RGD Reference Report - Association of genetic polymorphisms and age-related macular degeneration in Chinese population. - Rat Genome Database

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Association of genetic polymorphisms and age-related macular degeneration in Chinese population.

Authors: Tian, J  Yu, W  Qin, X  Fang, K  Chen, Q  Hou, J  Li, J  Chen, D  Hu, Y  Li, X 
Citation: Tian J, etal., Invest Ophthalmol Vis Sci. 2012 Jun 28;53(7):4262-9. doi: 10.1167/iovs.11-8542.
RGD ID: 7394695
Pubmed: PMID:22618592   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.11-8542   (Journal Full-text)

PURPOSE: We explored associations between age-related macular degeneration (AMD) and genetic variants of 10 genes in a nationwide Chinese population. METHODS: In this multicenter case-control study, 535 AMD patients and 469 controls were recruited from 16 centers that spread from the north to the south of China. All participants underwent comprehensive eye examinations, and 40 single nucleotide polymorphisms (SNPs) of 10 genes were selected. DNA samples were genotyped with the MassArray system. The effect of the genotypes and haplotypes on AMD was assessed with logistic regression analysis, adjusted for age, sex, long-term residence, and family origin. RESULTS: In our study, 11 SNPs in complement H (CFH), 2 in age-related maculopathy susceptibility 2 (ARMS2), and 2 in high-temperature requirement factor A1 (HTRA1) were associated significantly with AMD. They were rs551397, rs800292, rs1329424, rs1061170, rs10801555, rs12124794, rs10733086, rs10737680, rs2274700, rs1410996, and rs380390 in CFH; rs10490924 and rs2736912 in ARMS2; and rs11200638 and rs3793917 in HTRA1. Three haplotypes in CFH, predisposed the patients significantly to AMD (P<0.001, P=0.001, and P<0.001, respectively). With the sample size of our study, no relationship was found for AMD and the SNPs tested in complement 3 (C3); serpin peptidase inhibitor, clade G, member 1 (SERPING1); vascular endothelial growth factor (VEGF); cholesterol ester transfer protein (CETP); lipoprotein lipase (LPL); hepatic lipase (LIPC); and metallopeptidase inhibitor 3 (TIMP3) genes. CONCLUSIONS: Gene variants in CFH, ARMS2, and HTRA1 contribute to AMD in the Chinese population.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HTRA1Humanage related macular degeneration susceptibilityIAGP DNA:snp:promoter:g.-1894G>A (rs3793917) (human)RGD 
Htra1Mouseage related macular degeneration susceptibilityISOHTRA1 (Homo sapiens)DNA:snp:promoter:g.-1894G>A (rs3793917) (human)RGD 
Htra1Ratmacular degeneration susceptibilityISOHTRA1 (Homo sapiens)DNA:snp:promoter:g.-1894G>A (rs3793917) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HTRA1HumanAbnormal posterior segment imaging susceptibilityIAGP DNA:snp:promoter:g.-1894G>A (rs3793917)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Htra1  (HtrA serine peptidase 1)

Genes (Mus musculus)
Htra1  (HtrA serine peptidase 1)

Genes (Homo sapiens)
HTRA1  (HtrA serine peptidase 1)


Additional Information