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dc.contributor.authorMorrison, Margaux A.en_US
dc.contributor.authorMagalhaes, Tiago R.en_US
dc.contributor.authorRamke, Jacquelineen_US
dc.contributor.authorSmith, Silvia E.en_US
dc.contributor.authorEnnis, Seanen_US
dc.contributor.authorSimpson, Claire L.en_US
dc.contributor.authorPortas, Lauraen_US
dc.contributor.authorMurgia, Federicoen_US
dc.contributor.authorAhn, Jeeyunen_US
dc.contributor.authorDardenne, Caitlinen_US
dc.contributor.authorMayne, Katieen_US
dc.contributor.authorRobinson, Rosannen_US
dc.contributor.authorMorgan, Denise J.en_US
dc.contributor.authorBrian, Garryen_US
dc.contributor.authorLee, Lucyen_US
dc.contributor.authorWoo, Se J.en_US
dc.contributor.authorZacharaki, Fanien_US
dc.contributor.authorTsironi, Evangelia E.en_US
dc.contributor.authorMiller, Joan W.en_US
dc.contributor.authorKim, Ivana K.en_US
dc.contributor.authorPark, Kyu H.en_US
dc.contributor.authorBailey-Wilson, Joan E.en_US
dc.contributor.authorFarrer, Lindsay A.en_US
dc.contributor.authorStambolian, Dwighten_US
dc.contributor.authorDeAngelis, Margaret M.en_US
dc.date.accessioned2015-08-03T14:01:31Z
dc.date.issued2015en_US
dc.identifier.citationMorrison, M. A., T. R. Magalhaes, J. Ramke, S. E. Smith, S. Ennis, C. L. Simpson, L. Portas, et al. 2015. “Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world.” Frontiers in Genetics 6 (1): 238. doi:10.3389/fgene.2015.00238. http://dx.doi.org/10.3389/fgene.2015.00238.en
dc.identifier.issn1664-8021en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:17820781
dc.description.abstractWe observed that the third leading cause of blindness in the world, age-related macular degeneration (AMD), occurs at a very low documented frequency in a population-based cohort from Timor-Leste. Thus, we determined a complete catalog of the ancestry of the Timorese by analysis of whole exome chip data and haplogroup analysis of SNP genotypes determined by sequencing the Hypervariable I and II regions of the mitochondrial genome and 17 genotyped YSTR markers obtained from 535 individuals. We genotyped 20 previously reported AMD-associated SNPs in the Timorese to examine their allele frequencies compared to and between previously documented AMD cohorts of varying ethnicities. For those without AMD (average age > 55 years), genotype and allele frequencies were similar for most SNPs with a few exceptions. The major risk allele of HTRA1 rs11200638 (10q26) was at a significantly higher frequency in the Timorese, as well as 3 of the 5 protective CFH (1q32) SNPs (rs800292, rs2284664, and rs12066959). Additionally, the most commonly associated AMD-risk SNP, CFH rs1061170 (Y402H), was also seen at a much lower frequency in the Korean and Timorese populations than in the assessed Caucasian populations (C ~7 vs. ~40%, respectively). The difference in allele frequencies between the Timorese population and the other genotyped populations, along with the haplogroup analysis, also highlight the genetic diversity of the Timorese. Specifically, the most common ancestry groupings were Oceanic (Melanesian and Papuan) and Eastern Asian (specifically Han Chinese). The low prevalence of AMD in the Timorese population (2 of 535 randomly selected participants) may be due to the enrichment of protective alleles in this population at the 1q32 locus.en
dc.language.isoen_USen
dc.publisherFrontiers Media S.A.en
dc.relation.isversionofdoi:10.3389/fgene.2015.00238en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496576/pdf/en
dash.licenseLAAen_US
dc.subjectpopulation geneticsen
dc.subjectancestryen
dc.subjectage-related macular degenerationen
dc.subjectcomplex diseaseen
dc.subjectand epidemiologyen
dc.titleAncestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the worlden
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalFrontiers in Geneticsen
dash.depositing.authorMiller, Joan W.en_US
dc.date.available2015-08-03T14:01:31Z
dc.identifier.doi10.3389/fgene.2015.00238*
dash.authorsorderedfalse
dash.contributor.affiliatedMiller, Joan
dash.contributor.affiliatedKim, Ivana


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