE |
4 |
1 |
| PNPLA3 |
699 |
110 |
| TATA BOX |
522 |
69 |
| MTHFR,FII,FVL |
386 |
237 |
