Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients

Obesity

Volumn 20, Issue 10, 2012, Pages 2075-2082

  Guénard, Frédéric ^a,b   Houde, Alain ^a,b   Bouchard, Luigi ^c   Tchernof, André ^b   Deshaies, Yves ^b,d   Biron, Simon ^b   Lescelleur, Odette ^b   Biertho, Laurent ^b   Marceau, Simon ^b   Pérusse, Louis ^b   Vohl, Marie Claude ^a,b  

^a LAVAL UNIVERSITY   (Canada)

^b UNIVERSITÉ LAVAL   (Canada)

^c CHICOUTIMI HOSPITAL   (Canada)

^d LAVAL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; GENOMIC DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MESSENGER RNA;

ADULT; AGE DISTRIBUTION; ARTICLE; BARIATRIC SURGERY; CHOLESTEROL BLOOD LEVEL; COHORT ANALYSIS; DIABETES MELLITUS; DIASTOLIC BLOOD PRESSURE; DISEASE SEVERITY; DNA FLANKING REGION; EXON; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HYPOTENSION; INTRON; LIPA GENE; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; METABOLIC SYNDROME X; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; OBESITY; PROMOTER REGION; SEQUENCE ANALYSIS; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE;

ADULT; CARDIOVASCULAR DISEASES; COHORT STUDIES; FEMALE; HUMANS; MALE; METABOLIC SYNDROME X; OBESITY, MORBID; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; QUEBEC; SEQUENCE ANALYSIS, DNA; STEROL ESTERASE; TRIGLYCERIDES; WOLMAN DISEASE;

EID: 84866742598     PISSN: 19307381     EISSN: 1930739X     Source Type: Journal    
DOI: 10.1038/oby.2012.52     Document Type: Article

References (41)

