Research Topics
Genomes and Genes | Clive R PullingerSummaryAffiliation: University of California Country: USA Publications
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Publications
The lipoprotein lipase gene in combined hyperlipidemia: evidence of a protective allele depletionShu Fen Wung
College of Nursing, University of Arizona, Tucson, AZ, USA
Lipids Health Dis 5:19. 2006..A case-control design was employed. The polymorphism was assessed by restriction assay in 212 cases and 161 controls. Genotypic, allelic, and phenotypic associations were examined...
Metabolic abnormalities and coronary heart disease risk in human immunodeficiency virus-infected adultsClive R Pullinger
Cardiovascular Research Institute, University of California, San Francisco, CA 94143 0130, USA
Metab Syndr Relat Disord 8:279-86. 2010..Metabolic syndrome is a combination of risk factors for cardiovascular disease and diabetes, It has been reported to be increased in human immunodeficiency virus (HIV)-infected individuals...
An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patientsClive R Pullinger
Cardiovascular Research Institute, University of California, San Francisco, CA, USA
J Lipid Res 49:1846-54. 2008..This specific apoA-V variant has a pronounced effect on TG metabolism, the mechanism of which remains to be elucidated...
Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemiaMary B Engler
Department of Physiological Nursing, University of California San Francisco, San Francisco, CA 94143, USA
Metabolism 57:1719-24. 2008..Linear regression models predict that possession of the rs2294213 minor allele increases HDL-C independent of triglycerides. These findings extend the association of rs2294213 with HDL-C levels into the extremes of the HDL distribution...
Types of sleep problems in adults living with HIV/AIDSKathryn A Lee
Department of Family Health Care Nursing, University of California, San Francisco, CA 94143 0606, USA
J Clin Sleep Med 8:67-75. 2012..To characterize specific types of sleep problems experienced by adults with HIV...
Genetic variants of the ENPP1/PC-1 gene are associated with hypertriglyceridemia in male subjectsSinan Tanyolac
Diabetes Center and Department of Medicine, University of California, San Francisco, California 94115, USA
Metab Syndr Relat Disord 7:543-8. 2009..Membrane glycoprotein PC-1 (also termed ENPP1) is a direct insulin receptor inhibitor, and certain polymorphisms of the ENPP1/PC-1 gene have been associated with insulin resistance, type 2 diabetes, obesity, and diabetic complications...
Regulation of ATP-binding cassette transporter A1 transcription by thyroid hormone receptorJarkko Huuskonen
Cardiovascular Research Institute, San Francisco, California 94143 0130, USA
Biochemistry 43:1626-32. 2004..These data identify a novel regulatory mechanism for ABCA1 and suggest new strategies to modify its expression...
Symptom experience in HIV-infected adults: a function of demographic and clinical characteristicsKathryn A Lee
Department of Family Health Care Nursing, University of California, San Francisco, California 94143 0606, USA
J Pain Symptom Manage 38:882-93. 2009..Because high symptom burden is more likely to precipitate self-care strategies that may potentially be ineffective, strategies for symptom management would be better guided by tailored interventions from health care providers...
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control studyMelissa A Calton
Diabetes Center, University of California San Francisco, San Francisco, CA 94143, USA
Hum Mol Genet 18:1140-7. 2009..However, our data suggest that MC3R mutations are not associated with severe obesity in this population...
Risk factors and symptoms associated with pain in HIV-infected adultsBradley E Aouizerat
Department of Physiological Nursing and Institute for Human Genetics, University of California, San Francisco, USA
J Assoc Nurses AIDS Care 21:125-33. 2010..Pain was highly prevalent (55%) and was associated with immune status (CD4+ T-cell count), race, and sleep disturbance, but not with age, gender, or symptoms of fatigue, depression, or anxiety...
Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemiaMiklos Peterfy
Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
Nat Genet 39:1483-7. 2007..Thus, through its profound effect on lipase activity, LMF1 emerges as an important candidate gene in hypertriglyceridemia...
Apolipoprotein E e4 allele increases the risk of early postoperative delirium in older patients undergoing noncardiac surgeryJacqueline M Leung
Anesthesia and Perioperative Care, University of California, San Francisco, California 94143 0648, USA
Anesthesiology 107:406-11. 2007..Whether patients who subsequently develop early postoperative delirium have a genetic predisposition that renders them at risk for postoperative delirium has not been determined...
Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptorsChristian Zellner
Cardiovascular Research Institute, University of California, San Francisco 94143 0130, USA
Hum Mutat 25:18-21. 2005..Haplotype analysis suggests four SNPs can define the five major haplotypes that lie within a single haplotype block encompassing these two genes...
Plasma BIN1 correlates with heart failure and predicts arrhythmia in patients with arrhythmogenic right ventricular cardiomyopathyTing Ting Hong
Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA 94158, USA
Heart Rhythm 9:961-7. 2012..We hypothesized that BIN1 could be released into the circulation and that blood-available BIN1 can provide useful data on the cardiac status of patients whose hearts are failing secondary to ARVC...
