Coriell Institute

HAPMAPV12 HUMAN VARIATION PANEL

Description: INTERNATIONAL HAPMAP PROJECT - LUHYA FROM WEBUYE, KENYA

Aliquot Size: 50 µg each

Sex: Males: 45 Females: 45

Brief Description: These cell lines and DNA samples were prepared from blood samples collected from unrelated individuals from the Luhya people from Webuye, Kenya.

Ninety of these samples (45 males and 45 females) have been included in a panel designated as the HAPMAPV12 panel.

Pemberton, Trevor J., Wang, Chaolong, Li, Jun Z., and Rosenberg, Noah A., Inference of unexpected genetic relatedness among individuals in HapMap phase III Am J Hum Genet87:457-464 2010
PubMed ID: 20869033
 
Prescott NJ, Dominy KM, Kubo M, Lewis CM, Fisher SA, Redon R, Huang N, Stranger BE, Blaszczyk K, Hudspith B, Parkes G, Hosono N, Yamazaki K, Onnie CM, Forbes A, Dermitzakis ET, Nakamura Y, Mansfield JC, Sanderson J, Hurles ME, Roberts RG, Mathew CG, Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease Human molecular genetics19:1828-39 2010
PubMed ID: 20106866
 
Manolio TA, Brooks LD, Collins FS, A HapMap harvest of insights into the genetics of common disease The Journal of clinical investigation118:1590-605 2008
PubMed ID: 18451988
 
Yngvadottir B, Xue Y, Searle S, Hunt S, Delgado M, Morrison J, Whittaker P, Deloukas P, Tyler-Smith C, A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs American journal of human genetics84:224-34 2008
PubMed ID: 19200524
 
Xu Y, Xue Y, Asan Y, Daly A, Wu L, Tyler-Smith C, Variation of the oxytocin/neurophysin I (OXT) gene in four human populations Journal of human genetics53:637-43 2007
PubMed ID: 18566739
 
Yu Y, Panhuysen C, Kranzler HR, Hesselbrock V, Rounsaville B, Weiss R, Brady K, Farrer LA, Gelernter J, Intronic variants in the dopa decarboxylase (DDC) gene are associated with smoking behavior in European-Americans and African-Americans Human molecular genetics15:2192-9 2006
PubMed ID: 16740595
 
O'Shaughnessy KM, HapMap, pharmacogenomics, and the goal of personalized prescribing British journal of clinical pharmacology61:783-6 2006
PubMed ID: 16722846
 
Andrulionyte L, Peltola P, Chiasson JL, Laakso M, STOP-NIDDM Study Group M, Single nucleotide polymorphisms of PPARD in combination with the Gly482Ser substitution of PGC-1A and the Pro12Ala substitution of PPARG2 predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial Diabetes55:2148-52 2006
PubMed ID: 16804087
 
Sabeti PC, Schaffner SF, Fry B, Lohmueller J, Varilly P, Shamovsky O, Palma A, Mikkelsen TS, Altshuler D, Lander ES, Positive natural selection in the human lineage Science312:1614-20 2006
PubMed ID: 16778047
 
Pe'er I, de Bakker PI, Maller J, Yelensky R, Altshuler D, Daly MJ, Evaluating and improving power in whole-genome association studies using fixed marker sets Nature genetics38:663-7 2006
PubMed ID: 16715096
 
Macgregor S, Visscher PM, Montgomery G, Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates Nucleic acids research34:e55 2006
PubMed ID: 16627870
 
Nakatani N, Hattori E, Ohnishi T, Dean B, Iwayama Y, Matsumoto I, Kato T, Osumi N, Higuchi T, Niwa S, Yoshikawa T, Genome-wide expression analysis detects eight genes with robust alterations specific to bipolar I disorder: relevance to neuronal network perturbation Human molecular genetics15:1949-62 2006
PubMed ID: 16687443
 
Min JL, Meulenbelt I, Riyazi N, Kloppenburg M, Houwing-Duistermaat JJ, Seymour AB, van Duijn CM, Slagboom PE, Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand Annals of the rheumatic diseases65:1060-6 2006
PubMed ID: 16396979
 
