Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation.
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.
Karas-Kuzelicki
Natasa
N
Faculty of Pharmacy, University of Ljubljana, Slovenia. natasa.karas@ffa.uni-lj.si
Pfeifer
Vladimir
V
Lukac-Bajalo
Jana
J
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
D001786:Blood Glucose; D002784:Cholesterol; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D043322:Lactase