Evaluation of polymorphisms in EWSR1 and risk of Ewing sarcoma: a report from the Childhood Cancer Survivor StudySteven G DuBois
Department of Pediatrics, UCSF School of Medicine, San Francisco, California 94143 0106, USA
Pediatr Blood Cancer 59:52-6. 2012..Ewing sarcoma is a malignant bone tumor characterized by a high frequency of somatic EWSR1 translocations. Ewing sarcoma is less common in people of African or African-American ancestry, suggesting a genetic etiology...
Genetic variation of PLTP modulates lipoprotein profiles in hypoalphalipoproteinemiaBradley E Aouizerat
Department of Physiological Nursing, School of Nursing, University of California San Francisco, San Francisco, CA 94143, USA
J Lipid Res 47:787-93. 2006..R235W) of four (p.E72G, p.S119A, p.S124Y, and p.R235W) mutations in an in vitro activity assay. These findings indicate that PLTP gene variation is an important determinant of plasma lipoproteins and affects disorders of HDL metabolism...
WW-domain-containing oxidoreductase is associated with low plasma HDL-C levelsJenny C Lee
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA
Am J Hum Genet 83:180-92. 2008..In conclusion, analyses of 9,798 subjects show significant association between HDL-C and a WWOX variant with an allele-specific cis-regulatory function...
Genetic analysis of a polymorphism in the human apoA-V gene: effect on plasma lipidsBradley E Aouizerat
Department of Physiological Nursing, University of California San Francisco, San Francisco, CA 94143, USA
J Lipid Res 44:1167-73. 2003..These findings indicate that APOAV is an important determinant of plasma TG and lipoprotein cholesterol, and is potentially a risk factor for cardiovascular disease...
Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotypeClive R Pullinger
Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA 94143 0130, USA
J Clin Invest 110:109-17. 2002..Study of the kindred, which is of English and Celtic background, revealed that individuals heterozygous for the mutation are also hyperlipidemic, indicating that this is a codominant disorder...
Identification of four gene variants associated with myocardial infarctionDov Shiffman
Celera Diagnostics, Alameda, CA, USA
Am J Hum Genet 77:596-605. 2005..58] and OR13G1 [OR 1.40]); all ORs are for carriers of two versus zero risk alleles. These findings could lead to a better understanding of MI pathophysiology and improved patient risk assessment...
Primary hypercholesterolemia: genetic causes and treatment of five monogenic disordersClive R Pullinger
Cardiovascular Research Institute, University of California, San Francisco, USA
Expert Rev Cardiovasc Ther 1:107-19. 2003..This review relates the mechanisms underlying these five disorders with specific therapeutic interventions...
Dynamic regulation of alternative ATP-binding cassette transporter A1 transcriptsJarkko Huuskonen
Cardiovascular Research Institute, University of California, San Francisco, CA 94143 0130, USA
Biochem Biophys Res Commun 306:463-8. 2003..In both cell lines class 3 transcript levels were minimal and unchanged. It is shown here for the first time that the regulation of ABCA1 mRNA levels exploits the use of alternative transcription start sites...
Lack of support for the association between GAD2 polymorphisms and severe human obesityMichael M Swarbrick
Diabetes Center, University of California, San Francisco, California, USA
PLoS Biol 3:e315. 2005....
Gene variants of VAMP8 and HNRPUL1 are associated with early-onset myocardial infarctionDov Shiffman
Celera Inc, 1401 Harbor Bay Pkwy, Alameda, California 94502, USA
Arterioscler Thromb Vasc Biol 26:1613-8. 2006..Identify gene variants associated with early-onset myocardial infarction (MI)...
Apolipoprotein L-I is positively associated with hyperglycemia and plasma triglycerides in CAD patients with low HDLTimothy S E Albert
Department of Medicine, University of Washington, Seattle, WA, USA
J Lipid Res 46:469-74. 2005..In conclusion, we found TG and HG to be the strongest predictors of apoL-I within a dyslipidemic CAD population. These data provide further characterization of the novel HDL-associated apoL-I...
Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemiaJeroen B van der Net
Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Eur Heart J 29:2195-201. 2008..We performed a replication study of 10 polymorphisms and CHD in a population with familial hypercholesterolemia (FH), individuals at extreme risk of CHD...
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease lociYing Liu
Division of Human Genetics, Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America
PLoS Genet 4:e1000041. 2008..This region harbors the interleukin 2 (IL2) and interleukin 21 (IL21) genes and was recently shown to be associated with four autoimmune diseases (Celiac disease, Type 1 diabetes, Grave's disease and Rheumatoid Arthritis)...
A polymorphism in the protease-like domain of apolipoprotein(a) is associated with severe coronary artery diseaseMay M Luke
Celera, 1401 Harbor Bay Parkway, Alameda, CA 94502, USA
Arterioscler Thromb Vasc Biol 27:2030-6. 2007..The purpose of this study was to identify genetic variants associated with severe coronary artery disease (CAD)...
Influence of an asparagine to lysine mutation at amino acid 3516 of apolipoprotein B on low-density lipoprotein receptor bindingDairena Gaffney
Department of Pathological Biochemistry, Glasgow Royal Infirmary, North Glasgow Hospital University NHS Trust, Fourth Floor, Queen Elizabeth Building, Alexandra Parade, Glasgow G31 2ER, Scotland, UK
Clin Chim Acta 321:113-21. 2002..Previously, undescribed mutations were sought...
