Association of RXR-gamma gene variants with familial combined hyperlipidemia: Genotype and haplotype analysis

Journal of Lipids

Volumn 2013, Issue , 2013, Pages

  Sentinelli, Federica ^a,b   Minicocci, Ilenia ^a   Montali, Anna ^a   Nanni, Luisa ^a   Romeo, Stefano ^c   Incani, Michela ^b   Cavallo, M Gisella ^a   Lenzi, Andrea ^a   Arca, Marcello ^a   Baroni, Marco G ^a,b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; GENOMIC DNA; GLUCOSE; HIGH DENSITY LIPOPROTEIN; INSULIN; LOW DENSITY LIPOPROTEIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RETINOID X RECEPTOR GAMMA; TRIACYLGLYCEROL;

3' UNTRANSLATED REGION; ADULT; ARTICLE; CHOLESTEROL BLOOD LEVEL; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONTROLLED STUDY; EXON; FAMILIAL COMBINED HYPERLIPIDEMIA; FAMILIAL HYPERLIPEMIA; FEMALE; FIRST DEGREE RELATIVE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; HAPLOTYPE; HUMAN; INSULIN BLOOD LEVEL; INTRON; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; TRIACYLGLYCEROL BLOOD LEVEL;

EID: 84899151434     PISSN: 20903030     EISSN: 20903049     Source Type: Journal    
DOI: 10.1155/2013/517943     Document Type: Article

References (21)

