Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration

American Journal of Human Genetics

Volumn 78, Issue 5, 2006, Pages 852-864

  Schmidt, Silke ^a   Hauser, Michael A ^a   Scott, William K ^a   Postel, Eric A ^a   Agarwal, Anita ^b   Gallins, Paul ^a   Wong, Frank ^a   Chen, Yu Sarah ^a   Spencer, Kylee ^c   Schnetz Boutaud, Nathalie ^c   Haines, Jonathan L ^c   Pericak Vance, Margaret A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^c VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; COMPLEMENT FACTOR H; SERINE;

AGED; ARTICLE; CASE CONTROL STUDY; CFH GENE; CHROMOSOME 10Q; CHROMOSOME MAP; CIGARETTE SMOKING; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE ENVIRONMENT INTERACTION; HAPLOTYPE; HUMAN; LIFESTYLE; LINKAGE ANALYSIS; LOC387715 GENE; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; POPULATION RISK; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RISK FACTOR;

EID: 33646070308     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/503822     Document Type: Article

References (44)

1. Klaver CCW, Assink JJM, van Leeuwen R, Wolfs RCW, Vingerling JR, Stijnen T, Hofman A, de Jong PTVM (2001) Incidence and progression rates of age-related maculopathy: the Rotterdam Study. Invest Ophthalmol Vis Sci 42:2237-2241
2. van Leeuwen R, Klaver CC, Vingerling JR, Hofman A, de Jong PT (2003) The risk and natural course of age-related maculopatliy: follow-up at 6 1/2 years in the Rotterdam Study. Arch Ophthalmol 121:519-526
3. Klein R, Klein BE, Tomany SC, Cruickshanks KJ (2003) The association of cardiovascular disease with the long-term incidence of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology 110:1273-1280
4. Klein R, Peto T, Bird A, Vannewkirk MR (2004) The epidemiology of age-related macular degeneration. Am J Ophthalmol 137:486-495
5. Smith W, Assink J, Klein R, Mitchell P, Klaver CC, Klein BE, Hofman A, Jensen S, Wang JJ, de Jong PT (2001) Risk factors for age-related macular degeneration: pooled findings from three continents. Ophthalmology 108:697-704
6. Khan JC, Thurlby DA, Shahid H, Clayton DG, Yates JR, Bradley M, Moore AT, Bird AC (2006) Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. Br J Ophthalmol 90:75-80
7. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419-421
8. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, 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 USA 102:7227-7232
9. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, Sangiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstahle C, Hoh J (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385-389
10. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421-424
11. Zareparsi S, Branham KE, Li M, Shah S, Klein RJ, Ott J, Hoh J, Abecasis GR, Swaroop A (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
12. Conley YP, Thalamuthu A, Jakobsdottir J, Weeks DE, Mah T, Ferrell RE, Gorin MB (2005) Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum Mol Genet 14:1991-2002
13. Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BE, Klein R, Lee KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt S, Haines JL, Pericak-Vance MA, Gorin MB, Schulz HL, Pardi F, Lewis CM, Weber BH (2005) Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14:2257-2264
14. Jakobsdottir J, Conley YP, Weeks DF, Mah TS, Ferrell RE, Gorin MB (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 77:389-407
15. Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH (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
16. Weeks DE, Conley YP, Tsai HJ, Mah TS, Schmidt S, Postel EA, Agarwal A, Haines JL, Pericak-Vance MA, Rosenfeld PJ, Paul TO, Eller AW, Morse LS, Dailey JP, Ferrell RE, Gorin MB (2004) Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 75:174-189
17. Schmidt S, Saunders AM, De La Paz MA, Postel EA, Heinis RM, Agarwal A, Scott WK, Gilbert JR, McDowell JG, Bazyk A, Gass JD, Haines JL, Pericak-Vance MA (2000) Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis 6:287-293
18. Seddon JM, Ajani UA, Mitchell BD (1997) Familial aggregation of age-related maculopathy. Am J Ophthalmol 123:199-206
19. Klein R, Davis MD, Magli YL, Segal P, Klein BE, Hubbard L (1991) The Wisconsin age-related maculopathy grading system. Ophthalmology 98:1128-1134
