rs61755792
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy.
|
8747448 |
1995 |
rs1800553
|
|
|
0.060 |
GeneticVariation |
BEFREE |
G1961E has been associated previously, at a statistically significant level in the heterozygous state, with age-related macular degeneration (AMD).
|
9973280 |
1999 |
rs61755792
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One mutation in exon 1, R172W, has been described previously in other ethnic groups as causing a macular degeneration.
|
10193525 |
1998 |
rs1800549
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing of the PCR products revealed a heterozygous T1428M mutation which has been previously reported as one of the AMD associated mutations.
|
10216065 |
1999 |
rs61750120
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The hypothesis that the Arg212Cys and Arg1107Cys ABCR gene mutations could be susceptibility factors for age-related macular degeneration is discussed.
|
10458172 |
1999 |
rs61750200
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The hypothesis that the Arg212Cys and Arg1107Cys ABCR gene mutations could be susceptibility factors for age-related macular degeneration is discussed.
|
10458172 |
1999 |
rs1800553
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers.
|
10880298 |
2000 |
rs1800555
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The risk of AMD is elevated approximately threefold in D2177N carriers and approximately fivefold in G1961E carriers.
|
10880298 |
2000 |
rs1800553
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This study did not find any statistically significant evidence for involvement of the G1961</span>E or D2177N alleles of the ABCA4 gene in AMD.
|
11346402 |
2001 |
rs1800555
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This study did not find any statistically significant evidence for involvement of the G1961E or D2177N alleles of the ABCA4 gene in AMD.
|
11346402 |
2001 |
rs150633473
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Examination of the other AMD afflicted family members showed that the OPTC Arg229Cys variant did not segregate with the disorder within the family.
|
12019215 |
2002 |
rs121434491
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Analysis of the Arg345Trp disease-associated allele of the EFEMP1 gene in individuals with early onset drusen or familial age-related macular degeneration.
|
12427233 |
2002 |
rs121434382
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was not detected in 274 affected members in the restricted group with AMD, 346 additional patients with AMD, and 237 unaffected controls.
|
14968411 |
2004 |
rs3732378
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Furthermore, lower CX3CR1 protein expression was observed in the maculae of AMD eyes bearing T/M280 compared with the controls bearing T/T280.
|
15208270 |
2004 |
rs3732379
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Peripheral blood from 85 AMD patients and 105 subjects without AMD (controls), as well as ocular tissue from 40 pathological sections with AMD and two normal eye sections, were screened for V249I and T280M, two single nucleotide polymorphisms (SNPs) in CX3CR1.
|
15208270 |
2004 |
rs767830104
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Peripheral blood from 85 AMD patients and 105 subjects without AMD (controls), as well as ocular tissue from 40 pathological sections with AMD and two normal eye sections, were screened for V249I and T280M, two single nucleotide polymorphisms (SNPs) in CX3CR1.
|
15208270 |
2004 |
rs121434491
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD.
|
15218514 |
2005 |
rs121434382
|
|
|
0.050 |
GeneticVariation |
BEFREE |
A rapid diagnostic assay will facilitate a reliable and convenient evaluation of the frequency of the Gln5345Arg mutation and its association with AMD within other populations.
|
15467524 |
2004 |
rs662
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent.
|
15488805 |
2004 |
rs854560
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The M55L and Q192R SNPs of the PON1 gene do not appear to be associated with late AMD in individuals of Anglo-Celtic descent.
|
15488805 |
2004 |
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
DNA resequencing of the complement factor H gene within this haplotype revealed a common coding variant, Y402H, that significantly increases the risk for AMD with odds ratios between 2.45 and 5.57.
|
15761120 |
2005 |
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Significant association (P = 4.95 x 10(-10)) was identified within the regulation of complement activation locus and was centered over a tyrosine-402 --> histidine-402 protein polymorphism in the gene encoding complement factor H. Possession of at least one histidine at amino acid position 402 increased the risk of AMD 2.7-fold and may account for 50% of the attributable risk of AMD.
|
15761121 |
2005 |
rs380390
|
|
C |
0.810 |
GeneticVariation |
GWASDB |
Complement factor H polymorphism in age-related macular degeneration.
|
15761122 |
2005 |
rs380390
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Complement factor H polymorphism in age-related macular degeneration.
|
15761122 |
2005 |
rs1051740
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study suggests that a coding SNP in EPHX1 (Y113H) may be important in AMD and supports a previous observation of an association with exudative AMD.
|
15774926 |
2005 |