Carlson CS, Agnosticism and equity in genome-wide association studies Nature genetics38:605-6 2006
PubMed ID: 16736010
 
Barrett JC, Cardon LR, Evaluating coverage of genome-wide association studies Nature genetics38:659-62 2006
PubMed ID: 16715099
 
Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, Wichmann HE, Marbán E, O'Donnell CJ, Hirschhorn JN, Kääb S, Spooner PM, Meitinger T, Chakravarti A, A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization Nature genetics38:644-51 2006
PubMed ID: 16648850
 
Marchini J, Cutler D, Patterson N, Stephens M, Eskin E, Halperin E, Lin S, Qin ZS, Munro HM, Abecasis GR, Donnelly P; International HapMap Consortium., A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet78(3):437-50 2006
PubMed ID: 16465620
 
Greenawalt DM, Cui X, Wu Y, Lin Y, Wang HY, Luo M, Tereshchenko IV, Hu G, Li JY, Chu Y, Azaro MA, Decoste CJ, Chimge NO, Gao R, Shen L, Shih WJ, Lange K, Li H, Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21. Genome Res16(2):208-14 2006
PubMed ID: 16385099
 
Ribas G, Gonzalez-Neira A, Salas A, Milne RL, Vega A, Carracedo B, Gonzalez E, Barroso E, Fernandez LP, Yankilevich P, Robledo M, Carracedo A, Benitez J., Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet118(6):669-79 2006
PubMed ID: 16323010
 
Stankovich J, Cox CJ, Tan RB, Montgomery DS, Huxtable SJ, Rubio JP, Ehm MG, Johnson L, Butzkueven H, Kilpatrick TJ, Speed TP, Roses AD, Bahlo M, Foote SJ, On the utility of data from the International HapMap Project for Australian association studies. Hum Genet119(1-2):220-2 2006
PubMed ID: 16404587
 
Steemers FJ, Chang W, Lee G, Barker DL, Shen R, Gunderson KL, Whole-genome genotyping with the single-base extension assay. Nat Methods3(1):31-3 2006
PubMed ID: 16369550
 
Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK, A high-resolution survey of deletion polymorphism in the human genome. Nat Genet38(1):75-81 2006
PubMed ID: 16327808
 
Helgadottir A, Manolescu A, Helgason A, Thorleifsson G, Thorsteinsdottir U, Gudbjartsson DF, Gretarsdottir S, Magnusson KP, Gudmundsson G, Hicks A, Jonsson T, Grant SF, Sainz J, O'Brien SJ, Sveinbjornsdottir S, Valdimarsson EM, Matthiasson SE, Levey AI, Abramson JL, Reilly MP, Vaccarino V, Wolfe ML, Gudnason V, Quyyumi AA, Topol EJ, Rader DJ, Thorgeirsson G, Gulcher JR, Hakonarson H, Kong A, Stefansson K, A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nat Genet38(1):68-74 2006
PubMed ID: 16282974
 
Silberberg G, Darvasi A, Pinkas-Kramarski R, Navon R, The involvement of ErbB4 with schizophrenia: association and expression studies. Am J Med Genet B Neuropsychiatr Genet141(2):142-8 2006
PubMed ID: 16402353
 
Garcia-Barcelo M, So MT, Lau DK, Leon TY, Yuan ZW, Cai WS, Lui VC, Fu M, Herbrick JA, Gutter E, Proud V, Li L, Pierre-Louis J, Aleck K, van Heurn E, Belloni E, Scherer SW, Tam PK, Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome. Clin Chem52(1):46-52 2006
PubMed ID: 16254195
 
Ireland J, Carlton VE, Falkowski M, Moorhead M, Tran K, Useche F, Hardenbol P, Erbilgin A, Fitzgerald R, Willis TD, Faham M, Large-scale characterization of public database SNPs causing non-synonymous changes in three ethnic groups. Hum Genet119(1-2):75-83 2006
PubMed ID: 16391945
 
McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM; International HapMap Consortium, Common deletion polymorphisms in the human genome. Nat Genet38(1):86-92 2006
PubMed ID: 16468122
 
Taylor JA, Xu ZL, Kaplan NL, Morris RW, How well do HapMap haplotypes identify common haplotypes of genes? A comparison with haplotypes of 334 genes resequenced in the environmental genome project. Cancer Epidemiol Biomarkers Prev15(1):133-7 2006
PubMed ID: 16434598
 
Zhu H, Yang W, Lu W, Zhang J, Shaw GM, Lammer EJ, Finnell RH, A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida. Mol Genet Metab87(1):66-70 2006
PubMed ID: 16256389
 
Auro K, Komulainen K, Alanne M, Silander K, Peltonen L, Perola M, Salomaa V, Thrombomodulin gene polymorphisms and haplotypes and the risk of cardiovascular events: a prospective follow-up study Arteriosclerosis, thrombosis, and vascular biology26:942-7 2006
PubMed ID: 16456088
 
Herbert A, Gerry NP, McQueen MB, Heid IM, Pfeufer A, Illig T, Wichmann HE, Meitinger T, Hunter D, Hu FB, Colditz G, Hinney A, Hebebrand J, Koberwitz K, Zhu X, Cooper R, Ardlie K, Lyon H, Hirschhorn JN, Laird NM, Lenburg ME, Lange C, Christman MF, A common genetic variant is associated with adult and childhood obesity Science312:279-83 2006
PubMed ID: 16614226
 
Kathiresan S, Larson MG, Vasan RS, Guo CY, Gona P, Keaney JF, Wilson PW, Newton-Cheh C, Musone SL, Camargo AL, Drake JA, Levy D, O'Donnell CJ, Hirschhorn JN, Benjamin EJ, Contribution of clinical correlates and 13 C-reactive protein gene polymorphisms to interindividual variability in serum C-reactive protein level Circulation113:1415-23 2006
PubMed ID: 16534007
 
Gunderson KL, Kuhn KM, Steemers FJ, Ng P, Murray SS, Shen R, Whole-genome genotyping of haplotype tag single nucleotide polymorphisms Pharmacogenomics7:641-8 2006
PubMed ID: 16768648
 
García-Martín E, Martínez C, Ladero JM, Agúndez JA, Interethnic and intraethnic variability of CYP2C8 and CYP2C9 polymorphisms in healthy individuals Molecular diagnosis & therapy10:29-40 2006
PubMed ID: 16646575
 
Arnold PD, Sicard T, Burroughs E, Richter MA, Kennedy JL, Glutamate transporter gene SLC1A1 associated with obsessive-compulsive disorder Archives of general psychiatry63:769-76 2006
PubMed ID: 16818866
 
Iwamoto T, Ikari K, Nakamura T, Kuwahara M, Toyama Y, Tomatsu T, Momohara S, Kamatani N, Association between PADI4 and rheumatoid arthritis: a meta-analysis Rheumatology (Oxford, England)45:804-7 2006
PubMed ID: 16449362
 
Kathiresan S, Yang Q, Larson MG, Camargo AL, Tofler GH, Hirschhorn JN, Gabriel SB, O'Donnell CJ, Common genetic variation in five thrombosis genes and relations to plasma hemostatic protein level and cardiovascular disease risk Arteriosclerosis, thrombosis, and vascular biology26:1405-12 2006
PubMed ID: 16614319
 
Lim JE, Papp A, Pinsonneault J, Sadée W, Saffen D, Allelic expression of serotonin transporter (SERT) mRNA in human pons: lack of correlation with the polymorphism SERTLPR Molecular psychiatry11:649-62 2006
PubMed ID: 16432527
 
Florez JC, Wiltshire S, Agapakis CM, Burtt NP, de Bakker PI, Almgren P, Bengtsson Bostrom K, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, McCarthy MI, Altshuler D, Groop L, High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people. Diabetes55(1):128-35 2006
PubMed ID: 16380485
 
Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE, High-throughput genotyping of intermediate-size structural variation Human molecular genetics15:1159-67 2006
PubMed ID: 16497726
 