1. Mokdad AH, Ford ES, Bowman BA et al. Prevalence of obesity, diabetes, and obesity-related health risk factors, 2001. JAMA 2003;289:76-79.
2. Lafontan M, Girard J. Impact of visceral adipose tissue on liver metabolism. Part I: heterogeneity of adipose tissue and functional properties of visceral adipose tissue. Diabetes Metab 2008;34:317-327.
3. Mathieu P, Poirier P, Pibarot P, Lemieux I, Després J P. Visceral obesity: the link among inflammation, hypertension, and cardiovascular disease. Hypertension 2009;53:577-584.
4. Karelis AD, St-Pierre DH, Conus F, Rabasa-Lhoret R, Poehlman E T. Metabolic and body composition factors in subgroups of obesity: what do we know? J Clin Endocrinol Metab 2004;89:2569-2575.
5. Terán-García M, Bouchard C. Genetics of the metabolic syndrome. Appl Physiol Nutr Metab 2007;32:89-114.
6. Bouchard L, Tchernof A, Deshaies Y et al. ZFP36: a promising candidate gene for obesity-related metabolic complications identified by converging genomics. Obes Surg 2007;17:372-382.
7. Ameis D, Merkel M, Eckerskorn C, Greten H. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Eur J Biochem 1994;219:905-914.
8. Goldstein JL, Dana SE, Faust JR, Beaudet AL, Brown MS. Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease. J Biol Chem 1975;250:8487-8495.
9. Goldstein JL, Brown MS. The low-density lipoprotein pathway and its relation to atherosclerosis. Annu Rev Biochem 1977;46:897-930.
10. Burke JA, Schubert WK. Deficient activity of hepatic acid lipase in cholesterol ester storage disease. Science 1972;176:309-310.
11. Hoeg JM, Demosky SJ Jr, Pescovitz OH, Brewer HB Jr. Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency. Am J Hum Genet 1984;36:1190-1203.
12. Schmitz G, Assmann G. Acid lipase deficiency: Wolman disease and cholesterol ester storage disease. In: Scriver SC, Beaudet AL, Sly WS, Valle D (eds). The Metabolic Basis of Inherited Disease. McGraw-Hill: New York, 1989, pp 1623-1644.
13. Sloan HR, Fredrickson DS. Enzyme deficiency in cholesteryl ester storage idisease. J Clin Invest 1972;51:1923-1926.
14. Elleder M, Chlumská A, Hyánek J et al. Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. J Hepatol 2000;32:528-534.
15. Coates PM, Langer T, Cortner JA. Genetic variation of human mononuclear leukocyte lysosomal acid lipase activity. Relationship to atherosclerosis. Atherosclerosis 1986;62:11-20.
16. Yatsu FM, Hagemenas FC, Manaugh LC, Galambos T. Cholesteryl ester hydrolase activity in human symptomatic atherosclerosis. Lipids 1980;15:1019-1022.
17. Marceau P, Hould FS, Simard S et al. Biliopancreatic diversion with duodenal switch. World J Surg 1998;22:947-954.
18. Robitaille J, Després J P, Pérusse L, Vohl MC. The PPAR-γ P12A polymorphism modulates the relationship between dietary fat intake and components of the metabolic syndrome: results from the Québec Family Study. Clin Genet 2003;63:109-116.
19. Expert Panel on Detection EaToHBCiA. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (dult Treatment Panel III). JAMA 2001;285:2486-2497.
20. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-265.
21. de Bakker PI, Yelensky R, Pe'er I et al. Efficiency and power in genetic association studies. Nat Genet 2005;37:1217-1223.
22. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997;4:311-323.
23. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003;31:3568-3571.
24. Ouimet M, Franklin V, Mak E et al. Autophagy regulates cholesterol efflux from macrophage foam cells via lysosomal acid lipase. Cell Metab 2011;13:655-667.
25. Ross R. Atherosclerosis-an inflammatory disease. N Engl J Med 1999;340:115-126.
26. Weisberg S P, McCann D, Desai M et al. Obesity is associated with macrophage accumulation in adipose tissue. J Clin Invest 2003;112:1796-1808.
27. Xu H, Barnes G T, Yang Q et al. Chronic inflammation in fat plays a crucial role in the development of obesity-related insulin resistance. J Clin Invest 2003;112:1821-1830.
28. Assoumou HG, Barthelemy JC, Garet M et al. Increased waist circumference is the component of metabolic syndrome the most strongly associated with elevated C-reactive protein in elderly. Metab Syndr Relat Disord 2011;9:281-285.
29. Fröhlich M, Imhof A, Berg G et al. Association between C-reactive protein and features of the metabolic syndrome: a population-based study. Diabetes Care 2000;23:1835-1839.
30. Ginsberg HN, Le NA, Short MP, Ramakrishnan R, Desnick RJ. Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. J Clin Invest 1987;80:1692-1697.
31. Kelly DR, Hoeg JM, Demosky SJ Jr, Brewer HB Jr. Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease. Biochem Med 1985;33:29-37.
32. Kostner GM, Hadorn B, Roscher A, Zechner R. Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease. J Inherit Metab Dis 1985;8:9-12.
33. Anderson RA, Byrum RS, Coates PM, Sando GN. Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proc Natl Acad Sci USA 1994;91:2718-2722.
34. Du H, Sheriff S, Bezerra J, Leonova T, Grabowski GA. Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. Mol Genet Metab 1998;64:126-134.
35. Brunzell JD, Austin MA. Plasma triglyceride levels and coronary disease. N Engl J Med 1989;320:1273-1275.
36. Patsch W, Sharrett AR, Sorlie PD, Davis CE, Brown SA. The relation of high density lipoprotein cholesterol and its subfractions to apolipoprotein A-I and fasting triglycerides: the role of environmental factors. The Atherosclerosis Risk in Communities (ARIC) Study. Am J Epidemiol 1992;136:546-557.
37. Bonora E, Kiechl S, Willeit J et al. Prevalence of insulin resistance in metabolic disorders: the Bruneck Study. Diabetes 1998;47:1643-1649.
38. Brochu M, Tchernof A, Dionne IJ et al. What are the physical characteristics associated with a normal metabolic profile despite a high level of obesity in postmenopausal women? J Clin Endocrinol Metab 2001;86:1020-1025.
39. Ferrannini E, Haffner SM, Mitchell BD, Stern M P. Hyperinsulinaemia: the key feature of a cardiovascular and metabolic syndrome. Diabetologia 1991;34:416-422.
40. Iacobellis G, Ribaudo MC, Zappaterreno A, Iannucci C V, Leonetti F. Prevalence of uncomplicated obesity in an Italian obese population. Obes Res 2005;13:1116-1122.
41. Velho S, Paccaud F, Waeber G, Vollenweider P, Marques-Vidal P. Metabolically healthy obesity: different prevalences using different criteria. Eur J Clin Nutr 2010;64:1043-1051.