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Ancestry of the Timorese: age-related macular degeneration associated genotype and al

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  • Ancestry of the Timorese: age-related macular degeneration associated genotype and al

    Front Genet. 2015 Jul 9;6:238. doi: 10.3389/fgene.2015.00238. eCollection 2015.
    http://www.ncbi.nlm.nih.gov/pubmed/26217379

    Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world.
    Morrison MA1, Magalhaes TR2, Ramke J3, Smith SE1, Ennis S4, Simpson CL5, Portas L6, Murgia F6, Ahn J7, Dardenne C1, Mayne K1, Robinson R1, Morgan DJ1, Brian G3, Lee L8, Woo SJ9, Zacharaki F10, Tsironi EE10, Miller JW11, Kim IK11, Park KH9, Bailey-Wilson JE5, Farrer LA12, Stambolian D13, DeAngelis MM1.

    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 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.

  • #2
    My Nana had Macular Degeneration; my mother (her daughter) also had the beginning stages of it; my eye care provider is aware and has informed me I will have to be on the look out (pardon the pun) as he said my chances are high (due to Nana and Mom) that I could develop this as well. I don't know if my mtDNA haplogroup could/would have anything to do with it? (I am U3a1c with a Unique mutation in coding region; thus found in U3 mtdna project the only one with it).
    Thanks for posting.

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