AUTHOR=Morrison Margaux A., Magalhaes Tiago R., Ramke Jacqueline , Smith Silvia E., Ennis Sean , Simpson Claire L., Portas Laura , Murgia Federico , Ahn Jeeyun , Dardenne Caitlin , Mayne Katie , Robinson Rosann , Morgan Denise J., Brian Garry , Lee Lucy , Woo Se Joon , Zacharaki Fani , Tsironi Evangelia E., Miller Joan W., Kim Ivana K., Park Kyu Hyung , Bailey-Wilson Joan E., Farrer Lindsay A., Stambolian Dwight , DeAngelis Margaret M. TITLE=Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world JOURNAL=Frontiers in Genetics VOLUME=6 YEAR=2015 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2015.00238 DOI=10.3389/fgene.2015.00238 ISSN=1664-8021 ABSTRACT=
We 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