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Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
Mol Vis. 2003 Aug 26; 9:397-400.MV

Abstract

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+Show Affiliations

Ophthalmology, University of Parma, Parma, Italy. maraini@unipr.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

12942049

Citation

Maraini, Giovanni, et al. "Galactokinase Gene Mutations and Age-related Cataract. Lack of Association in an Italian Population." Molecular Vision, vol. 9, 2003, pp. 397-400.
Maraini G, Hejtmancik JF, Shiels A, et al. Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Mol Vis. 2003;9:397-400.
Maraini, G., Hejtmancik, J. F., Shiels, A., Mackay, D. S., Aldigeri, R., Jiao, X. D., Williams, S. L., Sperduto, R. D., & Reed, G. (2003). Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. Molecular Vision, 9, 397-400.
Maraini G, et al. Galactokinase Gene Mutations and Age-related Cataract. Lack of Association in an Italian Population. Mol Vis. 2003 Aug 26;9:397-400. PubMed PMID: 12942049.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population. AU - Maraini,Giovanni, AU - Hejtmancik,J Fielding, AU - Shiels,Alan, AU - Mackay,Donna S, AU - Aldigeri,Raffaella, AU - Jiao,Xiao D, AU - Williams,Sally L, AU - Sperduto,Robert D, AU - Reed,George, Y1 - 2003/08/26/ PY - 2003/8/28/pubmed PY - 2003/10/30/medline PY - 2003/8/28/entrez SP - 397 EP - 400 JF - Molecular vision JO - Mol. Vis. VL - 9 N2 - 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. SN - 1090-0535 UR - https://www.unboundmedicine.com/medline/citation/12942049/Galactokinase_gene_mutations_and_age_related_cataract__Lack_of_association_in_an_Italian_population_ L2 - http://www.molvis.org/molvis/v9/a51/ DB - PRIME DP - Unbound Medicine ER -