Coding and Noncoding Variants in the CFH Gene, Including rs1410996, Influence the Risk of AgeRelated Macular Degeneration in a Japanese Population in a Japanese population.

×
Rating : Rate It:
 
Embed :   
Post a comment
    Post Comment on Twitter
Comments:  



  Notes
 
 
Slide 1 : Coding and Noncoding Variants in the CFH Gene, Including rs1410996, Influence the Risk of Age-Related Macular Degeneration in a Japanese Population. K. Mori1, None; P.L. Gehlbach2, None; S. Kabasawa1, None; I. Kawasaki1, None; M. Oosaki3, None; H. Iizuka4, None; T. Awata3,4, None; S. Yoneya1 , None 1Department of Ophthalmology, 3Division of Endocrinology and Diabetes, Department of Medicine, 4Division of RI Laboratory, Biomedical Research Center, Saitama Medical University School of Medicine; 2Department of Ophthalmology, Johns Hopkins University School of Medicine Program Number: 2884 Disclosure Block:
Slide 2 : Genetic Risk Factors complement factor H (CFH) Y402H LOC387715/HtrA1 others (APOE, ABCA4, LRP6, VLDLR, etc) Environmental Risk Factors age, gender, smoking, hypertension, diet, light exposure, others Gene-environment Interaction* smoking vs LOC387715 Schmidt S, et al. Am J Hum Genet 2006. smoking vs CFH Y402H Despriet DD, et al. JAMA 2006. *Gene-environment interactions are still controversial. Genetic and Environmental Risk Factors of AMD
Slide 3 : The Ethnic Variance of CFH Y402H-Uncertainties in Asian Population- CFH Y402H variant strongly influences the risk of AMD. The association of the CFH Y402H variant with AMD has been replicated independently in diverse ethnic groups worldwide; such as in French, English, Italian, Finnish, and Indian population. Several Japanese and Hong Kong Chinese case-control studies have not achieved significance when examining for association between the Y402H variant and AMD. Klein RJ, et al. Science 2005; Haines JL, et al. Science 2005; Edwards AO, et al. Science 2005; Hageman GS, et al. PNAS 2005. Okamoto H, et al. Mol Vis 2006; Gotoh N, et al. Hum Genet 2006; Uka J, et al. Retina 2006; Fuse N, et al. Am J Ophthalmol 2006; Chen LJ, et al. Mol Vis 2006 Souied EH, et al. Mol Vis 2005; Sepp T, et al. IOVS 2005; Simonelli F, et al. IOVS 2006; Seisonen S, et al. Br J Ophthalmol 2006; Kaur I, et al. IOVS 2006.
Slide 4 : Male predominance Unilateral preservation A comparatively low incidence of dry AMD, including geographic atrophy A greater prevalence of wet AMD In the fellow eye of unilateral wet AMD, CNV developed in 58% from pigment epithelium detachment (PED), but only in 18% from drusen; PED is the higher risk indicator than drusen in Japanese. The phenotype of Asian AMD is different from that of Caucasian. Uyama M, et al. Arch Ophthalmol 1999; Uyama M, et al. Br J Ophthalmol 2000; Uyama M, et al. Am J Ophthalmol 2002; Sho K, et al. Arch Ophthalmol 2003; Bird AC. Eye 2003; Scholl HPN, et al. Mol Vis 2007. PED Drusen
Slide 5 : CFH variations other than Y402H CFH variations other than Y402H, such as rs1410996 and rs2274700, showed the strongest influences on the risk of AMD development. Composite likelihood analysis using a high-resolution LD map also indicated there is at least one and more likely several mutations other than Y402H, that determine the manifestation of disease of AMD. Li M, et al. Nat Genet 2006; 38: 1049-1054. Maller J, et al. Nat Genet 2006; 38: 1055-1059. Ennis S, et al. Br J Ophthalmol 2007. PURPOSE To investigate whether four coding and noncoding variants of the CFH gene, including rs1410996 and rs2274700, are associated with Japanese AMD. In addition, we examine environmental risk factors and describe possible gene-environment interactions.
Slide 6 : Control Case (AMD) total dry n 139 188 168 20 wet age 67?11 71?8 72?8 71?10 Design; Case-Control Study The study was approved by the Ethical Committee of Saitama Medical University and all procedures were conducted in accordance with the principle of the Declaration of Helsinki. All the patients were tested with full ophthalmic examination, including slitlamp biomicroscopy, fundusscopy, and contact lens biomicroscopic examination. All AMD patients had fluorescein and indocyanine green angiography. Patients were diagnosed and classified using the AREDS criteria.
Slide 7 : METHODS Genomic DNA was extracted from peripheral blood, and samples were genotyped using TaqMan assay. Tested SNPs and their designations were; rs800292 (Exon 2, I62V) rs1061170 (Exon 9, Y402H) rs1410996 (intron 14) rs2274700 (Exon 10, synonymous) Hardy-Weinberg equilibrium test, chi-square test, logistic regression analysis, and haplotype analysis were performed using commercially available softwares; SNPAlyze ver. 5.1 (Dynacom), SSRI ver.1.20 (SSRI).
Slide :
Slide :
Slide 10 : Haplotype Analysis *Chi-square test; †Corrected P value by permutation test (No. of iterations=106)
Slide :

 


Related 

 
Free Powerpoint Templates
Add as Friend flintoff     5 Years ago.
646 Views, 0 favourite
PowerPoint Presentation on Coding and Noncoding Variants in the CFH Gene, Including rs1410996, Infl    more
More By User

Flag as inappropriate





Browse | Powerpoint Templates | Tags | Contact | About Us | Privacy | FAQ | Blog

© Slideworld