|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
BEFREE |
Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018.
|
30179527 |
2018 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
BEFREE |
The risk allele frequency for rs9332739 in C2 (AMD, 0.65%, control, 2.03%) and rs4151667 in CFB (AMD, 0.65%, control, 1.78%) was very low.
|
22273503 |
2012 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
GWASDB |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
GWASDB |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
GWASCAT |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
BEFREE |
Although the E318D and L9H variants have shown association with AMD in previous studies, the findings were not in agreement.
|
18806293 |
2009 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
BEFREE |
We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L region in a Japanese population, genotyping 13 single nucleotide polymorphisms (SNPs) spanning this region, including rs9332739 (E318D), rs547154, rs4151667 (L9H), and rs641153 (R32Q) that are known to be associated with age-related macular degeneration (AMD).
|
19556007 |
2009 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
BEFREE |
Three SNPs in CC2 and CFB were strongly associated with decreased risk of AMD in the case-control data set (CC2 E318D: P = 0.02; CC2 rs547154: P = 9 x 10(-6); and CFB R32Q P = 2 x 10(-5)).
|
17576744 |
2007 |
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation
|
BEFREE |
The L9H variant of BF and the E318D variant of C2 (H10), as well as a variant in intron 10 of C2 and the R32Q variant of BF (H7), confer a significantly reduced risk of AMD (odds ratio = 0.45 and 0.36, respectively).
|
16518403 |
2006 |
|
Geographic Atrophy
|
|
0.710 |
GeneticVariation
|
BEFREE |
CNV-GA patients had no protective alleles at SNP rs9332739 (C2), compared with GA (27%) and CNV only (10%).
|
22699975 |
2012 |
|
Geographic Atrophy
|
|
0.710 |
GeneticVariation
|
GWASCAT |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
|
Myeloperoxidase Measurement
|
|
0.700 |
GeneticVariation
|
GWASDB |
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
|
23620142 |
2013 |
|
Exudative age-related macular degeneration
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
|
exudative macular degeneration
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
None of the SNPs associated with risk of AD but there were potential associations of rs9332739 in the C2 gene and rs4151667 in the complement factor B gene with CSF tau levels (p = 0.023) and Mini-Mental State Examination scores (p = 0.012), both of which may be considered markers of disease intensity/severity.
|
23313922 |
2013 |
|
Complete atrioventricular block
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results showed that transmembrane protein 2 p.Ser1254Asn, interferon alpha 2 p.Ala120Thr, its regulator NLR family member X1 p.Arg707Cys, and complement component 2 p.Glu318Asp were associated with CHB, with P values of <1.0 × 10(-7) , 2.76 × 10(-5) , 5.08 × 10(-5) , 2.78 × 10(-4) and odds ratios (ORs) of 2.45, 4.08, 2.34, and 1.97, respectively.
|
22610944 |
2012 |
|
Glycogen storage disease type II
|
|
0.010 |
GeneticVariation
|
BEFREE |
The risk allele frequency for rs9332739 in C2 (AMD, 0.65%, control, 2.03%) and rs4151667 in CFB (AMD, 0.65%, control, 1.78%) was very low.
|
22273503 |
2012 |
|
Pneumonia, Ventilator-Associated
|
|
0.010 |
GeneticVariation
|
BEFREE |
We hypothesized that genetic variation in C2 (E318D) identifies a high-risk subgroup of patients with trauma reflecting increased mortality and infection (ventilator-associated pneumonia [VAP]).
|
19430225 |
2009 |
|
Polypoidal choroidal vasculopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L region in a Japanese population, genotyping 13 single nucleotide polymorphisms (SNPs) spanning this region, including rs9332739 (E318D), rs547154, rs4151667 (L9H), and rs641153 (R32Q) that are known to be associated with age-related macular degeneration (AMD).
|
19556007 |
2009 |