Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population
Age-related macular degeneration (AMD) is the leading cause worldwide of severe visual impairment among people older than 55 years of age. This study aimed to investigate the genetic association between coding and untranslated region (UTR) variants in previously reported loci and exudative age-relat...
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Veröffentlicht in: | Journal of human genetics 2018-10, Vol.63 (10), p.1055-1070 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Age-related macular degeneration (AMD) is the leading cause worldwide of severe visual impairment among people older than 55 years of age. This study aimed to investigate the genetic association between coding and untranslated region (UTR) variants in previously reported loci and exudative age-related macular degeneration (wet AMD) in a Han Chinese population. Using our previously published whole exome sequencing dataset of 349 wet AMD patients and 1253 controls, we searched for associations between coding and UTR variants of the 72 genes located within the 47 reported wet AMD loci regions. From these, 25 variants in 18 of the 72 genes with P |
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ISSN: | 1434-5161 1435-232X |
DOI: | 10.1038/s10038-018-0490-3 |