Genetics of Fatty Liver Disease in Children



Status:Completed
Conditions:Gastrointestinal, Gastrointestinal
Therapuetic Areas:Gastroenterology
Healthy:No
Age Range:7 - 18
Updated:12/10/2017
Start Date:July 2011
End Date:July 2017

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Genetics of Fatty Liver Disease in Childhood Obesity.

This is a study to investigate genetic predisposition to hepatic steatosis and the expression
of gluconeogenic and lipogenic genes in livers of obese children and adolescents.

Hypothesis 1: Common variants recently associated with variation in plasma TG levels
identified in Genome Wide Association Studies (GWAS) (such as GCKR, PNPLA3) can affect
accumulation of fat and subsequent development of Non Alcoholic Fatty Liver Disease (NAFLD).
Gene variants act in additive or synergistic manner with progressive liver fat accumulation
per additional risk allele.

Hypothesis 2: With increase in hepatic fat content NASH and fibrosis will increase.
Furthermore, expression of lipogenic markers (SREBP1c) will increase.

To establish a cohort of obese youths to prospectively analyze potential factors (genetic and
nutritional factors) that might affect the expression and progression of NAFLD. This study
will determine genetic markers and their ability to convey susceptibility to NAFLD in obese
children and adolescents. Furthermore, potential mechanisms that might contribute to the
accumulation of hepatic Triglyceride (TG) accumulation will be, for the first time, assessed
by genotyping. Additionally, we will examine the presence of intestinal microbiome in the
development of fatty liver through stool collection.

Inclusion Criteria:

- between 7 and 18 years of age,

- overweight or obese with a BMI greater than the 85th percentile for age and gender,
and

- be otherwise healthy.

Exclusion Criteria:

- the use of any medication that alters liver function, blood pressure, glucose or lipid
metabolism and

- no use of any antipsychotic medication

- Youth on chronic anti-inflammatory medications or who consume alcohol are also
excluded.
We found this trial at
1
site
New Haven, Connecticut 6520
(203) 432-4771
Principal Investigator: Sonia Caprio, M.D.
Phone: 203-785-2942
Yale University Yale's roots can be traced back to the 1640s, when colonial clergymen led...
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New Haven, CT
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