Study of PNPLA3 Genetic Polymorphisms in Patients With Non-Alcoholic Fatty Liver Disease in an Ultramarine Population
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 600
- 试验地点
- 3
- 主要终点
- Allele frequencies of PNPLA3 variants
研究概览
简要总结
Metabolic Dysfunction Associated Liver Disease (MASLD) is associated with metabolic syndrome, and PNPLA3 variants are known to be implicated in intrahepatic lipid accumulation and linked to lipotoxicity. Analysis of PNPLA3 polymorphisms in an overseas territories population of MASLD would be interesting to describe their profile susceptibility to develop Metabolic dysfunction associated steatohepatitis (MASH).
详细描述
Metabolic dysfunction associated liver disease (MASLD) is a significant public health concern worldwide with a complex etiology attributed to behavioural, environmental, and genetic causes. The worldwide prevalence of MASLD is estimated to be 32.4% and constantly rising.
Several studies suggest differences in the prevalence and severity of MASLD by race or ethnicity, which may be linked to differences in lifestyle, diet, metabolic comorbidity profile, and genetic background, among others.
Race/ethnicity research is essential as it can provide valuable information regarding biological and genetic differences among people with similar cultural, dietary, and geographical backgrounds.
There is ample epidemiological evidence on the role of genetic susceptibility in MASLD, mainly from studies showing the clustering of MASLD cases among families and observing differences in the prevalence and severity of MASLD among ethnicities.
The Overseas territories population is predominantly of African descent due to slave trade of population from sub-Saharan Africa between the seventeenth and nineteenth centuries. They have also been a mixture from Europeans and Indians. Indian are descents from Latin America, initially present on the territories, and from Asia, after the abolition of slavery. Data about MASLD in Overseas territories are scarce. To our knowledge, one study reported the prevalence of MASLD in Caribbean and Hispanic populations resident in the United States compared with Hispanic residents in Latin America (Kallwitz 2015). In the later study, rates of MASLD were significantly lower in persons with Caribbean origin than those of Latin America heritage.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •IInclusion Criteria
- •Adult patients (≥18 years old) seen in consultation or hospitalized in the Hepato-Gastroenterology Departments of the University Hospitals of Guadeloupe, French Guiana, and Réunion Island, with a diagnosis of MASLD.
- •MASLD is defined as evidence of hepatic steatosis associated with overweight/obesity, type 2 diabetes, or metabolic syndrome according to ATP III (2005) criteria.
- •Patients affiliated with, or beneficiaries of, a social security scheme.
- •Free, informed, and written consent obtained from the participant and signed by both the participant and the investigator (no later than the day of inclusion and prior to any procedure required by the study).
排除标准
- •Patients under 18 years of age.
- •Patients unable to provide informed consent; so-called vulnerable populations (individuals under guardianship, judicial protection, etc.).
- •Presence of another cause of chronic liver disease, including:
- •Viral hepatitis (B, C, or E)
- •Primary biliary cholangitis or primary sclerosing cholangitis
- •Autoimmune hepatitis
- •Wilson's disease
- •Hemochromatosis
- •Alpha-1 antitrypsin deficiency
- •Alcoholic liver disease, or daily alcohol consumption >30 g/day for men or >20 g/day for women
- •Pregnant women.
结局指标
主要结局
Allele frequencies of PNPLA3 variants
时间窗: Baseline (inclusion visit).
The primary outcome is the allele frequencies of PNPLA3 gene variants in patients with Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) from the overseas population. Genotyping will be performed on DNA extracted from patient blood samples, and the frequency of each allele will be reported as the proportion of participants carrying the variant.
次要结局
- Distribution of MASLD Clinical Stages at Baseline(Baseline (inclusion visit).)
- Distribution of Liver Fibrosis Stages Assessed by Imaging at Baseline(Baseline (inclusion visit).)
- Distribution of MASLD Severity Based on Laboratory Biomarkers at Baseline(Baseline (inclusion visit).)