The HD50AA set of Samples

Overview
Publications

Brief Description: Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.

Knappskog S, Gansmo LB, Romundstad P, Bjørnslett M, Trovik J, Sommerfelt-Pettersen J, Løkkevik E, Norwegian Breast Cancer Group trial NBCG VI E, Tollenaar RA, Seynaeve C, Devilee P, Salvesen HB, Dørum A, Hveem K, Vatten L, Lønning PE, MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk PloS one7:e36263 2012

PubMed ID: 22558411

Pakstis AJ, Speed WC, Fang R, Hyland FC, Furtado MR, Kidd JR, Kidd KK, SNPs for a universal individual identification panel Human genetics127(3):315-24 2010

PubMed ID: 19937056

Hawkins A, Meyers A, Bleecker R, Pack I, Identification Of Coding Polymorphisms In Human Circadian Rhythm Genes Per1, Per2, Per3, Clock, Arntl, Cry1, Cry2 And Timeless In A Multi-ethnic Screening Panel DNA Seq10:1 2007

PubMed ID: 17852344

Medici M, van Meurs JB, Rivadeneira F, Zhao H, Arp PP, Hofman A, Pols HA, Uitterlinden AG, BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research21:845-54 2006

PubMed ID: 16753015

Zhao C, Gustafsson JA, Dahlman-Wright K, Functional characterization of a novel variant of estrogen receptor beta identified in screening of DNA derived from African Americans Pharmacogenetics and genomics16:379-83 2006

PubMed ID: 16609371

Barnes KC, Grant AV, Baltadzhieva D, Zhang S, Berg T, Shao L, Zambelli-Weiner A, Anderson W, Nelsen A, Pillai S, Yarnall DP, Dienger K, Ingersoll RG, Scott AF, Fallin MD, Mathias RA, Beaty TH, Garcia JG, Wills-Karp M, Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families Genes and immunity7:27-35 2005

PubMed ID: 16355111

Fang Y, van Meurs JB, d'Alesio A, Jhamai M, Zhao H, Rivadeneira F, Hofman A, van Leeuwen JP, Jehan F, Pols HA, Uitterlinden AG, Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study. Am J Hum Genet77(5):807-23 2005

PubMed ID: 16252240

Lerman C, Wileyto EP, Patterson F, Rukstalis M, Audrain-McGovern J, Restine S, Shields PG, Kaufmann V, Redden D, Benowitz N, Berrettini WH, The functional mu opioid receptor (OPRM1) Asn40Asp variant predicts short-term response to nicotine replacement therapy in a clinical trial The pharmacogenomics journal4:184-92 2004

PubMed ID: 15007373

Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R, Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array Genome research14:414-25 2004

PubMed ID: 14993208

Murray SS, Oliphant A, Shen R, McBride C, Steeke RJ, Shannon SG, Rubano T, Kermani BG, Fan JB, Chee MS, Hansen MS, A highly informative SNP linkage panel for human genetic studies Nature methods1:113-7 2004

PubMed ID: 15782173

Stenzel A, Lu T, Koch WA, Hampe J, Guenther SM, De La Vega FM, Krawczak M, Schreiber S, Patterns of linkage disequilibrium in the MHC region on human chromosome 6p Human genetics114:377-85 2004

PubMed ID: 14740295

Avi-Itzhak HI, Su X, De La Vega FM, Selection of minimum subsets of single nucleotide polymorphisms to capture haplotype block diversity Pacific Symposium on Biocomputing Pacific Symposium on Biocomputing114:466-77 2003

PubMed ID: 12603050

Noonan JP, Li J, Nguyen L, Caoile C, Dickson M, Grimwood J, Schmutz J, Feldman MW, Myers RM, Extensive linkage disequilibrium, a common 167-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster American journal of human genetics72:621-35 2003

PubMed ID: 12577201

Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH, The GPR54 gene as a regulator of puberty The New England journal of medicine349:1614-27 2003

PubMed ID: 14573733

Ueyama H, Li YH, Fu GL, Lertrit P, Atchaneeyasakul LO, Oda S, Tanabe S, Nishida Y, Yamade S, Ohkubo I, An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency Proceedings of the National Academy of Sciences of the United States of America100:3357-62 2003

PubMed ID: 12626747

Wu X, Luke A, Rieder M, Lee K, Toth EJ, Nickerson D, Zhu X, Kan D, Cooper RS, An association study of angiotensinogen polymorphisms with serum level and hypertension in an African-American population Journal of hypertension21:1847-52 2003

PubMed ID: 14508190

Innocenti F, Grimsley C, Das S, Ramirez J, Cheng C, Kuttab-Boulos H, Ratain MJ, Di Rienzo A, Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics12(9):725-33 2002

PubMed ID: 12464801

Description: HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50

Aliquot Size: 10 µg each

Sex: Males: 14 Females: 36