RGD Reference Report - Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration. - Rat Genome Database

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Association of the M55L and Q192R paraoxonase gene polymorphisms with age-related macular degeneration.

Authors: Baird, PN  Chu, D  Guida, E  Vu, HT  Guymer, R 
Citation: Baird PN, etal., Am J Ophthalmol. 2004 Oct;138(4):665-6.
RGD ID: 8547582
Pubmed: PMID:15488805   (View Abstract at PubMed)
DOI: DOI:10.1016/j.ajo.2004.04.053   (Journal Full-text)

PURPOSE: To investigate the reported association of the two single-nucleotide polymorphisms (SNPs) of the paraoxonase gene (PON1), Met-Leu 55 (M55L) and Gln-Arg 192 (Q192R), in individuals of Anglo-Celtic descent who have age-related macular degeneration (AMD). DESIGN: Case-control association study. METHODS: Sixty-two individuals with late (end-stage) AMD and 115 control subjects (without AMD) were included in this study. The M55L and Q192R SNPs were amplified by polymerase chain reaction and genotyped, and statistical analysis was undertaken. RESULTS: No association of either SNP was detected in persons of Anglo-Celtic descent who had AMD, although there was a significant difference in SNP allele frequency between Anglo-Celtic and Japanese individuals. CONCLUSION: The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
macular degeneration no_associationIAGP 8547582DNA:missense mutations:cds:p.L55M and p.Q192R (human)RGD 
macular degeneration no_associationISOPON1 (Homo sapiens)8547582; 8547582DNA:missense mutations:cds:p.L55M and p.Q192R (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal posterior segment imaging no_associationIAGP 8547582DNA:missense mutations:cds:p.L55M and p.Q192R RGD 
Drusen no_associationIAGP 8547582DNA:missense mutations:cds:p.L55M and p.Q192R RGD 
Objects Annotated

Genes (Rattus norvegicus)
Pon1  (paraoxonase 1)

Genes (Mus musculus)
Pon1  (paraoxonase 1)

Genes (Homo sapiens)
PON1  (paraoxonase 1)


Additional Information