Influence of Adiponutrin in Chronic Liver Disease

NCT ID: NCT01122797

Last Updated: 2010-05-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

658 participants

Study Classification

OBSERVATIONAL

Study Start Date

2003-01-31

Study Completion Date

2010-03-31

Brief Summary

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Increasing evidence attests the influence of multiple metabolic genetic risk factors in the progression of alcoholic liver disease. Deleterious pathways involved in metabolism such as lipid peroxidation and cytokines have been implicated in promoting inflammation leading to fibrosis increase and liver injury progression. The aim of this study was to assess the role of rs738409 single nucleotide polymorphism in the PNPLA3 gene in alcoholic liver disease patients.

Detailed Description

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Conditions

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Alcoholic Liver Disease

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Alcoholic liver disease

Alcoholic liver disease patients undergoing a transjugular liver biopsy in our institution

No interventions assigned to this group

Controls

Healthy controls patients recruited from the Occupational Medicine Department during a routine physical examination.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Excess alcohol intake
* Abnormal alanine aminotransferase (ALT) and aspartate aminotransferase (AST) or a suspicion of cirrhosis related to ALD
* Caucasian ethnicity


* Caucasian ethnicity

Exclusion Criteria

* Presence of any other chronic liver disease
* Co-infection with human immunodeficiency virus

Controls:


* Presence of a disease
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Erasme University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Erasme University Hospital (Olivier Le Moine, MD, PhD)

Locations

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Hopital Erasme- Dpt of Gastroenterology

Brussels, , Belgium

Site Status

Countries

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Belgium

References

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Tian C, Stokowski RP, Kershenobich D, Ballinger DG, Hinds DA. Variant in PNPLA3 is associated with alcoholic liver disease. Nat Genet. 2010 Jan;42(1):21-3. doi: 10.1038/ng.488. Epub 2009 Nov 29.

Reference Type BACKGROUND
PMID: 19946271 (View on PubMed)

Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA, Boerwinkle E, Cohen JC, Hobbs HH. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008 Dec;40(12):1461-5. doi: 10.1038/ng.257. Epub 2008 Sep 25.

Reference Type BACKGROUND
PMID: 18820647 (View on PubMed)

Yuan X, Waterworth D, Perry JR, Lim N, Song K, Chambers JC, Zhang W, Vollenweider P, Stirnadel H, Johnson T, Bergmann S, Beckmann ND, Li Y, Ferrucci L, Melzer D, Hernandez D, Singleton A, Scott J, Elliott P, Waeber G, Cardon L, Frayling TM, Kooner JS, Mooser V. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet. 2008 Oct;83(4):520-8. doi: 10.1016/j.ajhg.2008.09.012.

Reference Type BACKGROUND
PMID: 18940312 (View on PubMed)

Huang Y, He S, Li JZ, Seo YK, Osborne TF, Cohen JC, Hobbs HH. A feed-forward loop amplifies nutritional regulation of PNPLA3. Proc Natl Acad Sci U S A. 2010 Apr 27;107(17):7892-7. doi: 10.1073/pnas.1003585107. Epub 2010 Apr 12.

Reference Type BACKGROUND
PMID: 20385813 (View on PubMed)

He S, McPhaul C, Li JZ, Garuti R, Kinch L, Grishin NV, Cohen JC, Hobbs HH. A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis. J Biol Chem. 2010 Feb 26;285(9):6706-15. doi: 10.1074/jbc.M109.064501. Epub 2009 Dec 23.

Reference Type BACKGROUND
PMID: 20034933 (View on PubMed)

Kotronen A, Peltonen M, Hakkarainen A, Sevastianova K, Bergholm R, Johansson LM, Lundbom N, Rissanen A, Ridderstrale M, Groop L, Orho-Melander M, Yki-Jarvinen H. Prediction of non-alcoholic fatty liver disease and liver fat using metabolic and genetic factors. Gastroenterology. 2009 Sep;137(3):865-72. doi: 10.1053/j.gastro.2009.06.005. Epub 2009 Jun 12.

Reference Type BACKGROUND
PMID: 19524579 (View on PubMed)

Kotronen A, Johansson LE, Johansson LM, Roos C, Westerbacka J, Hamsten A, Bergholm R, Arkkila P, Arola J, Kiviluoto T, Fisher RM, Ehrenborg E, Orho-Melander M, Ridderstrale M, Groop L, Yki-Jarvinen H. A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans. Diabetologia. 2009 Jun;52(6):1056-60. doi: 10.1007/s00125-009-1285-z. Epub 2009 Feb 18.

Reference Type BACKGROUND
PMID: 19224197 (View on PubMed)

Valenti L, Al-Serri A, Daly AK, Galmozzi E, Rametta R, Dongiovanni P, Nobili V, Mozzi E, Roviaro G, Vanni E, Bugianesi E, Maggioni M, Fracanzani AL, Fargion S, Day CP. Homozygosity for the patatin-like phospholipase-3/adiponutrin I148M polymorphism influences liver fibrosis in patients with nonalcoholic fatty liver disease. Hepatology. 2010 Apr;51(4):1209-17. doi: 10.1002/hep.23622.

Reference Type BACKGROUND
PMID: 20373368 (View on PubMed)

Trepo E, Gustot T, Degre D, Lemmers A, Verset L, Demetter P, Ouziel R, Quertinmont E, Vercruysse V, Amininejad L, Deltenre P, Le Moine O, Deviere J, Franchimont D, Moreno C. Common polymorphism in the PNPLA3/adiponutrin gene confers higher risk of cirrhosis and liver damage in alcoholic liver disease. J Hepatol. 2011 Oct;55(4):906-12. doi: 10.1016/j.jhep.2011.01.028. Epub 2011 Feb 18.

Reference Type DERIVED
PMID: 21334404 (View on PubMed)

Other Identifiers

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ET-PNPLA3

Identifier Type: -

Identifier Source: org_study_id

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