Literature DB >> 20884100

Promoter variant -204A > C of the cholesterol 7α-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells.

Isabel De Castro-Orós1, Sandra Pampín, Montserrat Cofán, Pilar Mozas, Xavier Pintó, Jordi Salas-Salvadó, Jose C Rodríguez-Rey, Emilio Ros, Fernando Civeira, Miguel Pocoví.   

Abstract

BACKGROUND & AIMS: The bile acid pool influences intestinal cholesterol absorption because this process is strictly dependent on micellar solubilization, which is disrupted by plant sterols (PS). Plasma lipid variation relates to promoter variant -204A > C (rs3808607) of the CYP7A1 gene encoding for 7α-hydroxylase, an enzyme for bile acid synthesis. We hypothesized that this polymorphism would be associated with variability in lipid responses to PS.
METHODS: We investigated 67 subjects (31 AA and 36 AC + CC) with lipid responses to PS documented in two studies. To assess the functionality of the -204A > C variant, electrophoretic mobility gel shift assays were performed and luciferase reporter plasmids containing the promoter were transfected into HepG2 cells.
RESULTS: Compared to AA-subjects, C-carriers showed significantly higher adjusted mean reductions in total cholesterol (0.14 versus 0.43 mmol/L, P = 0.042) and increases in lathosterol-to-cholesterol ratios (0.10 versus 0.75, P = 0.013). The C-construct caused a 78% promoter activity increase and gel-shift assays showed lower affinity for nuclear transcription factors, while in silico experiments predicted a binding site for inhibitory nuclear factors RXR-CAR.
CONCLUSIONS: Results suggest that promoter -204A > C variant is associated with enhanced CYP7A1 activity. Increased intestinal bile acids and ensuing more efficient cholesterol absorption might explain why C-allele carriers show enhanced cholesterol lowering and increased feedback cholesterol synthesis to PS intervention.
Copyright © 2010 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

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Year:  2010        PMID: 20884100     DOI: 10.1016/j.clnu.2010.07.020

Source DB:  PubMed          Journal:  Clin Nutr        ISSN: 0261-5614            Impact factor:   7.324


  13 in total

1.  Complementary Cholesterol-Lowering Response of a Phytosterol/α-Lipoic Acid Combination in Obese Zucker Rats.

Authors:  Todd C Rideout; Bradley Carrier; Shin Wen; Amy Raslawsky; Richard W Browne; Scott V Harding
Journal:  J Diet Suppl       Date:  2015-02-09

Review 2.  Progress and perspectives in plant sterol and plant stanol research.

Authors:  Peter J H Jones; Maryam Shamloo; Dylan S MacKay; Todd C Rideout; Semone B Myrie; Jogchum Plat; Jean-Baptiste Roullet; David J Baer; Kara L Calkins; Harry R Davis; P Barton Duell; Henry Ginsberg; Helena Gylling; David Jenkins; Dieter Lütjohann; Mohammad Moghadasian; Robert A Moreau; David Mymin; Richard E Ostlund; Rouyanne T Ras; Javier Ochoa Reparaz; Elke A Trautwein; Stephen Turley; Tim Vanmierlo; Oliver Weingärtner
Journal:  Nutr Rev       Date:  2018-10-01       Impact factor: 7.110

Review 3.  GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Authors:  Barbara Walther; Aaron M Lett; Alessandra Bordoni; Lidia Tomás-Cobos; Juan Antonio Nieto; Didier Dupont; Francesca Danesi; Danit R Shahar; Ana Echaniz; Roberta Re; Aida Sainz Fernandez; Amélie Deglaire; Doreen Gille; Alexandra Schmid; Guy Vergères
Journal:  Mol Nutr Food Res       Date:  2019-10-01       Impact factor: 5.914

Review 4.  Revisiting Human Cholesterol Synthesis and Absorption: The Reciprocity Paradigm and its Key Regulators.

Authors:  Peter A S Alphonse; Peter J H Jones
Journal:  Lipids       Date:  2015-11-30       Impact factor: 1.880

5.  Association of cholesterol 7α-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population.

Authors:  Eda Sezer; Birsen Can Demirdöğen; Şeref Demirkaya; Giray Bulut; Merve Akkulak; Emre Evin; Orhan Adalı
Journal:  Neurol Sci       Date:  2021-09-21       Impact factor: 3.307

6.  Interactions Between Regulatory Variants in CYP7A1 (Cholesterol 7α-Hydroxylase) Promoter and Enhancer Regions Regulate CYP7A1 Expression.

Authors:  Danxin Wang; Katherine Hartmann; Michal Seweryn; Wolfgang Sadee
Journal:  Circ Genom Precis Med       Date:  2018-10

7.  Association of genes involved in bile acid synthesis with the progression of primary biliary cirrhosis in Japanese patients.

Authors:  Tatsuo Inamine; Shingo Higa; Fumie Noguchi; Shinji Kondo; Katsuhisa Omagari; Hiroshi Yatsuhashi; Kazuhiro Tsukamoto; Minoru Nakamura
Journal:  J Gastroenterol       Date:  2013-01-11       Impact factor: 7.527

Review 8.  The food matrix and sterol characteristics affect the plasma cholesterol lowering of phytosterol/phytostanol.

Authors:  Laura Kells Cusack; Maria Luz Fernandez; Jeff S Volek
Journal:  Adv Nutr       Date:  2013-11-06       Impact factor: 8.701

9.  The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.

Authors:  Mounia Qrafli; Youssef Amar; Jamaleddine Bourkadi; Jouda Ben Amor; Ghali Iraki; Youssef Bakri; Saaîd Amzazi; Ouafae Lahlou; Fouad Seghrouchni; Rajae El Aouad; Khalid Sadki
Journal:  Pan Afr Med J       Date:  2014-05-01

10.  Relationship between CYP7A1 -204A>C polymorphism with gallbladder stone disease and serum lipid levels: a meta-analysis.

Authors:  Qiang Cai; Zhen-Qiang Wang; Qu Cai; Chen Li; Er-Zhen Chen; Zhao-Yan Jiang
Journal:  Lipids Health Dis       Date:  2014-08-08       Impact factor: 3.876

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