20. Bird AC, Bressler NM, Bressler SB, Chisholm IH, Coscas G, Davis MD, de Jong PT, Klaver CC, Klein BE, Klein R (1995) An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol 39:367-374
21. Kenealy SJ, Schmidt S, Agarwal A, Postel EA, De La Paz MA, Pericak-Vance MA, Haines JL (2004) Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. Mol Vis 10:57-61
22. Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC, Acott TS, Ott J, Klein ML (2003) Age-related macular degeneration-a genome scan in extended families. Am J Hum Genet 73:540-550
23. Seddon JM, Santangelo SL, Book K, Chong S, Cote J (2003) A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet 73:780-790
24. Iyengar SK, Song D, Klein BE, Klein R, Schick JH, Humphrey J, Millard C, Liptak R, Russo K, Jun G, Lee KE, Fijal B, Elston RC (2004) Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration. Am J Hum Genet 74:20-39
25. Xu H, Gregory SG, Hauser ER, Stenger JE, Pericak-Vance MA, Vance JM, Zuchner S, Hauser MA (2005) SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics 21:4181-4186
26. Oliveira SA, Li YJ, Noureddine MA, Zuchner S, Qin X, Pericak-Vance MA, Vance JM (2005) Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. Am J Hum Genet 77:252-264
27. Abecasis GR, Cherny SS, Cookson WO, Cardon LR (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101
28. Kong A, Cox NJ (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188
29. Boyles AL, Scott WK, Martin ER, Schmidt S, Li YJ, Ashley-Koch A, Bass MP, Schmidt M, Pericak-Vance MA, Speer MC, Hauser ER (2005) Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. Hum Hered 59:220-227
30. Abecasis GR, Wigginton JE (2005) Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet 77:754-767
31. Barrett JC, Fry B, Mailer J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265
32. Martin ER, Bass MP, Hauser ER, Kaplan NL (2003) Accounting for linkage in family-based tests of association with missing parental genotypes. Am J Hum Genet 73:1016-1026
33. Benjamini Y, Hochberg Y (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc 57:289-300
34. Li C, Scott LJ, Boehnke M (2004) Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST). Am J Hum Genet 74:418-431
35. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115-121
36. North BV, Curtis D, Sham PC (2005) Application of logistic regression to case-control association studies involving two causative loci. Hum Hered 59:79-87
37. Hauser ER, Watanabe RM, Duren WL, Bass MP, Langefeld CD, Boehnke M (2004) Ordered subset analysis in genetic linkage mapping of complex traits. Genet Epidemiol 27:53-63
38. Scott WK, Schmidt S, Hauser MA, Gallins P, Kwan S, Olson LM, Schnetz-Boutaud N, Spencer KL, Gilbert JR, Agarwal A, Postel EA, Haines JL, Pericak-Vance MA (2005) Interaction of CFH T1277C polymorphism and cigarette smoking in age-related macular degeneration. Paper presented at the American Society of Human Genetics 55th Annual Meeting, Salt Lake City, October 25-29
39. Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR (2006) Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci 47:536-540
40. Schmidt M, Hauser E, Martin E, Schmidt S (2005) Extension of the SIMLA package for generating pedigrees with complex inheritance patterns: environmental covariates, gene-gene and gene-environment interaction. Stat Appl Genet Mol Biol 4 (http:// www.bepress.com/sagmb/vol4/iss1/art15/) (electronically published June 6, 2005; accessed March 1, 2006)
41. Bruzzi P, Green SB, Byar DP, Brinton LA, Schairer C (1985) Estimating the population attributable risk for multiple risk factors using case-control data. Am J Epidemiol 122:904-914
42. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 33:177-182
43. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG (2001) Replication validity of genetic association studies. Nat Genet 29:306-309
44. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, Higgins J, DeFelice M, Lochner A, Faggart M, Liu-Cordero SN, Rotimi C, Adeyemo A, Cooper R, Ward R, Lander ES, Daly MJ, Altshuler D (2002) The structure of haplotype blocks in the human genome. Science 296:2225-2229