|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014), while all other polymorphisms were associated with an increased AMD risk (CX3CR1 839C/T, additive model: aOR=2.682, 95% CI=1.119-5.709, P=0.022, recessive model: aOR=2.729, 95% CI=1.141-6.048, P=0.010; CX3CR1 745G/A, additive model: aOR=2.614, 95% CI=1.231-6.012, P=0.020, recessive model: aOR=2.340, 95% CI=1.227-5.993, P=0.011; VEGFA +674C/T, additive model: aOR=1.601, 95% CI=1.253-2.179, P<0.001, dominant model: aOR=1.287, 95% CI=1.058-1.570, P<0.001, allele model: OR=1.220, 95% CI=1.118-1.427, P<0.001; VEGFA +936C/T, additive model: aOR=1.509, 95% CI=1.105-2.311, P<0.001, recessive model: aOR=1.432, 95% CI=1.027-2.192, P=0.009, dominant model: aOR=1.207, 95% CI=1.031-1.514, P0.001, allele model: aOR=1.216, 95% CI=1.062-1.408, P<0.001).
|
29565837 |
2018 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Using a panel of 8854 SNPs associated with AAMD at p-values ≤5.0E-7 from a cohort of >30,000 elderly people, we identified SNPs in miRNA target-encoding constituents of: (1) regulator of complement activation (RCA) genes (rs390679, CFHR1, p≤2.14E-214 ; rs12140421, CFHR3, p≤4.63E-29); (2) genes of major histocompatibility complex (MHC) loci (rs4151672, CFB, p≤8.91E-41 ; rs115404146, HLA-C, p≤6.32E-12 ; rs1055821, HLA-B, p≤1.93E-9 ; rs1063355, HLA-DQB1, p≤6.82E-14); and (3) genes of the 10q26 AAMD locus (rs1045216, PLEKHA1, p≤4.17E-142 ; rs2672603, ARMS2, p≤7.14E-46).
|
28343170 |
2017 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
At least three genes are located within the bounds of the locus: pleckstrin homology domain containing family A member 1 (PLEKHA1), age-related maculopathy susceptibility 2 (ARMS2) and high-temperature requirement A serine peptidase 1 (HTRA1), all of which are associated with AMD.
|
24291204 |
2014 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD.
|
25050486 |
2014 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
|
23577725 |
2013 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We performed an extensive literature search for studies on the association between AMD and the less studied genetic variants in PLEKHA1/ARMS2/HTRA1.
|
24013816 |
2013 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
|
23326517 |
2013 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
There continues to be evidence that the 10q26 (age-related maculopathy susceptibility 2 gene [ARMS2]) locus spanning PLEKHA1-LOC387715-HTRA1 and the C3 gene may contain multiple independent genetic risks contributing to AMD.
|
21197116 |
2010 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Other than variants on 1q32-q22, only two SNPs, rs9288410 (MAP2) on 2q34-q35 and rs2014307 (PLEKHA1/HTRA1) on 10q26 were significantly associated with AMD status (P = .03 and P < 10-6 respectively).
|
18541031 |
2008 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In particular, variants in the gene for the complement factor H (CFH) and the genes PLEKHA1/LOC387715/HTRA1, Factor B (BF) and complement component 2 (C2) have been implicated as major risk or protective factors for the development of AMD.
|
18097986 |
2008 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
PLEKHA1 polymorphism was associated with AMD.
|
18079691 |
2007 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate, by evaluating 45 tag SNPs spanning HTRA1, PLEKHA1, and predicted gene LOC387715/ARMS2, that rs10490924 SNP alone, or a variant in strong linkage disequilibrium, can explain the bulk of association between the 10q26 chromosomal region and AMD.
|
17884985 |
2007 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PLEKHA1 polymorphism was associated with AMD.
|
18079691 |
2007 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Association studies have identified a major risk variant within the complement factor H gene (CFH), and recent reports suggest that PLEKHA1/LOC387715 and the BF/C2 regions may be major risk loci for AMD as well.
|
16818082 |
2006 |
|
Age related macular degeneration
|
0.200 |
Biomarker
|
disease |
BEFREE |
PLEKHA1, which is closely linked to LOC387715, was significantly associated with ARM status in the AREDS cohort, but not the CHS cohort and ELOVL4 was not significantly associated with ARM in either cohort.
|
17000705 |
2006 |
|
Age related macular degeneration
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The association of either a single or a double copy of the high-risk allele within the PLEKHA1/LOC387715 locus accounts for an odds ratio of 5.0 (95% confidence interval 3.2-7.9) for ARM and a population attributable risk as high as 57%.
|
16080115 |
2005 |