Searching for improvements in predicting human eye colour from DNA.
International Journal Of Legal Medicine
Kukla-Bartoszek, Magdalena M; Teisseyre, Paweł P; Pośpiech, Ewelina E; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Płoski, Rafał R; Grzybowski, Tomasz T; Spólnicka, Magdalena M; Mielniczuk, Jan J; Branicki, Wojciech W
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Plos One
Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA
Publication Date: 2020
Variant appearance in text: OCA2: -22+132T>C; rs7495174
Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.
Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.
Human Molecular Genetics
Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L
Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.
Plos One
Nair-Shalliker, Visalini V; Egger, Sam S; Chrzanowska, Agata A; Mason, Rebecca R; Waite, Louise L; Le Couteur, David D; Seibel, Markus J MJ; Handelsman, David J DJ; Cumming, Robert R; Smith, David P DP; Armstrong, Bruce K BK
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.
Cell
Martin, Alicia R AR; Lin, Meng M; Granka, Julie M JM; Myrick, Justin W JW; Liu, Xiaomin X; Sockell, Alexandra A; Atkinson, Elizabeth G EG; Werely, Cedric J CJ; Möller, Marlo M; Sandhu, Manjinder S MS; Kingsley, David M DM; Hoal, Eileen G EG; Liu, Xiao X; Daly, Mark J MJ; Feldman, Marcus W MW; Gignoux, Christopher R CR; Bustamante, Carlos D CD; Henn, Brenna M BM
Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.
Plos One
Johansen, Peter P; Andersen, Jeppe Dyrberg JD; Madsen, Linnea Nørgård LN; Ullum, Henrik H; Glud, Martin M; Børsting, Claus C; Gniadecki, Robert R; Morling, Niels N
Crowdsourced direct-to-consumer genomic analysis of a family quartet.
Bmc Genomics
Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN
Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.
Plos Genetics
Marcheco-Teruel, Beatriz B; Parra, Esteban J EJ; Fuentes-Smith, Evelyn E; Salas, Antonio A; Buttenschøn, Henriette N HN; Demontis, Ditte D; Torres-Español, María M; Marín-Padrón, Lilia C LC; Gómez-Cabezas, Enrique J EJ; Alvarez-Iglesias, Vanesa V; Mosquera-Miguel, Ana A; Martínez-Fuentes, Antonio A; Carracedo, Angel A; Børglum, Anders D AD; Mors, Ole O
Using genetic proxies for lifecourse sun exposure to assess the causal relationship of sun exposure with circulating vitamin d and prostate cancer risk.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Bonilla, Carolina C; Gilbert, Rebecca R; Kemp, John P JP; Timpson, Nicholas J NJ; Evans, David M DM; Donovan, Jenny L JL; Hamdy, Freddie C FC; Neal, David E DE; Fraser, William D WD; Davey, Smith George SG; Lewis, Sarah J SJ; Lathrop, Mark M; Martin, Richard M RM
A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model.
A global view of the OCA2-HERC2 region and pigmentation.
Human Genetics
Donnelly, Michael P MP; Paschou, Peristera P; Grigorenko, Elena E; Gurwitz, David D; Barta, Csaba C; Lu, Ru-Band RB; Zhukova, Olga V OV; Kim, Jong-Jin JJ; Siniscalco, Marcello M; New, Maria M; Li, Hui H; Kajuna, Sylvester L B SL; Manolopoulos, Vangelis G VG; Speed, William C WC; Pakstis, Andrew J AJ; Kidd, Judith R JR; Kidd, Kenneth K KK
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
American Journal Of Human Genetics
Larsson, Mats M; Duffy, David L DL; Zhu, Gu G; Liu, Jimmy Z JZ; Macgregor, Stuart S; McRae, Allan F AF; Wright, Margaret J MJ; Sturm, Richard A RA; Mackey, David A DA; Montgomery, Grant W GW; Martin, Nicholas G NG; Medland, Sarah E SE
Model-based prediction of human hair color using DNA variants.
