Methylenetetrahydrofolate reductase genetic polymorphisms in patients with cataract.

Zetterberg, Madeleine,1969Gothenburg University,Göteborgs universitet,Institutionen för anatomi och cellbiologi,Institutionen för klinisk neurovetenskap, Sektionen för oftalmologi,Institute of Anatomy and Cell Biology,Institute of Clinical Neurosciences, Section of Ophtalmology (author)

PURPOSE: Hyperhomocysteinemia is commonly associated with polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene. The level of homocysteine can be lowered by dietary intake of folate. A protective effect of folate supplementation has been reported against cataract. Here we investigate MTHFR polymorphisms in human cataract. DESIGN: Retrospective case-control association study. METHODS: Patients with nuclear (n = 77), cortical (n = 155), posterior subcapsular (n = 119), and mixed (n = 151) cataract, and 187 controls were analyzed for the MTHFR 677C-->T and 1298A-->C polymorphisms using minisequencing technique. RESULTS: The wild-type MTHFR 677CC/1298AA genotype was strongly overrepresented among cataract cases (P = .003). This effect was most pronounced in the mixed cataract group (P < .001). Hyperhomocysteinemia-associated genotypes had similar frequencies in cataract and control groups. CONCLUSIONS: The previously reported protective effect of folate against cataract is not due to overrepresentation of hyperhomocysteinemia-associated MTHFR genotypes. Instead, the strong predominance of wild-type MTHFR in cataract may suggest impaired DNA synthesis as a cataractogenic factor.

Tasa, Gunnar (author)
Prince, Jonathan A (author)
Palmér, Mona,2000Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin,Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine (author)
Juronen, Erkki (author)
Veromann, Siiri (author)
Teesalu, Pait (author)
Karlsson, Jan-Olof,1944Gothenburg University,Göteborgs universitet,Institutionen för anatomi och cellbiologi,Institute of Anatomy and Cell Biology(Swepub:gu)xkjanh (author)
Blennow, Kaj,1958Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin,Institutionen för klinisk neurovetenskap, Sektionen för laborativ neurovetenskap,Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine,Institute of Clinical Neurosciences, Section of Experimental Neuroscience(Swepub:gu)xbleka (author)
Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap, Sektionen för laborativ neurovetenskap,Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin,Institute of Clinical Neurosciences, Section of Experimental Neuroscience,Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine(Swepub:gu)xzethe (author)
Göteborgs universitetInstitutionen för anatomi och cellbiologi (creator_code:org_t)

By the author/editor: Zetterberg, Made ...; Tasa, Gunnar; Prince, Jonathan ...; Palmér, Mona, 20 ...; Juronen, Erkki; Veromann, Siiri; show more...; Teesalu, Pait; Karlsson, Jan-Ol ...; Blennow, Kaj, 19 ...; Zetterberg, Henr ...; show less...

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