|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs558702
|
C2;CYP21A2;ZBTB12
|
Lupus Erythematosus, Systemic
|
A |
0.800 |
GeneticVariation |
GWASDB |
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
|
24871463 |
2014 |
|
rs558702
|
C2;CYP21A2;ZBTB12
|
Lupus Erythematosus, Systemic
|
A |
0.800 |
GeneticVariation |
GWASCAT |
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
|
24871463 |
2014 |
|
rs9380272
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
A |
0.800 |
GeneticVariation |
GWASCAT |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
rs9380272
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
A |
0.800 |
GeneticVariation |
GWASDB |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
rs644045
|
C2;CYP21A2
|
Endometriosis
|
|
0.710 |
GeneticVariation |
BEFREE |
We have also identified significant association with endometriosis of 18 SNPs localised on chromosome 6 in position range 31883957 - 32681631 (C2 and HLA-DRA genes region) with the lowest observed p value for rs644045 in C2 gene (p=2.04×10<sup>-8</sup>, OR=1.955, 95% CI=1.541-2.480).
|
28881265 |
2017 |
|
rs644045
|
C2;CYP21A2
|
Endometriosis
|
T |
0.710 |
GeneticVariation |
GWASCAT |
We have also identified significant association with endometriosis of 18 SNPs localised on chromosome 6 in position range 31883957 - 32681631 (C2 and HLA-DRA genes region) with the lowest observed p value for rs644045 in C2 gene (p=2.04×10<sup>-8</sup>, OR=1.955, 95% CI=1.541-2.480).
|
28881265 |
2017 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
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 |
|
rs497309
|
C2;CYP21A2
|
Diabetes
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
|
31451708 |
2019 |
|
rs497309
|
C2;CYP21A2
|
Glomerular Filtration Rate
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
|
31451708 |
2019 |
|
rs497309
|
C2;CYP21A2
|
Diabetes Mellitus
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
|
31451708 |
2019 |
|
rs622871
|
C2;CYP21A2
|
Lean body mass
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
|
30593698 |
2019 |
|
rs78593564
|
C2;CYP21A2;C2-AS1
|
von Willebrand's factor (lab test)
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
|
30586737 |
2019 |
|
rs1042663
|
C2;CYP21A2;C2-AS1
|
Blood Protein Measurement
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
rs114508013
|
C2;CYP21A2;ZBTB12
|
Blood Protein Measurement
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
rs115884658
|
C2;CYP21A2;EHMT2
|
Diabetes Mellitus, Non-Insulin-Dependent
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
|
29358691 |
2018 |