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Search: onr:"swepub:oai:DiVA.org:uu-390776" > Meta-analysis of GW...

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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007713naa a2200709 4500
001oai:DiVA.org:uu-390776
003SwePub
008190816s2019 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3907762 URI
0247 a https://doi.org/10.1186/s12863-019-0765-52 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Lona-Durazo, Fridau Univ Toronto, Dept Anthropol, Hlth Sci Complex,Room 352, Mississauga, ON L5L 1C6, Canada4 aut
2451 0a Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations
264 c 2019-07-17
264 1b BMC,c 2019
338 a electronic2 rdacarrier
520 a Background: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.Results: We present a GWAS of skin pigmentation in an admixed sample from Cuba (N=762). Additionally, we conducted a meta-analysis including the Cuban sample, and admixed samples from Cape Verde, Puerto Rico and African-Americans from San Francisco. This meta-analysis is one of the largest efforts so far to characterize the genetic basis of skin pigmentation in admixed populations (N=2,104). We identified five genome-wide significant regions in the meta-analysis, and explored if the markers observed in these regions are associated with the expression of relevant pigmentary genes in human melanocyte cultures. In three of the regions identified in the meta-analysis (SLC24A5, SLC45A2, and GRM5/TYR), the association seems to be driven by non-synonymous variants (rs1426654, rs16891982, and rs1042602, respectively). The rs16891982 polymorphism is strongly associated with the expression of the SLC45A2 gene. In the GRM5/TYR region, in addition to the rs1042602 non-synonymous SNP located on the TYR gene, variants located in the nearby GRM5 gene have an independent effect on pigmentation, possibly through regulation of gene expression of the TYR gene. We also replicated an association recently described near the MFSD12 gene on chromosome 19 (lead variant rs112332856). Additionally, our analyses support the presence of multiple signals in the OCA2/HERC2/APBA2 region on chromosome 15. A clear causal candidate is the HERC2 intronic variant rs12913832, which has a profound influence on OCA2 expression. This variant has pleiotropic effects on eye, hair, and skin pigmentation. However, conditional and haplotype-based analyses indicate the presence of other variants with independent effects on melanin levels in OCA2 and APBA2. Finally, a follow-up of genome-wide signals identified in a recent GWAS for tanning response indicates that there is a substantial overlap in the genetic factors influencing skin pigmentation and tanning response.Conclusions: Our meta-analysis of skin pigmentation GWAS in recently admixed populations provides new insights about the genetic architecture of this complex trait.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653 a Skin pigmentation
653 a Genome-wide association study
653 a Admixed populations
653 a Meta-analysis
653 a Complex trait
653 a Gene expression
653 a Haplotype
7001 a Hernandez-Pacheco, Nataliau Univ La Laguna, Res Unit, Hosp Univ NS de Candelaria, Santa Cruz De Tenerife, Spain;Univ La Laguna, Genom & Hlth Grp, Dept Biochem Microbiol Cell Biol & Genet, Tenerife, Spain4 aut
7001 a Fan, Shaohuau Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA4 aut
7001 a Zhang, Tongwuu NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA4 aut
7001 a Choi, Jiyeonu NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA4 aut
7001 a Kovacs, Michael A.u NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA4 aut
7001 a Loftus, Stacie K.u NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA4 aut
7001 a Le, Phuong4 aut
7001 a Edwards, Melissau Univ Toronto, Dept Anthropol, Hlth Sci Complex,Room 352, Mississauga, ON L5L 1C6, Canada4 aut
7001 a Fortes-Lima, Cesar A.u Uppsala universitet,Människans evolution,Univ Paris Diderot, Evolutionary Anthropol Team, Lab Ecoanthropol & Ethnobiol UMR7206, CNRS,MNHN,Musee Homme, Paris, France4 aut0 (Swepub:uu)cesfo882
7001 a Eng, Celesteu Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA4 aut
7001 a Huntsman, Scottu Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA4 aut
7001 a Hu, Dongleiu Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA4 aut
7001 a Javier Gomez-Cabezas, Enriqueu Ctr Sociol & Psychol Res, Havana, Cuba4 aut
7001 a Caridad Marin-Padron, Liliau Med Univ Havana, Natl Ctr Med Genet, Havana, Cuba4 aut
7001 a Grauholm, Jonasu Statens Serum Inst, Dept Congenital Disorders, Copenhagen, Denmark4 aut
7001 a Mors, Oleu Aarhus Univ, Translat Neuropsychiat Unit, Dept Clin Med, Aarhus, Denmark;Aarhus Univ, Lundbeck Fdn Initiat Integrat Psychiat Res, Aarhus, Denmark;Aarhus Univ Hosp, Psychiat Dept, Aarhus, Denmark4 aut
7001 a Burchard, Esteban G.u Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA4 aut
7001 a Norton, Heather L.u Univ Cincinnati, Dept Anthropol, Cincinnati, OH USA4 aut
7001 a Pavan, William J.u NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA4 aut
7001 a Brown, Kevin M.u NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA4 aut
7001 a Tishkoff, Sarahu Univ Penn, Dept Genet, Perelman Sch Med, Philadelphia, PA 19104 USA;Univ Penn, Dept Biol, Sch Arts & Sci, Philadelphia, PA 19104 USA4 aut
7001 a Pino-Yanes, Mariau Univ La Laguna, Genom & Hlth Grp, Dept Biochem Microbiol Cell Biol & Genet, Tenerife, Spain;Inst Salud Carlos III, CIBER Enfermedades Resp, Madrid, Spain;Univ La Laguna, ITB, Santa Cruz De Tenerife, Spain4 aut
7001 a Beleza, Sandrau Univ Leicester, Dept Genet & Genome Biol, Coll Life Sci, Leicester, Leics, England4 aut
7001 a Marcheco-Teruel, Beatrizu Med Univ Havana, Natl Ctr Med Genet, Havana, Cuba4 aut
7001 a Parra, Esteban J.u Univ Toronto, Dept Anthropol, Hlth Sci Complex,Room 352, Mississauga, ON L5L 1C6, Canada4 aut
7102 a Univ Toronto, Dept Anthropol, Hlth Sci Complex,Room 352, Mississauga, ON L5L 1C6, Canadab Univ La Laguna, Res Unit, Hosp Univ NS de Candelaria, Santa Cruz De Tenerife, Spain;Univ La Laguna, Genom & Hlth Grp, Dept Biochem Microbiol Cell Biol & Genet, Tenerife, Spain4 org
7730 t BMC Geneticsd : BMCg 20q 20x 1471-2156
8564 u https://doi.org/10.1186/s12863-019-0765-5y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1343491/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://bmcgenomdata.biomedcentral.com/track/pdf/10.1186/s12863-019-0765-5
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-390776
8564 8u https://doi.org/10.1186/s12863-019-0765-5

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