title: Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation.
abstract: OBJECTIVE
  To evaluate the possible synergistic role of partial galactose metabolism defects, high lactase (LPH) genotype and lactose and galactose ingestion in presenile cataract formation.
  
  
  METHODS
  51 patients with idiopathic presenile cataracts and 172 healthy cataract-free subjects were genotyped to determine their galactose-1-phosphate uridyl transferase (GALT) and LPH status. Whole milk, skimmed milk and yoghurt consumption was recorded in 19 cataract patients and 172 controls by questionnaire.
  
  
  RESULTS
  GALT mutations and whole milk consumption increased the risk of cataract formation in high LPH genotype group, but not in lactose intolerant subjects. Logistic regression analysis showed the synergistic effect of GALT and LPH mutations on cataract formation.
  
  
  CONCLUSIONS
  High lactase activity genotypes and mutations in galactose-1-phosphate uridyl transferase have a synergistic effect on presenile cataract formation.
authors.affiliation: Faculty of Pharmacy, University of Ljubljana, Slovenia. natasa.karas@ffa.uni-lj.si
authors.forename: Natasa
authors.initials: N
authors.lastname: Karas-Kuzelicki
authors.forename: Vladimir
authors.initials: V
authors.lastname: Pfeifer
authors.forename: Jana
authors.initials: J
authors.lastname: Lukac-Bajalo
mesh_terms: D000328:Adult; D017668:Age of Onset; D001786:Blood Glucose / Q000378:metabolism; D002386:Cataract / Q000201:enzymology* / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D003920:Diabetes Mellitus / Q000097:blood / Q000201:enzymology; D005260:Female; D005838:Genotype; D006801:Humans; D043322:Lactase / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012016:Reference Values; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics* / Q000378:metabolism
chemical_list: D001786:Blood Glucose; D002784:Cholesterol; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D043322:Lactase