RGD Reference Report - Association of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients. - Rat Genome Database

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Association of Single Nucleotide Polymorphisms in CFH, ARMS2 and HTRA1 Genes with Risk of Age-related Macular Degeneration in Egyptian Patients.

Authors: Abbas, RO  Azzazy, HM 
Citation: Abbas RO and Azzazy HM, Ophthalmic Genet. 2013 Jan 30.
RGD ID: 7365022
Pubmed: PMID:23362846   (View Abstract at PubMed)
DOI: DOI:10.3109/13816810.2012.762934   (Journal Full-text)

ABSTRACT Background: Age-related macular degeneration (AMD) is one of the leading causes of blindness in the elderly worldwide. Several single nucleotide polymorphisms (SNPs) have been linked to the risk of developing AMD. We aimed to examine the association between AMD and SNPs on CFH, ARMS2 and HTRA1 in Egyptians, a previously unstudied population. Materials and methods: Genomic DNA was extracted from 26 AMD patients and 20 controls. Genotyping was performed using PCR followed by allele-specific restriction digestion and direct sequencing. Results: CFH rs1061170 was significantly associated with AMD with the frequency of the risk C allele being 0.53 in patients and 0.17 in controls (p < 0.017). The odds ratio (OR) for the TC genotype was 5.5 (95% CI: 1.1-26.4) and for combined TC + CC genotypes was 8 (95% CI: 1.7-37.1). ARMS2 rs10490924 was also significantly associated with the risk allele T found at a frequency of 0.5 in AMD and 0.15 in controls (p < 0.017, chi(2) test). The OR for the TG genotype was 4.667 (95% CI: 1.2-18.4) and for combined TG + TT genotypes was 7 (95% CI: 1.8-26.5). HTRA1 rs11200638 also was significantly associated, with the risk allele A found at a frequency of 0.44 in patients and 0.17 in controls (p < 0.017, chi(2) test). OR for GA genotype was 5 (95% CI: 1.2-20.9) and for the combined GA + AA genotypes was 6 (95% CI: 1.4-24.7). Conclusions: Our data demonstrates significant association between AMD and rs1061170 on CFH, rs10490924 on ARMS2 and rs11200638 on HTRA1 in Egyptian patients. These findings are in agreement with previous findings in Caucasians.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
macular degeneration susceptibilityIAGP 7365022DNA:SNP: :rs1061170(human)RGD 
macular degeneration susceptibilityISOCFH (Homo sapiens)7365022; 7365022DNA:SNP: :rs1061170(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cfh  (complement factor H)

Genes (Mus musculus)
Cfh  (complement component factor h)

Genes (Homo sapiens)
CFH  (complement factor H)


Additional Information