A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration

Science

Volumn 314, Issue 5801, 2006, Pages 992-993

  Yang, Zhenglin ^a,b   Camp, Nicola J ^a   Sun, Hui ^c   Tong, Zongzhong ^a   Gibbs, Daniel ^a   Cameron, D Joshua ^a   Chen, Haoyu ^a   Zhao, Yu ^a   Pearson, Erik ^a   Li, Xi ^a   Chien, Jeremy ^d   DeWan, Andrew ^e   Harmon, Jennifer ^a   Bernstein, Paul S ^a   Shridhar, Viji ^d   Zabriskie, Norman A ^a   Hoh, Josephine ^e   Howes, Kimberly ^a   Zhang, Kang ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^c JULES STEIN EYE INSTITUTE   (United States)

^d Mayo Clinic   (United States)

^e YALE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODIES; CHROMOSOMES; IMMUNOLOGY; NUCLEIC ACIDS; RISK ASSESSMENT; VISION;

GENETIC PREDISPOSITION; LYMPHOCYTES; POLYMORPHISM; RETINAL PIGMENT EPITHELIUM;

GENETIC ENGINEERING;

MESSENGER RNA; PROTEIN HTRA1; SERINE PROTEINASE; UNCLASSIFIED DRUG;

AGE-RELATED DIFFERENCE; BLINDNESS; GENETIC VARIATION; GENOTYPE; PATHOGENICITY; POLYMORPHISM; RISK FACTOR; VISION;

ALLELE; ANTIBODY LABELING; ARTICLE; CAUCASIAN; CHROMOSOME 10Q; CONTROLLED STUDY; DRUSEN; GENE; GENE EXPRESSION; GENE LOCUS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HTRA1 GENE; HUMAN; LYMPHOCYTE; MAJOR CLINICAL STUDY; PATHOGENESIS; PIGMENT EPITHELIUM; POPULATION RISK; PRIORITY JOURNAL; PROMOTER REGION; RETINA MACULA AGE RELATED DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES; VISUAL IMPAIRMENT;

AGED; AGING; ALLELES; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 10; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HOMOZYGOTE; HUMANS; LYMPHOCYTES; MACULAR DEGENERATION; MALE; MIDDLE AGED; PIGMENT EPITHELIUM OF EYE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RETINAL DRUSEN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SERINE ENDOPEPTIDASES;

NORTH AMERICA; UNITED STATES; UTAH;

EID: 33751004690     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1133811     Document Type: Article

References (20)

1. National Advisory Eye Council, Report of the Retinal Diseases Panel: Vision Research: A National Plan, 1994-1998 (U.S. Department of Health and Human Services, Publication NIH 93-3186, Bethesda, MD, 1993).
2. K. Attebo, P. Mitchell, W. Smith, Ophthalmology 103, 357 (1996).
3. C. C. Klaver et al., Arch. Ophthalmol. 116, 1646 (1998).
4. J. M. Seddon, W. C. Willett, F. E. Speizer, S. E. Hankinson, JAMA 276, 1141 (1996).
5. R. J. Klein et al., Science 308, 385 (2005).
6. A. O. Edwards et al., Science 308, 421 (2005).
7. J. L. Haines et al., Science 308, 419 (2005).
8. G. S. Hageman et al., Proc. Natl. Acad. Sci. U.S.A. 102, 7227 (2005).
9. K. P. Magnusson et al., PLoS Med. 3, e5 (2006).
10. B. Gold et al., Nat. Genet. 38, 458 (2006).
11. M. Li et al., Nat. Genet. 38, 1049 (2006).
12. J. Maller et al., Nat. Genet. 38, 1055 (2006).
13. A. Rivera et al.. Hum. Mol. Genet. 14, 3227 (2005).
14. J. Jakobsdottir et al., Am. J. Hum. Genet. 77, 389 (2005).
15. S. A. Fisher et al., Hum. Mol. Genet. 14, 2257 (2005).
16. S. Schmidt et al., Am. J. Hum. Genet. 78, 852 (2006).
17. C. Oka et al., Development 131, 1041 (2004).
18. S. Grau et al., J. Biol. Chem. 281, 6124 (2006).
19. A. DeWan et al., Science 314, 989. Published online 19 October 2006. 10.1126/science.1133807 (2006).
20. We thank the participating AMD patients and their families. We thank G. Brinton, J. Carver, A. Crandall, M. Teske, A. Jorgensen, E. Brinton, and R. MacArthur for assistance in obtaining blood samples; W. Baehr, R. Marc, and N. Perrimon for critical reading of the manuscript; D. Lim and E. Smith for editorial assistance; and the Utah Lions Eye Bank and P. Bhosale for assistance in obtaining eye donor tissues. We acknowledge the following grant support to K.Z.: NIH (R01EY14428, R01EY14448, P30EY014800, and GCRC M01-RR00064), Foundation Fighting Blindness, Ruth and Milton Steinbach Fund, Ronald McDonald House Charities, Macular Vision Research Foundation, Research to Prevent Blindness, Val and Edith Green Foundation, and the Simmons Foundation; to H.S.: Ruth and Milton Steinbach Fund; to Z.Y.: Knights Templar Eye Research Foundation; to N.C.: K07 (NCI CA98364); to J.H.: NIH (R01EY15771), Ellison Medical Foundation, Macular Vision Research Foundation, an institutional award from Howard Hughes Medical Institute to Yale School of Medicine, and grants from the Claude D. Pepper Older Americans Independence Center at Yale University School of Medicine, and the Verto Institute; to V.S.: Mayo Clinic and Foundation.