Human Genetics
Branicki, Wojciech W; Liu, Fan F; van Duijn, Kate K; Draus-Barini, Jolanta J; Pośpiech, Ewelina E; Walsh, Susan S; Kupiec, Tomasz T; Wojas-Pelc, Anna A; Kayser, Manfred M
Genetic differences between five European populations.
Human Heredity
Moskvina, Valentina V; Smith, Michael M; Ivanov, Dobril D; Blackwood, Douglas D; StClair, David D; Hultman, Christina C; Toncheva, Draga D; Gill, Michael M; Corvin, Aiden A; O'Dushlaine, Colm C; Morris, Derek W DW; Wray, Naomi R NR; Sullivan, Patrick P; Pato, Carlos C; Pato, Michele T MT; Sklar, Pamela P; Purcell, Shaun S; Holmans, Peter P; O'Donovan, Michael C MC; Owen, Michael J MJ; Kirov, George G; ,
Web-based, participant-driven studies yield novel genetic associations for common traits.
Plos Genetics
Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J
Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
Plos Genetics
Edwards, Melissa M; Bigham, Abigail A; Tan, Jinze J; Li, Shilin S; Gozdzik, Agnes A; Ross, Kendra K; Jin, Li L; Parra, Esteban J EJ
Genome-wide association study of tanning phenotype in a population of European ancestry.
The Journal Of Investigative Dermatology
Nan, Hongmei H; Kraft, Peter P; Qureshi, Abrar A AA; Guo, Qun Q; Chen, Constance C; Hankinson, Susan E SE; Hu, Frank B FB; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ; Han, Jiali J
A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
Plos Genetics
Han, Jiali J; Kraft, Peter P; Nan, Hongmei H; Guo, Qun Q; Chen, Constance C; Qureshi, Abrar A; Hankinson, Susan E SE; Hu, Frank B FB; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Martin, Nicholas G NG; Montgomery, Grant W GW; Hayward, Nicholas K NK; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
American Journal Of Human Genetics
Sturm, Richard A RA; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Leite, Fabio P N FP; Stark, Mitchell S MS; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW
Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
American Journal Of Human Genetics
Kayser, Manfred M; Liu, Fan F; Janssens, A Cecile J W AC; Rivadeneira, Fernando F; Lao, Oscar O; van Duijn, Kate K; Vermeulen, Mark M; Arp, Pascal P; Jhamai, Mila M MM; van Ijcken, Wilfred F J WF; den Dunnen, Johan T JT; Heath, Simon S; Zelenika, Diana D; Despriet, Dominiek D G DD; Klaver, Caroline C W CC; Vingerling, Johannes R JR; de Jong, Paulus T V M PT; Hofman, Albert A; Aulchenko, Yurii S YS; Uitterlinden, Andre G AG; Oostra, Ben A BA; van Duijn, Cornelia M CM
The diploid genome sequence of an individual human.
Plos Biology
Levy, Samuel S; Sutton, Granger G; Ng, Pauline C PC; Feuk, Lars L; Halpern, Aaron L AL; Walenz, Brian P BP; Axelrod, Nelson N; Huang, Jiaqi J; Kirkness, Ewen F EF; Denisov, Gennady G; Lin, Yuan Y; MacDonald, Jeffrey R JR; Pang, Andy Wing Chun AW; Shago, Mary M; Stockwell, Timothy B TB; Tsiamouri, Alexia A; Bafna, Vineet V; Bansal, Vikas V; Kravitz, Saul A SA; Busam, Dana A DA; Beeson, Karen Y KY; McIntosh, Tina C TC; Remington, Karin A KA; Abril, Josep F JF; Gill, John J; Borman, Jon J; Rogers, Yu-Hui YH; Frazier, Marvin E ME; Scherer, Stephen W SW; Strausberg, Robert L RL; Venter, J Craig JC
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
American Journal Of Human Genetics
Duffy, David L DL; Montgomery, Grant W GW; Chen, Wei W; Zhao, Zhen Zhen ZZ; Le, Lien L; James, Michael R MR; Hayward, Nicholas K NK; Martin, Nicholas G NG; Sturm, Richard A RA