VSports最新版本 - Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The . gov means it’s official VSports app下载. Federal government websites often end in . gov or . mil. Before sharing sensitive information, make sure you’re on a federal government site. .

Https

The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely. V体育官网.

. 2014 Apr 15;9(4):e94165.
doi: 10.1371/journal.pone.0094165. eCollection 2014.

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration

Maheswara R Duvvari  1 , Codrut C Paun  1 , Gabriëlle H S Buitendijk  2 , Nicole T M Saksens  3 , Elena B Volokhina  4 , Tina Ristau  5 , Frederieke E Schoenmaker-Koller  3 , Johannes P H van de Ven  3 , Joannes M M Groenewoud  6 , Lambertus P W J van den Heuvel  4 , Albert Hofman  7 , Sascha Fauser  5 , André G Uitterlinden  8 , Caroline C W Klaver  2 , Carel B Hoyng  3 , Eiko K de Jong  1 , Anneke I den Hollander  9
Affiliations

Analysis of rare variants in the C3 gene in patients with age-related macular degeneration

Maheswara R Duvvari et al. PLoS One. .

VSports最新版本 - Abstract

Age-related macular degeneration (AMD) is a progressive retinal disorder affecting over 33 million people worldwide VSports手机版. Genome-wide association studies (GWASs) for AMD identified common variants at 19 loci accounting for 15-65% of the heritability and it has been hypothesized that the missing heritability may be attributed to rare variants with large effect sizes. Common variants in the complement component 3 (C3) gene have been associated with AMD and recently a rare C3 variant (Lys155Gln) was identified which exerts a large effect on AMD susceptibility independent of the common variants. To explore whether additional rare variants in the C3 gene are associated with AMD, we sequenced all coding exons in 84 unrelated AMD cases. Subsequently, we genotyped all identified variants in 1474 AMD cases and 2258 controls. Additionally, because of the known genetic overlap between AMD and atypical hemolytic uremic syndrome (aHUS), we genotyped two recurrent aHUS-associated C3 mutations in the entire cohort. Overall, we identified three rare variants (Lys65Gln (P=0. 04), Arg735Trp (OR=17. 4, 95% CI=2. 2-136; P=0. 0003), and Ser1619Arg (OR=5. 2, 95% CI=1. 0-25; P=0. 05) at the C3 locus that are associated with AMD in our EUGENDA cohort. However, the Arg735Trp and Ser1619Arg variants were not found to be associated with AMD in the Rotterdam Study. The Lys65Gln variant was only identified in patients from Nijmegen, the Netherlands, and thus may represent a region-specific AMD risk variant. .

PubMed Disclaimer

Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

References

    1. de Jong PT (2006) Age-related macular degeneration. N Engl J Med 355: 1474–1485. - PubMed
    1. The Global Economic Cost of Visual Impairment, The International Council of Ophthalmology website. Available: http://www.icoph.org/resources/146/The-Global-Economic-Cost-of-Visual-Im.... Accessed 2010 Jun 14.
    1. Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, et al. (2013) Seven new loci associated with age-related macular degeneration. Nat Genet 45: 433–439. - PMC (VSports最新版本) - PubMed
    1. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al. (2009) Finding the missing heritability of complex diseases. Nature 461: 747–753. - PMC - PubMed
    1. Sobrin L, Maller JB, Neale BM, Reynolds RC, Fagerness JA, et al. (2010) Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach. Eur J Hum Genet 18: 496–501. - PMC - PubMed

Publication types

"VSports注册入口" MeSH terms

VSports app下载 - Substances