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PNPLA3 1148M Varian...
PNPLA3 1148M Variant Influences Circulating Retinol in Adults with Nonalcoholic Fatty Liver Disease or Obesity
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Mondul, A. (author)
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- Mancina, Rosellina Margherita (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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Merlo, A. (author)
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Dongiovanni, P. (author)
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Rametta, R. (author)
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Montalcini, T. (author)
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Valenti, L. (author)
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Albanes, D. (author)
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- Romeo, Stefano, 1976 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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(creator_code:org_t)
- Elsevier BV, 2015
- 2015
- English.
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In: Journal of Nutrition. - : Elsevier BV. - 0022-3166. ; 145:8, s. 1687-1691
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https://doi.org/10.3...
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Abstract
Subject headings
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- Background: Retinal is a lipid-soluble essential nutrient that is stored as retinyl esters in lipid droplets of hepatic stellate cells. Patatin-like phospholipase domain-containing 3 (PNPLA3), through its retinyl-palmitate lipase activity, releases retinol from lipid droplets in hepatic stellate cells in vitro and ex vivo. We have shown that the genetic variant 1148M (rs738409) reduces the PNPLA3 retinyl-palmitate lipase activity. Objective: The aim of the present genetic association study was to test whether overweight/obese carriers of the PNPLA3 148M mutant allele had lower circulating concentrations of retinal than individuals who are homozygous for the 1481 allele. Methods: PNPLA31148M (rs738409) was genotyped by Taqman assay in 76 overweight/obese individuals [BMI (kg/m(2))>= 25; mean +/- SD age: 59.7 +/- 11.4 y; male gender: 70%] with a histologic diagnosis of nonalcoholic fatty liver disease (NAFLD; namely the Milan NAFLD cohort) and in 413 obese men (BMI >= 30; mean SD age: 57.1 +/- 4.9 y) from the alpha-Tocopherol, (beta-Carotene Cancer Prevention (ATBC) Study. Serum concentrations of retinal and alpha-tocopherol were measured by HPLC in both cohorts. beta-Carotene concentrations in the ATBC study were measured by using HPLC. Results: The PNPLA3 148M mutant allele was associated with lower fasting circulating concentrations of retinal (beta = -0.289, P = 0.03) in adults with NAFLD (Milan NAFLD cohort). The PNPLA3148M mutant allele was also associated with lower fasting circulating concentrations of retinal in adults with a BMI >= 30 (ATBC study; [beta = -0.043, P = 0.041. Conclusion: We showed for the first time, to our knowledge, that carriers of the PNPLA3148M allele with either fatty liver plus obesity or obesity alone have lower fasting circulating retinol concentrations.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- PNPLA3
- retinal
- NAFLD
- obesity
- RBP4
- PROTEIN-CALORIE MALNUTRITION
- SERUM VITAMIN-A
- BINDING-PROTEIN
- HEPATOCELLULAR-CARCINOMA
- PREALBUMIN CONCENTRATIONS
- I148M POLYMORPHISM
- RS738409
- ASSOCIATION
- METABOLISM
- TRANSPORT
- Nutrition & Dietetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Mondul, A.
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Mancina, Roselli ...
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Merlo, A.
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Dongiovanni, P.
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Rametta, R.
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Montalcini, T.
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show more...
-
Valenti, L.
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Albanes, D.
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Romeo, Stefano, ...
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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Journal of Nutri ...
- By the university
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University of Gothenburg