Pastinen T, Ge B, Hudson TJ, Influence of human genome polymorphism on gene expression Human molecular genetics15 Spec No 1:R9-16 2006
PubMed ID: 16651375
 
Plenge R, Rioux JD, Identifying susceptibility genes for immunological disorders: patterns, power, and proof Immunological reviews210:40-51 2006
PubMed ID: 16623763
 
Spinola M, Meyer P, Kammerer S, Falvella FS, Boettger MB, Hoyal CR, Pignatiello C, Fischer R, Roth RB, Pastorino U, Haeussinger K, Nelson MR, Dierkesmann R, Dragani TA, Braun A, Association of the PDCD5 locus with lung cancer risk and prognosis in smokers Journal of clinical oncology : official journal of the American Society of Clinical Oncology24:1672-8 2006
PubMed ID: 16549820
 
Sun MW, Lee JY, de Bakker PI, Burtt NP, Almgren P, Råstam L, Tuomi T, Gaudet D, Daly MJ, Hirschhorn JN, Altshuler D, Groop L, Florez JC, Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes Diabetes55:849-55 2006
PubMed ID: 16505254
 
Weigmann K, Racial medicine: here to stay? The success of the International HapMap Project and other initiatives may help to overcome racial profiling in medicine, but old habits die hard EMBO reports7:246-9 2006
PubMed ID: 16607392
 
Williams NM, Green EK, Macgregor S, Dwyer S, Norton N, Williams H, Raybould R, Grozeva D, Hamshere M, Zammit S, Jones L, Cardno A, Kirov G, Jones I, O'Donovan MC, Owen MJ, Craddock N, Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder Archives of general psychiatry63:366-73 2006
PubMed ID: 16585465
 
Siitonen N, Pulkkinen L, Mager U, Lindström J, Eriksson JG, Valle TT, Hämäläinen H, Ilanne-Parikka P, Keinänen-Kiukaanniemi S, Tuomilehto J, Laakso M, Uusitupa M, Association of sequence variations in the gene encoding adiponectin receptor 1 (ADIPOR1) with body size and insulin levels The Finnish Diabetes Prevention Study Diabetologia49:1795-805 2006
PubMed ID: 16724230
 
Pandit B, Ahn GS, Hazard SE, Gordon D, Patel SB, A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans BMC medical genetics [electronic resource]7:13 2005
PubMed ID: 16507104
 
Xue Y, Daly A, Yngvadottir B, Liu M, Coop G, Kim Y, Sabeti P, Chen Y, Stalker J, Huckle E, Burton J, Leonard S, Rogers J, Tyler-Smith C, Spread of an inactive form of caspase-12 in humans is due to recent positive selection American journal of human genetics78:659-70 2005
PubMed ID: 16532395
 
Pe'er I, Chretien YR, de Bakker PI, Barrett JC, Daly MJ, Altshuler DM, Biases and reconciliation in estimates of linkage disequilibrium in the human genome American journal of human genetics78:588-603 2005
PubMed ID: 16532390
 
Foster, M., Genetics and social identity after the HapMap. Nature Rev Genet6:1 2005
PubMed ID: 16532390
 
Hamilton G, Samedi F, Knight J, Archer N, Foy C, Walter S, Turic D, Jehu L, Moore P, Hollingworth P, O'Donovan MC, Williams J, Owen MJ, Lovestone S, Powell JF, Polymorphisms in the phosphate and tensin homolog gene are not associated with late-onset Alzheimer's disease Neuroscience letters401:77-80 2005
PubMed ID: 16574322
 
Hanchard N, Diakite M, Koch O, Keating B, Pinder M, Jallow M, Sisay-Joof F, Nijnik A, Wilson J, Udalova I, Kwiatkowski D, Rockett K, Implications of inter-population linkage disequilibrium patterns on the approach to a disease association study in the human MHC class III Immunogenetics58:465-70 2005
PubMed ID: 16738941
 
Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS, Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria Molecular genetics and metabolism87:219-25 2005
PubMed ID: 16410054
 
