@article {1273,
	title = {Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.},
	journal = {Hum Mol Genet},
	volume = {20},
	year = {2011},
	month = {2011 Jun 01},
	pages = {2273-84},
	abstract = {<p>The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. It is unknown if these variants confer susceptibility in people of African ancestry. Here, we examined genome-wide and candidate gene associations with systolic blood pressure (SBP) and diastolic blood pressure (DBP) using the Candidate Gene Association Resource (CARe) consortium consisting of 8591 AAs. Genotypes included genome-wide single-nucleotide polymorphism (SNP) data utilizing the Affymetrix 6.0 array with imputation to 2.5 million HapMap SNPs and candidate gene SNP data utilizing a 50K cardiovascular gene-centric array (ITMAT-Broad-CARe [IBC] array). For Affymetrix data, the strongest signal for DBP was rs10474346 (P= 3.6 {\texttimes} 10(-8)) located near GPR98 and ARRDC3. For SBP, the strongest signal was rs2258119 in C21orf91 (P= 4.7 {\texttimes} 10(-8)). The top IBC association for SBP was rs2012318 (P= 6.4 {\texttimes} 10(-6)) near SLC25A42 and for DBP was rs2523586 (P= 1.3 {\texttimes} 10(-6)) near HLA-B. None of the top variants replicated in additional AA (n = 11 882) or European-American (n = 69 899) cohorts. We replicated previously reported European-American blood pressure SNPs in our AA samples (SH2B3, P= 0.009; TBX3-TBX5, P= 0.03; and CSK-ULK3, P= 0.0004). These genetic loci represent the best evidence of genetic influences on SBP and DBP in AAs to date. More broadly, this work supports that notion that blood pressure among AAs is a trait with genetic underpinnings but also with significant complexity.</p>},
	keywords = {Adult, African Americans, Aged, Blood Pressure, Cohort Studies, Diastole, European Continental Ancestry Group, Female, Genetic Loci, Genome-Wide Association Study, Genotype, Humans, Hypertension, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Systole},
	issn = {1460-2083},
	doi = {10.1093/hmg/ddr092},
	author = {Fox, Ervin R and Young, J Hunter and Li, Yali and Dreisbach, Albert W and Keating, Brendan J and Musani, Solomon K and Liu, Kiang and Morrison, Alanna C and Ganesh, Santhi and Kutlar, Abdullah and Ramachandran, Vasan S and Polak, Josef F and Fabsitz, Richard R and Dries, Daniel L and Farlow, Deborah N and Redline, Susan and Adeyemo, Adebowale and Hirschorn, Joel N and Sun, Yan V and Wyatt, Sharon B and Penman, Alan D and Palmas, Walter and Rotter, Jerome I and Townsend, Raymond R and Doumatey, Ayo P and Tayo, Bamidele O and Mosley, Thomas H and Lyon, Helen N and Kang, Sun J and Rotimi, Charles N and Cooper, Richard S and Franceschini, Nora and Curb, J David and Martin, Lisa W and Eaton, Charles B and Kardia, Sharon L R and Taylor, Herman A and Caulfield, Mark J and Ehret, Georg B and Johnson, Toby and Chakravarti, Aravinda and Zhu, Xiaofeng and Levy, Daniel}
}
@article {1305,
	title = {Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.},
	journal = {Hum Mol Genet},
	volume = {20},
	year = {2011},
	month = {2011 Oct 15},
	pages = {4056-68},
	abstract = {<p>Serum urate concentrations are highly heritable and elevated serum urate is a key risk factor for gout. Genome-wide association studies (GWAS) of serum urate in African American (AA) populations are lacking. We conducted a meta-analysis of GWAS of serum urate levels and gout among 5820 AA and a large candidate gene study among 6890 AA and 21 708 participants of European ancestry (EA) within the Candidate Gene Association Resource Consortium. Findings were tested for replication among 1996 independent AA individuals, and evaluated for their association among 28 283 EA participants of the CHARGE Consortium. Functional studies were conducted using (14)C-urate transport assays in mammalian Chinese hamster ovary cells. In the discovery GWAS of serum urate, three loci achieved genome-wide significance (P< 5.0 {\texttimes} 10(-8)): a novel locus near SGK1/SLC2A12 on chromosome 6 (rs9321453, P= 1.0 {\texttimes} 10(-9)), and two loci previously identified in EA participants, SLC2A9 (P= 3.8 {\texttimes} 10(-32)) and SLC22A12 (P= 2.1 {\texttimes} 10(-10)). A novel rare non-synonymous variant of large effect size in SLC22A12, rs12800450 (minor allele frequency 0.01, G65W), was identified and replicated (beta -1.19 mg/dl, P= 2.7 {\texttimes} 10(-16)). (14)C-urate transport assays showed reduced urate transport for the G65W URAT1 mutant. Finally, in analyses of 11 loci previously associated with serum urate in EA individuals, 10 of 11 lead single-nucleotide polymorphisms showed direction-consistent association with urate among AA. In summary, we identified and replicated one novel locus in association with serum urate levels and experimentally characterize the novel G65W variant in URAT1 as a functional allele. Our data support the importance of multi-ethnic GWAS in the identification of novel risk loci as well as functional variants.</p>},
	keywords = {Adult, African Americans, Aged, Animals, CHO Cells, Cricetinae, European Continental Ancestry Group, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Gout, Humans, Loss of Heterozygosity, Male, Middle Aged, Organic Anion Transporters, Organic Cation Transport Proteins, Polymorphism, Single Nucleotide, Uric Acid, Young Adult},
	issn = {1460-2083},
	doi = {10.1093/hmg/ddr307},
	author = {Tin, Adrienne and Woodward, Owen M and Kao, Wen Hong Linda and Liu, Ching-Ti and Lu, Xiaoning and Nalls, Michael A and Shriner, Daniel and Semmo, Mariam and Akylbekova, Ermeg L and Wyatt, Sharon B and Hwang, Shih-Jen and Yang, Qiong and Zonderman, Alan B and Adeyemo, Adebowale A and Palmer, Cameron and Meng, Yan and Reilly, Muredach and Shlipak, Michael G and Siscovick, David and Evans, Michele K and Rotimi, Charles N and Flessner, Michael F and K{\"o}ttgen, Michael and Cupples, L Adrienne and Fox, Caroline S and K{\"o}ttgen, Anna}
}
