PURPOSE: To ascertain and define the position of a potential disease susceptibility gene around D21S0083i prioritized during our previous whole genome case-control association analysis with 27,158 microsatellite markers, in Japanese high-myopia patients. METHODS: 520 high myopic patients and 520 healthy controls were genotyped using 39 SNPs distributed around D21S0083i on chromosome 21q22.3. RESULTS: Only 1 SNP (rs2839471) of 39 SNPs was significant after correction for multiple testing (allele T: P=0.00027, Pc=0.01, OR=1.684). The SNP (rs2839471) did not reside in haplotype blocks constructed by the pair-wise linkage disequilibrium between the SNPs. CONCLUSIONS: The SNP (rs2839471) is suggested to be located in the frequent recombinant region within UMODL1. Together this region might play a critical role for susceptibility to high myopia, and warrants further confirming studies and investigations as to the mechanisms by which UMODL1 may contribute to myopia.
PURPOSE: To ascertain and define the position of a potential disease susceptibility gene around D21S0083i prioritized during our previous whole genome case-control association analysis with 27,158 microsatellite markers, in Japanese high-myopiapatients. METHODS: 520 high myopic patients and 520 healthy controls were genotyped using 39 SNPs distributed around D21S0083i on chromosome 21q22.3. RESULTS: Only 1 SNP (rs2839471) of 39 SNPs was significant after correction for multiple testing (allele T: P=0.00027, Pc=0.01, OR=1.684). The SNP (rs2839471) did not reside in haplotype blocks constructed by the pair-wise linkage disequilibrium between the SNPs. CONCLUSIONS: The SNP (rs2839471) is suggested to be located in the frequent recombinant region within UMODL1. Together this region might play a critical role for susceptibility to high myopia, and warrants further confirming studies and investigations as to the mechanisms by which UMODL1 may contribute to myopia.
Authors: Nicolas Leveziel; Yi Yu; Robyn Reynolds; Albert Tai; Weihua Meng; Violaine Caillaux; Patrick Calvas; Bernard Rosner; François Malecaze; Eric H Souied; Johanna M Seddon Journal: Invest Ophthalmol Vis Sci Date: 2012-07-27 Impact factor: 4.799
Authors: S Veerappan; M Schäche; K K Pertile; F M A Islam; C Y Chen; P Mitchell; M Dirani; P N Baird Journal: Mol Vis Date: 2009-07-17 Impact factor: 2.367
Authors: Tsz Kin Ng; Ching Yan Lam; Dennis Shun Chiu Lam; Sylvia Wai Yee Chiang; Pancy Oi Sin Tam; Dan Yi Wang; Bao Jian Fan; Gary Hin-Fai Yam; Dorothy Shu Ping Fan; Chi Pui Pang Journal: Mol Vis Date: 2009-11-05 Impact factor: 2.367