Jorde LB, Evolution. Where we're hot, they're not. Science308(5718):60-2 2005
PubMed ID: 15802591
 
Kammerer S, Roth RB, Hoyal CR, Reneland R, Marnellos G, Kiechle M, Schwarz-Boeger U, Griffiths LR, Ebner F, Rehbock J, Cantor CR, Nelson MR, Braun A, Association of the NuMA region on chromosome 11q13 with breast cancer susceptibility. Proc Natl Acad Sci U S A102(6):2004-9 2005
PubMed ID: 15684076
 
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J, Complement factor H polymorphism in age-related macular degeneration. Science308(5720):385-9 2005
PubMed ID: 15761122
 
Qu H, Tessier MC, Hudson TJ, Polychronakos C, Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. J Med Genet42(3):266-70 2005
PubMed ID: 15744042
 
Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium, A haplotype map of the human genome. Nature437(7063):1299-320 2005
PubMed ID: 16255080
 
Goldstein DB, Cavalleri GL, Genomics: understanding human diversity. Nature437(7063):1241-2 2005
PubMed ID: 16251937
 
Thorisson GA, Smith AV, Krishnan L, Stein LD, The International HapMap Project Web site. Genome Res15(11):1592-3 2005
PubMed ID: 16251469
 
Clark AG, Hubisz MJ, Bustamante CD, Williamson SH, Nielsen R, Ascertainment bias in studies of human genome-wide polymorphism. Genome Res15(11):1496-502 2005
PubMed ID: 16251459
 
de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D, Efficiency and power in genetic association studies. Nat Genet37(11):1217-23 2005
PubMed ID: 16244653
 
Ge B, Gurd S, Gaudin T, Dore C, Lepage P, Harmsen E, Hudson TJ, Pastinen T, Survey of allelic expression using EST mining. Genome Res15(11):1584-91 2005
PubMed ID: 16251468
 
Geisen C, Watzka M, Sittinger K, Steffens M, Daugela L, Seifried E, Muller CR, Wienker TF, Oldenburg J, VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation. Thromb Haemost94(4):773-9 2005
PubMed ID: 16270629
 
Nielsen R, Williamson S, Kim Y, Hubisz MJ, Clark AG, Bustamante C, Genomic scans for selective sweeps using SNP data. Genome Res15(11):1566-75 2005
PubMed ID: 16251466
 
Smith AV, Thomas DJ, Munro HM, Abecasis GR, Sequence features in regions of weak and strong linkage disequilibrium. Genome Res15(11):1519-34 2005
PubMed ID: 16251462
 
Weir BS, Cardon LR, Anderson AD, Nielsen DM, Hill WG, Measures of human population structure show heterogeneity among genomic regions. Genome Res15(11):1468-76 2005
PubMed ID: 16251456
 
Andrawiss M, First phase of HapMap project already helping drug discovery. Nat Rev Drug Discov4(12):947 2005
PubMed ID: 16370072
 
Fry AE, Trafford CJ, Kimber MA, Chan MS, Rockett KA, Kwiatkowski DP, Haplotype homozygosity and derived alleles in the human genome American journal of human genetics78:1053-9 2005
PubMed ID: 16685655
 
Evans PD, Vallender EJ, Lahn BT, Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ Gene375:75-9 2005
PubMed ID: 16631324
 
Zhang Y, Niu T, Liu JS, A coalescence-guided hierarchical Bayesian method for haplotype inference American journal of human genetics79:313-22 2005
PubMed ID: 16826521
 
Soyal S, Krempler F, Oberkofler H, Patsch W, PGC-1alpha: a potent transcriptional cofactor involved in the pathogenesis of type 2 diabetes Diabetologia49:1477-88 2005
PubMed ID: 16752166
 
Shimizu H, Iwayama Y, Yamada K, Toyota T, Minabe Y, Nakamura K, Nakajima M, Hattori E, Mori N, Osumi N, Yoshikawa T, Genetic and expression analyses of the STOP (MAP6) gene in schizophrenia Schizophrenia research84:244-52 2005
PubMed ID: 16624526



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