Analysis of Hemicentin-1, hOgg1, and E-selectin single nucleotide polymorphisms in age-related macular degeneration.
OBJECTIVE
Age-related macular degeneration (AMD) is a common disease in which both environmental and genetic factors have been implicated. Various single nucleotide polymorphisms (SNPs) have been correlated, through candidate gene association studies, with age-related diseases, including AMD. Recently we identified an association between AMD and two SNPs in CX3CR1, which encodes a chemokine receptor. This study investigates the Hemicentin-1 (an extracellular matrix protein) Q5345R, hOgg1 (DNA repair gene) S326C, and E-selectin (an adhesion molecule) S149R SNPs in association with AMD.


METHODS
Genomic DNA was extracted from peripheral blood of 89 patients with advanced AMD, 97 age-matched controls without clinical AMD, and 170 random unscreened healthy volunteers. DNA was subjected to polymerase chain reaction amplification coupled with the restriction fragment length polymorphism assay.


RESULTS
The distribution of the Hemicentin-1 Q5345R, hOgg1 S326C, and E-selectin S149R SNPs did not differ significantly (all P values > .05) between the AMD patients and controls. Hemincentin-1 5345R was not found in any subject. hOgg1 326C allele frequency was 21.35% (38 of 178) in the AMD group compared with 19.12% (65 of 340) in the random controls and 19.59% (38 of 194) in the age-matched controls. E-selectin 149R allele frequencies were 8.99% (16 of 178) in AMD cases, 9.41% (32 of 340) in random controls, and 10.82% (21 of 194) in age-matched controls.


CONCLUSIONS
We were not able to demonstrate an association between the Hemicentin-1, hOgg1, and E-selectin SNPs and AMD development in the currently available cases and controls. Further candidate genes, particularly those involved in extracellular matrix, oxidative stress, and immune system functions, are currently being screened in our laboratory.
Bojanowski
Christine M
CM
National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Tuo
Jingsheng
J
Chew
Emily Y
EY
Csaky
Karl G
KG
Chan
Chi-Chao
CC
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D045647:DNA Glycosylases / Q000235:genetics*; D019040:E-Selectin / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007136:Immunoglobulins; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
D019040:E-Selectin; D016326:Extracellular Matrix Proteins; C488168:HMCN1 protein, human; D007136:Immunoglobulins; D045647:DNA Glycosylases; C479058:oxoguanine glycosylase 1, human