Genetics/Genomics Research
Collaborating Investigators:
- Bradley E. Aouizerat, PhD
- Mary Engler, RN, PhD
- John Kane, MD, MS, PhD
- Raphael Merriman, MD
The Genetics Program is centered on understanding the quantitative genetics (genomics) of common human disease to accelerate the translation of discoveries in basic science genetics (the bench) to clinical practice (the bedside).
Current Projects / Practice
Projects include a study of the role of common genetic variations in dyslipidemia, a risk factor for cardiovascular diseases. Research currently focuses on four clinical populations with discrete cardiovascular diseases: familial combined hyperlipidemia, hypoalphalipoproteinemia, hyperalphalipoproteinemia, and normolipidemic controls. Studies also address the impact of these same genetic variants on insulin resistance-related phenotypes, such as diabetes, obesity and non-alcoholic steatohepatitis.
Major Accomplishments
Successful identification of several candidate genes that play a role in familial combined hyperlipidemia, hypoalphalipoproteinemia and non-alcoholic steatohepatitis have expanded our understanding of the heritable underpinnings of these diseases. Investigators have identified mutations resulting in altered lipoprotein profiles within the following genes: the peroxisome proliferator-activated receptor alpha (PPARA) gene, the apolipoprotein A5 (APOA5) gene, the ATP-binding cassette transporter 1 (ABCA1) gene, and the adiponectin (apM-1) gene.
Current Grant Support
- UCSF School of Nursing
Genetic Determinants of Nonalcoholic Fatty Liver Disease
B. Aouizerat, Principal Investigator
- UCSF School of Medicine, The Liver Center
Adipocytokines: Genetic Determinants of Nonalcoholic Fatty Liver Disease
B. Aouizerat, Principal Investigator
- National Institute for Nursing Research, K01
Phospholipid Transfer Protein Mutations In Dyslipidemias
M. Engler, Principal Investigator
- UCSF Biostar Grant
Genomic Determinants of Coronary Disease
John P. Kane, Principal Investigator
B. Aouizerat, Co-Investigator
- National Institute of
Diabetes & Digestive & Kidney Diseases, K08
Genomic Determinants of Nonalcoholic Fatty Liver Disease
R. Merriman, Principal Investigator
B. Aouizerat, Collaborating Investigator
Recent Publications
- Aouizerat BE, Kulkarni K, Heilbron D, Drown D, Raskin S, Pullinger C Malloy M, Kane J. The Effect of Variation within the Human Apolipoprotein A-V Gene on Plasma Lipids. The Journal of Lipids 2003 44:1167-1173.
- Wung S-F, Aouizerat BE. Gender And Ethnic Differences In Cardiovascular Genetics: Using Apolipoprotein V Gene As An Exemplar. Research and Theory for Nursing Practice (in press).
- Aouizerat BE, Kane JP. Apolipoprotein A-II: active or passive role in Familial Combined Hyperlipidemia. Circulation Research. 2003 Jun 13; 92(11): 1179-81.
- Merriman R, Aouizerat B, Malloy M, Brunt E, Tetri B, Kane J, Bass N. A Variant of the Microsomal Triglyceride Transfer Protein Gene in Patients with Non-Alcoholic Steatohepatitis. (accepted for oral presentation, AASLD DDW2003).
Program Staff
- Medha Kulkarni, PhD
- Yanina Natanzon, BS
Contact Information
- Bradley Aouizerat, PhD
2 Koret Way, #N-725
UCSF Box 0610
San Francisco, CA 94143-0610
- Phone:
415-476-9534 (Lab) Fax: 415-476-8899
Email: bradley.aouizerat@nursing.ucsf.edu
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Revised: July 2003
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