id author title date pages extension mime words sentences flesch summary cache txt work_7n2voym2grhjpocfumswh5tooa Andrea R. Waksmunski Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish 2019.0 12 .pdf application/pdf 9785 1179 57 1-HLOD support interval of the linkage region on chromosome 18 is enriched in genes that participate in serine-type endopeptidase inhibitor activity and the positive regulation of epithelial to mesenchymal transition. To identify novel variants underlying the pathophysiology of AMD, we performed association and linkage analyses on Illumina HumanExome chip data for 175 related Table 1 AMD-associated variants identified with ROADTRIPS testing of Amish families AMD, age-related macular degeneration; ROADTRIPS, RObust Association-Detection Test for Related Individuals with Population Substructure; Chr., chromosome; LCN9, lipocalin 9; RTEL1, regulator of telomere elongation helicase 1; RTEL1-TNFRSF6B, RTEL1-TNFRSF6B linkage analysis on the markers on chromosome 1 with liability classes for carriers of two AMD risk variants in CFH Hoffman JD et al (2014) Rare complement factor H variant associated with age-related macular degeneration in the Amish. Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish ./cache/work_7n2voym2grhjpocfumswh5tooa.pdf ./txt/work_7n2voym2grhjpocfumswh5tooa.txt