1. Shoulders C. C., Jones E. L., Naoumova R. P., Genetics of familial combined hyperlipidemia and risk of coronary heart disease. Human Molecular Genetics 2004 13 1 R149 R160 2-s2.0-1842612038 (Pubitemid 38443809)
2. Hopkins P. N., Heiss G., Ellison R. C., Province M. A., Pankow J. S., Eckfeldt J. H., Hunt S. C., Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case-control comparison from the National Heart, Lung, and Blood Institute Family Heart study. Circulation 2003 108 5 519 523 2-s2.0-0042074140 10.1161/01.CIR.0000081777.17879.85 (Pubitemid 36961163)
3. Ayyobi A. F., McGladdery S. H., McNeely M. J., Austin M. A., Motulsky A. G., Brunzell J. D., Small, dense LDL and elevated apolipoprotein B are the common characteristics for the three major lipid phenotypes of familial combined hyperlipidemia. Arteriosclerosis, Thrombosis, and Vascular Biology 2003 23 7 1289 1294 2-s2.0-0038108651 10.1161/01.ATV.0000077220.44620.9B (Pubitemid 36871286)
4. Sniderman A. D., Ribalta J., Castro Cabezas M., How should FCHL be defined and how should we think about its metabolic bases? Nutrition, Metabolism and Cardiovascular Diseases 2001 11 4 259 273 2-s2.0-0035436475 (Pubitemid 33686216)
5. Veerkamp M. J., de Graaf J., Bredie S. J., Hendriks J. C., Demacker P. N., Stalenhoef A. F., Diagnosis of familial combined hyperlipidemia based on lipid phenotype expression in 32 families: results of a 5-year follow-up study. Arteriosclerosis, Thrombosis, and Vascular Biology 2002 22 2 274 282 2-s2.0-0036159488 10.1161/hq0202.104059 (Pubitemid 34127039)
6. Goldstein J. L., Schrott H. G., Hazzard W. R., Bierman E. L., Motulsky A. G., Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. Journal of Clinical Investigation 1973 52 7 1544 1568 2-s2.0-0015796295
7. Pajukanta P., Nuotio I., Terwilliger J. D., Porkka K. V. K., Ylitalo K., Pihlajamaki J., Suomalainen A. J., Syvanen A.-C., Lehtimaki T., Viikari J. S. A., Laakso M., Taskinen M.-R., Ehnholm C., Peltonen L., Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nature Genetics 1998 18 4 369 373 2-s2.0-0031918837 10.1038/ng0498-369 (Pubitemid 28158167)
8. Mangelsdorf D. J., Evans R. M., The RXR heterodimers and orphan receptors. Cell 1995 83 6 841 850 2-s2.0-0029562554 10.1016/0092-8674(95)90200-7 (Pubitemid 26006526)
9. Shulman A. I., Mangelsdorf D. J., Retinoid X receptor heterodimers in the metabolic syndrome. The New England Journal of Medicine 2005 353 6 604 615 2-s2.0-23444431623 10.1056/NEJMra043590 (Pubitemid 41138942)
10. Knoblauch H., Busjahn A., Müller-Myhsok B., Faulhaber H.-D., Schuster H., Uhlmann R., Luft F. C., Peroxisome proliferator-activated receptor γ gene locus is related to body mass index and lipid values in healthy nonobese subjects. Arteriosclerosis, Thrombosis, and Vascular Biology 1999 19 12 2940 2944 2-s2.0-0033387971 (Pubitemid 30029822)
11. Nanni L., Quagliarini F., Megiorni F., Montali A., Minicocci I., Campagna F., Pizzuti A., Arca M., Genetic variants in adipose triglyceride lipase influence lipid levels in familial combined hyperlipidemia. Atherosclerosis 2010 213 1 206 211 2-s2.0-77958502859 10.1016/j.atherosclerosis.2010.08.055
12. Matthews D. R., Hosker J. P., Rudenski A. S., Naylor B. A., Treacher D. F., Turner R. C., Homeostasis model assessment: insulin resistance and β -cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985 28 7 412 419 2-s2.0-0021813187 (Pubitemid 15018832)
13. Arca M., Montali A., Pigna G., Antonini R., Antonini T. M., Luigi P., Fraioli A., Mastrantoni M., Maddaloni M., Letizia C., Comparison of atorvastatin versus fenofibrate in reaching lipid targets and influencing biomarkers of endothelial damage in patients with familial combined hyperlipidemia. Metabolism 2007 56 11 1534 1541 2-s2.0-35248884433 10.1016/j.metabol.2007.06.021 (Pubitemid 47562504)
14. Perneger T. V., What's wrong with Bonferroni adjustments. British Medical Journal 1998 316 7139 1236 1238 2-s2.0-0032542897 (Pubitemid 28171344)
15. Nohara A., Kawashiri M. A., Claudel T., Mizuno M., Tsuchida M., Takata M., Katsuda S., Miwa K., Inazu A., Kuipers F., Kobayashi J., Koizumi J., Yamagishi M., Mabuchi H., High frequency of a retinoid X receptor γ gene variant in familial combined hyperlipidemia that associates with atherogenic dyslipidemia. Arteriosclerosis, Thrombosis, and Vascular Biology 2007 27 4 923 928 2-s2.0-34247233324 10.1161/01.ATV.0000258945.76141.8a (Pubitemid 46606726)
16. Pei W., Baron H., Müller-Myhsok B., Knoblauch H., Al-Yahyaee S. A., Hui R., Wu X., Liu L., Busjahn A., Luft F. C., Schuster H., Support for linkage of familial combined hyperlipidemia to chromosome 1q21-q23 in Chinese and German families. Clinical Genetics 2000 57 1 29 34 2-s2.0-0033984185 10.1034/j.1399-0004.2000.570105.x (Pubitemid 30105558)
17. Dawson M. I., Xia Z., The retinoid X receptors and their ligands. Biochimica et Biophysica Acta 2012 1821 1 21 56 2-s2.0-83255176681 10.1016/j.bbalip.2011.09.014
18. -/- mutant mice are viable. Proceedings of the National Academy of Sciences of the United States of America 1996 93 17 9010 9014 2-s2.0-0029832219
19. Haugen B. R., Jensen D. R., Sharma V., Pulawa L. K., Hays W. R., Krezel W., Chambon P., Eckel R. H., Retinoid X receptor γ -deficient mice have increased skeletal muscle lipoprotein lipase activity and less weight gain when fed a high-fat diet. Endocrinology 2004 145 8 3679 3685 2-s2.0-3843117675 10.1210/en.2003-1401 (Pubitemid 39037553)
20. Szanto A., Narkar V., Shen Q., Uray I. P., Davies P. J., Nagy L., Retinoid X receptors: X-ploring their (patho)physiological functions. Cell Death and Differentiation 2004 11 2 S126 S143 2-s2.0-12844252576 10.1038/sj.cdd. 4401533 (Pubitemid 40163969)
21. Zelcer N., Tontonoz P., Liver X receptors as integrators of metabolic and inflammatory signaling. Journal of Clinical Investigation 2006 116 3 607 614 2-s2.0-33644651160 10.1172/JCI27883 (Pubitemid 43326865)