Searched for: person:bea4
Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors
Zellner, Christian; Pullinger, Clive R; Aouizerat, Bradley E; Frost, Philip H; Kwok, Pui-Yan; Malloy, Mary J; Kane, John P
HM74 (GPR109B) and the highly homologous gene, HM74A (GPR109A) code for Gi-G protein-coupled orphan receptors that recently have been discovered to be involved in the metabolic effects of niacin. The B vitamin niacin is an important agent used in the treatment of dyslipidemias, but its use is limited by side effects. The novel role of the adjacent HM74 and HM74A genes in the metabolism of niacin may provide new targets for drug development. Human genetic variations in HM74 and HM74A have been reported but have not been studied in detail. These variations may play a role in the response to agents targeting receptors coded by these genes. Here we show that many of the nonsynonymous SNPs listed in public databases for HM74 and HM74A are artifacts resulting from extensive homology between these two genes. This may be representative of a neglected phenomenon in reporting sequences of highly homologous genes. We provide primer sequences that permit selective amplification of the complete coding regions of HM74 and HM74A. Using these primers, we show that subsequent sequencing of HM74 and HM74A reveals a novel and unique variation in the HM74A gene. Haplotype analysis suggests four SNPs can define the five major haplotypes that lie within a single haplotype block encompassing these two genes.
PMID: 15580557
ISSN: 1098-1004
CID: 1564572
Atherosclerosis
Chapter by: Aouizerat, Bradley
in: Cardiac nursing by Woods, Susan L [Eds]
Philadelphia : Lippincott Williams & Wilkins, 2005
pp. ?-?
ISBN: 9780781747189
CID: 1565092
Inflammation
Chapter by: Aouizerat, Bradley
in: Cardiac nursing by Woods, Susan L [Eds]
Philadelphia : Lippincott Williams & Wilkins, 2005
pp. ?-?
ISBN: 9780781747189
CID: 1565082
Genetics
Chapter by: Aouizerat, Bradley
in: Cardiac nursing by Woods, Susan L [Eds]
Philadelphia : Lippincott Williams & Wilkins, 2005
pp. ?-?
ISBN: 9780781747189
CID: 1565072
Newly mapped gene for thoracic aortic aneurysm and dissection
Wung, Shu-Fen; Aouizerat, Bradley E
Thoracic aortic aneurysm and dissection (TAAD) is associated with high mortality and medical expense. These poor outcomes are preventable by surgical repair; however, identifying at-risk individuals is difficult. Researchers are actively surveying the human genome (the repository of human genes) to characterize the genetic determinants of TAAD by identifying chromosomal regions likely to harbor such predisposing genes. In previous studies, investigators identified genetic markers shared by a subset of families who were ascertained to have the disease, which clustered into 2 chromosomal regions: 5q13-q15 (TAAD1) and 11q23.2-q24 (familial aortic aneurysm [FAA1]). In a subsequent study, a third chromosomal region at 3p24-25 (TAAD2) was found to contribute to TAAD in a 4-generation, 52-member family that displayed little evidence of sharing either the TAAD1 or FAA1 regions. Although additional regions of the genome may contribute to TAAD, investigators are focusing their efforts on identifying the actual genes and the specific mutations that participate in the disease process. The goal of these endeavors is to develop screening tests to identify individuals at risk for familial TAAD. This genetic discovery has significant clinical implications because high-risk individuals and families can be closely monitored and can benefit from preventative surgical repairs.
PMID: 15529063
ISSN: 0889-4655
CID: 1564582
The peptidoglycan recognition protein-L gene is associated with myocardial infarction [Meeting Abstract]
Malloy, MJ; Shiffman, D; Rowland, CM; Luke, MM; McAllister, LB; Liu, DM; Aouizerat, BE; Pullinger, CR; Zellner, C; Catanese, JJ; Leong, DU; Kane, JP; Devlin, JJ
ISI:000224783501171
ISSN: 0009-7322
CID: 1564772
A leptin variant with phenotype and genotype associations with NAFLD. [Meeting Abstract]
Merriman, RB; Aouizerat, BE; Kane, JP; Malloy, MJ; Bass, NM
ISI:000224102100976
ISSN: 0270-9139
CID: 1565052
Identification of novel genetic markers associated with risk of myocardial infarction from a genomic scale scan of putative functional polmorphisms [Meeting Abstract]
Shiffman, D; Luke, M; Iakoubova, O; Aouizerat, BE; Zellner, CA; Pullinger, CR; Drew, DW; Catanese, JJ; Leong, DU; Liu, DM; Louie, JZ; Lew, D; Tong, CH; Ross, DA; McAllister, LB; Rowland, CM; Lau, KF; Devlin, JJ; Malloy, MJ; Kane, JP
ISI:000189388502067
ISSN: 0735-1097
CID: 1565042
Apolipoprotein A-II: active or passive role in familial combined hyperlipidemia [Comment]
Aouizerat, Bradley E; Kane, John P
PMID: 12805235
ISSN: 1524-4571
CID: 1564592
Genetic analysis of a polymorphism in the human apoA-V gene: effect on plasma lipids
Aouizerat, Bradley E; Kulkarni, Medha; Heilbron, David; Drown, Donna; Raskin, Stephen; Pullinger, Clive R; Malloy, Mary J; Kane, John P
Recent discovery and characterization of APOAV suggests a role in metabolism of triglyceride (TG)-rich lipoproteins. Previously, variation at the APOAV locus was shown to modestly influence plasma TGs in normolipidemic samples. The aims of this study were to assess the effects of a polymorphism in APOAV (T-1131C) in terms of its frequency among three dyslipidemic populations and a control population, differences of allele frequency across available ethnic groups, and associations with specific lipoprotein TG and cholesterol compartments. We found a striking elevation in the frequency of the rare allele in a Chinese population (P = 0.0002) compared with Hispanic and European populations. The rare allele of the polymorphism was associated with elevated plasma TG (P = 0.012), VLDL cholesterol (P = 0.0007), and VLDL TG (P = 0.012), LDL TG (P = 0.003), and HDL TG (P = 0.016). Linear regression models predict that possession of the rare allele elevates plasma TG by 21 mg/dl (P = 0.009) and VLDL cholesterol by 8 mg/dl (P = 0.0001), and reduces HDL cholesterol by 2 mg/dl (P = 0.017). The association of the polymorphism with altered lipoprotein profiles was observed in combined hyperlipidemia, hypoalphalipoproteinemia, and hyperalphalipoproteinemia, and in controls. These findings indicate that APOAV is an important determinant of plasma TG and lipoprotein cholesterol, and is potentially a risk factor for cardiovascular disease.
PMID: 12671030
ISSN: 0022-2275
CID: 1564602