A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration
University of Utah · Doheny Eye Institute · +2 more institutions
Abstract
Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the developed world and has a strong genetic predisposition. A locus at human chromosome 10q26 affects the risk of AMD, but the precise gene(s) have not been identified. We genotyped 581 AMD cases and 309 normal controls in a Caucasian cohort in Utah. We demonstrate that a single-nucleotide polymorphism, rs11200638, in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%. The HTRA1 gene encodes a secreted serine protease. Preliminary analysis of lymphocytes and retinal pigment epithelium from four AMD patients revealed that…
Citation impact
- FWCI
- 58.36
- Percentile
- 100%
- References
- 20
Authors
19- ZYZhenglin YangCorresponding
University of Utah, Doheny Eye Institute, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Institute of Human Genetics
- NJNicola J. CampCorresponding
University of Utah, Doheny Eye Institute, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Institute of Human Genetics
- HSHui Sun
University of Utah, Doheny Eye Institute, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Institute of Human Genetics
- ZTZongzhong Tong
University of Utah, Doheny Eye Institute, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Institute of Human Genetics
- DGDaniel Gibbs
University of Utah, Doheny Eye Institute, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Institute of Human Genetics
Topics & keywords
- Macular degeneration
- Drusen
- Locus (genetics)
- Genetics
- Biology
- Allele
- Retinal pigment epithelium
- Gene