Genetic Variants Associated With the Risk of Gall Stones and Cirrhosis
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Identification of genetic risk-variants associated with both GS and modulation of liver cirrhosis in patients with cirrhosis.
研究概览
简要总结
Study population: 1. Patients > 18 years of age. 2.Who have either gall stone disease or cirrhosis.
Study design: All consecutive in-patients and out-patients requiring liver biopsy for evaluation of diffuse parenchymal liver disease will be evaluated for inclusion.
Study Cohorts-
1. Cirrhosis with GSD
2. No cirrhosis with no GSD
3. Cirrhosis with no GSD
4. GSD with no cirrhosis
5. Cirrhosis with history of cholecystectomy for GSD
Study period: 1 year.
Intervention: Blood sample from included patients will be subject to panel based NGS.
Monitoring and assessment: History of all patients including family history will be taken. Screening for cirrhosis will be done by fibroscan or ultrasound scanning. Gall stone diagnosis is made by USG. History about patients’ parents, siblings, spouse, children will be taken with respect to gall stone and cirrhosis. NGS of cholecystitis will be send for the subject and the results will be collected as the fastQ file for analysis.
Statistical Analysis: MVA will be done to identify gene variants independently associated with lithogenesis and cirrhosis, along with demographic and environmental risk factors for these conditions. * From this data, overlapping risk-variants in common associated genes will be identified. A risk estimate (OR with 95% CI) will be calculated for each of the above identified genetic risk variant for the phenotype of cirrhosis with GS.
Adverse effects:
There are no adverse outcomes with respect to this study.
Stopping rule of study: There are no stopping rules for the study.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 18.00 Year(s) 至 99.00 Year(s)（—）
- 性别
- All
入选标准
- •Patients more than 18 years of age.
- •Who has a GSD diagnosed by USG or have history of cholecystectomy for gall stone disease.
- •Who is a diagnosed case of cirrhosis by Fibroscan or USG (Cirrhosis including alcohol related cirrhosis, Hepatitis B, Hepatitis C, Wilsons disease, Hemochromatosis are excluded.
排除标准
- •Patients who have haemolytic anaemia
- •Patients who do not consent for genetic study
- •Patients who has a diagnosed cause for liver disease, including alcohol related cirrhosis, Hepatitis B, Hepatitis C, Wilsons disease, Hemochromatosis.
- •Inability to provide informed consent.
- •Cannot understand Hindi or English should be excluded since they will not be able to reply objectively to questionnaire.
结局指标
主要结局
Identification of genetic risk-variants associated with both GS and modulation of liver cirrhosis in patients with cirrhosis.
时间窗: Day 0
次要结局
- Identification of genetic polymorphisms in bile-acid metabolism and enterohepatic circulation, associated with increased GS risk in patients with cirrhosis.(Day 0)
- Identification of genetic polymorphisms in cholesterol metabolism pathway, associated with increased GS risk in patients with cirrhosis(Day 0)
- To study the association of UGT1A1 polymorphisms affecting bilirubin conjugation, with risk of GS in patients with cirrhosis.(Day 0)
研究者
Dr Ananthu SJ Narayan
Institute of Liver and Biliary Sciences