A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population

Molecular Vision

Volumn 17, Issue , 2011, Pages 810-821

  Yip, Shea Ping ^a   Leung, Kim Hung ^a   Fung, Wai Yan ^a   Ng, Po Wah ^a   Sham, Pak Chung ^b   Yap, Maurice K H ^a  

^a HONG KONG POLYTECHNIC UNIVERSITY   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 11; COLLAGEN TYPE 11 ALPHA 1; FIBRILLIN 1; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE CONTROL STUDY; CHINESE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOPIA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79955618723     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Gilmartin B. Myopia: precedents for research in the twenty-first century. Clin Experiment Ophthalmol 2004; 32:305-324. [PMID: 15180846]
2. Saw SM, Gazzard G, Shih-Yen EC, Chua WH. Myopia and associated pathological complications. Ophthalmic Physiol Opt 2005; 25:381-391. [PMID: 16101943]
3. Saw SM, Chua WH, Wu HM, Yap E, Chia KS, Stone RA. Myopia: gene-environment interaction. Ann Acad Med Singapore 2000; 29:290-297. [PMID: 10976381]
4. Tang WC, Yap MK, Yip SP. A review of current approaches to identifying human genes involved in myopia. Clin Exp Optom 2008; 91:4-22. [PMID: 18045248]
5. Young TL, Metlapally R, Shay AE. Complex trait genetics of refractive error. Arch Ophthalmol 2007; 125:38-48. [PMID: 17210850]
6. Hattersley AT, McCarthy MI. What makes a good genetic association study? Lancet 2005; 366:1315-1323. [PMID:16214603]
7. Snead MP, Yates JR. Clinical and Molecular genetics of Stickler syndrome. J Med Genet 1999; 36:353-359. [PMID:10353778]
8. Edwards AO. Clinical features of the congenital vitreoretinopathies. Eye 2008; 22:1233-1242. [PMID:18309337]
9. Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, Sertié AL, Errera FI, Bagatini K, Kok F, Leite KR. Mutations in collagen 18A1 and their relevance to the human phenotype. An Acad Bras Cienc 2006; 78:123-131. [PMID: 16532212]
10. Suzuki O, Kague E, Bagatini K, Tu H, Heljasvaara R, Carvalhaes L, Gava E, de Oliveira G, Godoi P, Oliva G, Kitten G, Pihlajaniemi T, Passos-Bueno MR. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. Mol Vis 2009; 15:801-809. [PMID: 19390655]
11. Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol 2008; 22:165-189. [PMID: 18328988]
12. Nahum Y, Spierer A. Ocular features of Marfan syndrome: diagnosis and management. Isr Med Assoc J 2008; 10:179-181. [PMID: 18494227]
13. Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. In, Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews. Seattle (WA): University of Washington, Seattle; 1993-2000.
14. Mutti DO, Cooper ME, O'Brien S, Jones LA, Marazita ML, Murray JC, Zadnik K. Candidate gene and locus analysis of myopia. Mol Vis 2007; 13:1012-1019. [PMID: 17653045]
15. Metlapally R, Li YJ, Tran-Viet KN, Abbott D, Czaja GR, Malecaze F, Calvas P, Mackey D, Rosenberg T, Paget S, Zayats T, Owen MJ, Guggenheim JA, Young TL. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci 2009; 50:4080-4086. [PMID:19387081]
16. Sham P, Bader JS, Craig I, O'Donovan M, Owen M. DNA Pooling: a tool for large-scale association studies. Nat Rev Genet 2002; 3:862-871. [PMID: 12415316]
17. Hoogendoorn B, Norton N, Kirov G, Williams N, Hamshere ML, Spurlock G, Austin J, Stephens MK, Buckland PR, Owen MJ, O'Donovan MC. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Hum Genet 2000; 107:488-493. [PMID: 11140947]
18. Zar JH. Biostatistical Analysis, 5th ed. New Jersey: Prentice Hall/Pearson; 2010. p. 307-27.
19. Zha Y, Leung KH, Lo KK, Fung WY, Ng PW, Shi MG, Yap MK, Yip SP. TGFB1 as a susceptibility gene for high myopia: a replication study with new findings. Arch Ophthalmol 2009; 127:541-548. [PMID: 19365037]
20. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. Efficiency and power in genetic association studies. Nat Genet 2005; 37:1217-1223. [PMID: 16244653]
21. Han W, Yip SP, Wang J, Yap MK. Using denaturing HPLC for SNP discovery and genotyping, and establishing the linkage disequilibrium pattern for the all-trans-retinol dehydrogenase (RDH8) gene. J Hum Genet 2004; 49:16-23. [PMID:14661078]
22. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81:559-575. [PMID: 17701901]
23. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265. [PMID: 15297300]
24. Moore JH, Gilbert JC, Tsai CT, Chiang FT, Holden T, Barney N, White BC. A flexible computational framework for detecting, characterizing, and interpreting statistical patterns of epistasis in genetic studies of human disease susceptibility. J Theor Biol 2006; 241:252-261. [PMID: 16457852]
25. Nielsen DM, Ehm MG, Weir BS. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 1998; 63:1531-1540. [PMID:9867708]
26. Edwards MH, Lam CS. The epidemiology of myopia in Hong Kong. Ann Acad Med Singapore 2004; 33:34-38. [PMID:15008559]
27. Hedrick PW. Genetics of Populations, 4th ed. Sudbury: Jones and Barlett; 2011.
28. Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, Bansal A, Riley J, Purvis I, Xu CF. Detection of genotyping errors by Hardy-Weinberg equilibrium testing. Eur J Hum Genet 2004; 12:395-399. [PMID: 14872201]
29. Bansal A, van den Boom D, Kammerer S, Honisch C, Adam G, Cantor CR, Kleyn P, Braun A. Association testing by DNA pooling: an effective initial screen. Proc Natl Acad Sci USA 2002; 99:16871-16874. [PMID: 12475937]
30. Barratt BJ, Payne F, Rance HE, Nutland S, Todd JA, Clayton DG. Identification of the sources of error in allele frequency estimations from pooled DNA indicates an optimal experimental design. Ann Hum Genet 2002; 66:393-405. [PMID: 12485472]
31. Macgregor S, Zhao ZZ, Henders A, Nicholas MG, Montgomery GW, Visscher PM. Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays. Nucleic Acids Res 2008; 36:e35. [PMID: 18276640]
32. Price AL, Kryukov GV, de Bakker PI, Purcell SM, Staples J, Wei LJ, Sunyaev SR. Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet 2010; 86:832-838. [PMID: 20471002]
33. Wang T, Lin CY, Rohan TE, Ye K. Resequencing of pooled DNA for detecting disease associations with rare variants. Genet Epidemiol 2010; 34:492-501. [PMID: 20578089]
34. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 2008; 40:695-701. [PMID: 18509313]
35. Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF. Mutations in NYX of individuals with high myopia, but without night blindness. Mol Vis 2007; 13:330-336. [PMID: 17392683]
36. Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol 1986; 104:1013-1020. [PMID: 3488053]