Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration

PLoS Genetics

Volumn 6, Issue 2, 2010, Pages

  Yang, Zhenglin ^a,b,c   Tong, Zongzhong ^c   Chen, Yuhong ^b,c   Zeng, Jiexi ^b,c   Lu, Fang ^a   Sun, Xufang ^b,c   Zhao, Chao ^b,c   Wang, Kevin ^b   Davey, Lisa ^d   Chen, Haoyu ^c   London, Nyall ^c   Muramatsu, Daisuke ^e   Salasar, Francesca ^b   Carmona, Ruben ^b   Kasuga, Daniel ^b   Wang, Xiaolei ^b   Bedell, Matthew ^b   Dixie, Manjuxia ^c   Zhao, Peiquan ^f   Yang, Ruifu ^g   Gibbs, Daniel ^c   Liu, Xiaoqi ^a   Li, Yan ^a   Li, Cai ^a   Li, Yuanfeng ^a   Campochiaro, Betsy ^e   Constantine, Ryan ^c   Zack, Donald J ^e   Campochiaro, Peter ^e   Fu, Yinbin ^c   Li, Dean Y ^c   Katsanis, Nicholas ^d,e,h   Zhang, Kang ^b,c,i,j   more..

^a SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

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

^d JOHNS HOPKINS UNIVERSITY   (United States)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f SHANGHAI JIAO TONG UNIVERSITY   (China)

^g BEIJING INSTITUTE OF MICROBIOLOGY AND EPIDEMIOLOGY   (China)

^h JOHNS HOPKINS UNIVERSITY   (United States)

ⁱ Veteran's Administration San Diego Healthcare System   (United States)

^j SICHUAN UNIVERSITY   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 10Q; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE; GENE EXPRESSION; GENETIC VARIABILITY; HAPLOTYPE; HTRA1 GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; INDEL MUTATION; LOC387715 GENE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PIGMENT EPITHELIUM; PLACENTA; RETINA MACULA AGE RELATED DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION; AGED; CASE CONTROL STUDY; CHROMOSOME 10; COHORT ANALYSIS; ENZYME ASSAY; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; RETINA MACULA DEGENERATION; UNITED STATES;

ARMS2 PROTEIN, HUMAN; HTRA1 PROTEIN, HUMAN; LUCIFERASE; PROTEIN; SERINE PROTEINASE;

AGED; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 10; COHORT STUDIES; ENZYME ASSAYS; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LUCIFERASES; MACULAR DEGENERATION; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; SERINE ENDOPEPTIDASES; UTAH;

EID: 77649217229     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000836     Document Type: Article

References (32)

1. Manolio TA, Brooks LD, Collins FS (2008) A HapMap harvest of insights into the genetics of common disease. J Clin Invest 118: 1590-1605.
2. Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, et al. (2005) Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 77: 149-153.
3. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389.
4. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308: 419-421.
5. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A 102: 7227-7232.
6. Edwards AO, Ritter R, 3rd, Abel KJ, Manning A, Panhuysen C, et al. (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308: 421-424.
7. Li M, Atmaca-Sonmez P, Othman M, Branham KE, Khanna R, et al. (2006) CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 38: 1049-1054.
8. Maller J, George S, Purcell S, Fagerness J, Altshuler D, et al. (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet 38: 1055-1059.
9. Gold B, Merriam JE, Zernant J, Hancox LS, Taiber AJ, et al. (2006) Variation in factor B (BF) and complement component 2 (C2) genes is associated with agerelated macular degeneration. Nat Genet 38: 458-462.
10. Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, et al. (2007) Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 357: 553-561.
11. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, et al. (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet 39: 1200-1201.
12. Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, et al. (2005) Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14: 2257-2264.
13. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, et al. (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 77: 389-407.
14. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, et al. (2005) Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet 14: 3227-3236.
15. Schmidt S, Hauser MA, Scott WK, Postel EA, Agarwal A, et al. (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet 78: 852-864.
16. Kanda A, Chen W, Othman M, BranhamKE, Brooks M, et al. (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-relatedmacular degeneration. Proc Natl Acad Sci U S A 104: 16227-16232.
17. Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, et al. (2006) A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314: 992-993.
18. Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, et al. (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314: 989-992.
19. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, et al. (2008) Agerelated macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 40: 892-896.
20. Gibbs D, Yang Z, Constantine R, Ma X, Camp NJ, et al. (2008) Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration. Vision Res 48: 685-689.
21. Jakobsdottir J, Conley YP, Weeks DE, Ferrell RE, Gorin MB (2008) C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS ONE 3: e2199. doi:10.1371.journal.pone.0002199.
22. Deangelis MM, Ji F, Adams S, Morrison MA, Harring AJ, et al. (2008) Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology 115: 1209-1215 e1207.
23. Hughes AE, Orr N, Patterson C, Esfandiary H, Hogg R, et al. (2007) Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PLoS Med 4: e355. doi:10.1371/journal.pmed.0040355.
24. Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, et al. (2007) Association of CFH Y402H and LOC387715 A69S with progression of agerelated macular degeneration. JAMA 297: 1793-1800.
25. Chan CC, Shen D, Zhou M, Ross RJ, Ding X, et al. (2007) Human HtrA1 in the archived eyes with age-related macular degeneration. Trans Am Ophthalmol Soc 105: 92-97; discussion 97-98.
26. Francis PJ, Appukuttan B, Simmons E, Landauer N, Stoddard J, et al. (2008) Rhesus monkeys and humans share common susceptibility genes for age-related macular disease. Hum Mol Genet 17: 2673-2680.
27. Singh KK, Krawczak M, Dawson WW, Schmidtke J (2009) Association of HTRA1 and ARMS2 gene variation with drusen formation in rhesus macaques. Exp Eye Res 88: 479-482.
28. (1999) The Age-Related Eye Disease Study (AREDS): design implications. AREDS report no. 1. Control Clin Trials 20: 573-600.
29. Abramson JH, Gahlinger PM (2001) PEPI, ver. 4.0: Computer Programs for Epidemiologists. Salt Lake City: Sagebrush Press.
30. Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
31. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, et al. (2002) The structure of haplotype blocks in the human genome. Science 296: 2225-2229.
32. Kachi S, Oshima Y, Esumi N, Kachi M, Rogers B, et al. (2005) Nonviral ocular gene transfer. Gene Ther 12: 843-851.