PURPOSE: To investigate possible associations between sequence changes in the galactokinase gene (GALK1) and age-related cataract in a European population. METHODS: Persons without lens opacities and persons with clinically significant age-related cataract were selected from those participating in the Collaborative Italian-American Clinical Trial of Nutritional Supplements and Age-Related Cataract or from those attending the Section of Ophthalmology of the University of Parma for cataract surgery. Type and severity of the opacities were assessed by slit-lamp and retro-illumination lens photographs. Mutations in GALK1 were identified by PCR amplification of individual exons and flanking sequences and sequencing using fluorescent terminator technology in an ABI 377 Prism or 3100 automated DNA sequencer. RESULTS: DNA samples were obtained from 115 individuals with clear lenses and from 185 individuals with cataract (106 with any nuclear, 88 with any cortical, and 25 with any posterior sub capsular cataract). 157 of the 185 patients with cataract (85%) were age-matched with a control within an age range of plus or minus 1 year. SNPs causing amino acid changes in the galactokinase protein were identified in exon 4; I184M, 1/115 control versus 0/185 cataractous individuals, p=0.38, exon 6; G274D, 0/115 control versus 1/185 cataractous individuals, p>0.99, and exon 7; V338A, 0/115 control versus 1/185 cataractous individuals, p>0.99. Thus, there were no significant differences in the distribution of sequence alterations resulting in amino acid changes between control and cataractous individuals. Eighty samples showed a C to T transition 43 bases into intron 7 (46 cataracts and 34 controls). Testing the distribution of the intron 7 findings showed Hardy-Weinberg equilibrium for both cases (p=0.73) and controls (p=0.51). There was no difference in C/T distribution between cases and controls (p=0.27). CONCLUSIONS: In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. Since this is due to a lack of sequence changes in both affected and control individuals, this study cannot rule out the possibility of an association in other populations.
PURPOSE: To investigate possible associations between sequence changes in the galactokinase gene (GALK1) and age-related cataract in a European population. METHODS:Persons without lens opacities and persons with clinically significant age-related cataract were selected from those participating in the Collaborative Italian-American Clinical Trial of Nutritional Supplements and Age-Related Cataract or from those attending the Section of Ophthalmology of the University of Parma for cataract surgery. Type and severity of the opacities were assessed by slit-lamp and retro-illumination lens photographs. Mutations in GALK1 were identified by PCR amplification of individual exons and flanking sequences and sequencing using fluorescent terminator technology in an ABI 377 Prism or 3100 automated DNA sequencer. RESULTS: DNA samples were obtained from 115 individuals with clear lenses and from 185 individuals with cataract (106 with any nuclear, 88 with any cortical, and 25 with any posterior sub capsular cataract). 157 of the 185 patients with cataract (85%) were age-matched with a control within an age range of plus or minus 1 year. SNPs causing amino acid changes in the galactokinase protein were identified in exon 4; I184M, 1/115 control versus 0/185 cataractous individuals, p=0.38, exon 6; G274D, 0/115 control versus 1/185 cataractous individuals, p>0.99, and exon 7; V338A, 0/115 control versus 1/185 cataractous individuals, p>0.99. Thus, there were no significant differences in the distribution of sequence alterations resulting in amino acid changes between control and cataractous individuals. Eighty samples showed a C to T transition 43 bases into intron 7 (46 cataracts and 34 controls). Testing the distribution of the intron 7 findings showed Hardy-Weinberg equilibrium for both cases (p=0.73) and controls (p=0.51). There was no difference in C/T distribution between cases and controls (p=0.27). CONCLUSIONS: In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. Since this is due to a lack of sequence changes in both affected and control individuals, this study cannot rule out the possibility of an association in other populations.
Authors: Jurian Zuercher; John Neidhardt; Istvan Magyar; Stephan Labs; Anthony T Moore; Felix C Tanner; Naushin Waseem; Daniel F Schorderet; Francis L Munier; Shomi Bhattacharya; Wolfgang Berger; Barbara Kloeckener-Gruissem Journal: Invest Ophthalmol Vis Sci Date: 2010-02-24 Impact factor: 4.799
Authors: Thiago Gonçalves Dos Santos Martins; Ana Luiza Fontes de Azevedo Costa; Maria Kiyoko Oyamada; Paulo Schor; Aytan Miranda Sipahi Journal: Int J Ophthalmol Date: 2016-01-18 Impact factor: 1.779
Authors: Marylyn D Ritchie; Shefali S Verma; Molly A Hall; Robert J Goodloe; Richard L Berg; Dave S Carrell; Christopher S Carlson; Lin Chen; David R Crosslin; Joshua C Denny; Gail Jarvik; Rongling Li; James G Linneman; Jyoti Pathak; Peggy Peissig; Luke V Rasmussen; Andrea H Ramirez; Xiaoming Wang; Russell A Wilke; Wendy A Wolf; Eric S Torstenson; Stephen D Turner; Catherine A McCarty Journal: Mol Vis Date: 2014-09-19 Impact factor: 2.367
Authors: Thomas M Bennett; Giovanni Maraini; Chongfei Jin; Wenmin Sun; J Fielding Hejtmancik; Alan Shiels Journal: Mol Vis Date: 2013-04-11 Impact factor: 2.367
Authors: Alan Shiels; Thomas M Bennett; Harry L S Knopf; Giovanni Maraini; Anren Li; Xiaodong Jiao; J Fielding Hejtmancik Journal: Mol Vis Date: 2008-11-12 Impact factor: 2.367