|
Kidney Diseases
|
|
0.800 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
|
21399633 |
2011 |
|
Kidney Diseases
|
|
0.800 |
GeneticVariation
|
GWASDB |
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
|
21399633 |
2011 |
|
IGA Glomerulonephritis
|
|
0.750 |
GeneticVariation
|
BEFREE |
Moreover, rs6677604 might contribute to the difference of complement activation intensity between IgAVN and IgAN.
|
30838755 |
2020 |
|
IGA Glomerulonephritis
|
|
0.750 |
GeneticVariation
|
BEFREE |
We found both rs800292-GG and rs6677604-GG were risk genotypes for complement activation in IgAN patients, as represented by lower plasma C3 levels in IgAN patients with rs800292-GG and a higher intensity of glomerular C3 deposits in those with rs6677604-GG, respectively.
|
30219152 |
2018 |
|
IGA Glomerulonephritis
|
|
0.750 |
GeneticVariation
|
BEFREE |
Our pooled analysis showed a significant association between rs6677604-(A) allele and Ig</span>AN susceptibility, supporting the importance of complement activation in the pathogenesis of IgAN.
|
29240274 |
2018 |
|
IGA Glomerulonephritis
|
|
0.750 |
GeneticVariation
|
BEFREE |
The CFHR3,1Δ and rs6677604-A alleles were rare (4.4% in patients and 7.1% in controls) and in strong linkage disequilibrium with each other (r<sup>2</sup>=0.95); of these alleles, CFHR3,1Δ associated more significantly with decreased risk of IgAN (odds ratio [OR], 0.56; 95% confidence interval [95% CI], 0.46 to 0.70; P=8.5 × 10<sup>-8</sup> versus OR, 0.61; 95% CI, 0.50 to 0.75; P=1.6 × 10<sup>-6</sup> for rs6677604-A).
|
26940089 |
2016 |
|
IGA Glomerulonephritis
|
|
0.750 |
GeneticVariation
|
BEFREE |
Our recent genome-wide association study of IgAN identified susceptibility loci on 1q32 containing the complement regulatory protein-encoding genes CFH and CFHR1-5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3-1 deletion (CFHR3-1∆) as the top signal for copy number variation.
|
25205734 |
2015 |
|
IGA Glomerulonephritis
|
|
0.750 |
GeneticVariation
|
GWASCAT |
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
|
25305756 |
2014 |
|
Age related macular degeneration
|
|
0.720 |
GeneticVariation
|
BEFREE |
Analysis of AMD associated genetic variants included frequent polymorphisms at the complement factor H (CFH, MIM 134370) gene (rs1061170 [p.Y402H], rs800292 [p.I62V]), the complement factor H-related 3 (CFHR3, MIM 605336)/complement factor H-related 1 (CFHR1, MIM 134371) locus (rs6677604; proxy for ΔCFHR3/CFHR1; r(2) = 0.97) as well as the age-related maculopathy susceptibility 2 (ARMS2, MIM 611313) gene (rs10490924 [p.A69S]).
|
23103884 |
2013 |
|
Age related macular degeneration
|
|
0.720 |
GeneticVariation
|
BEFREE |
The plasma CFH-raising rs6677604 allele and raised plasma CFH concentration were each associated with AMD protection.
|
23873044 |
2013 |
|
Age related macular degeneration
|
|
0.720 |
GeneticVariation
|
GWASDB |
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
|
23326517 |
2013 |
|
Complement factor H measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Connecting genetic risk to disease end points through the human blood plasma proteome.
|
28240269 |
2017 |
|
Nephritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Moreover, rs6677604 might contribute to the difference of complement activation intensity between IgAVN and IgAN.
|
30838755 |
2020 |
|
Lupus Nephritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs6677604-GG genotype was observed to be associated with the absence of anti-ds DNA antibody ( P = .021), and the rs800292-TT genotype was associated with a higher level of circulating C3 ( P = 0.20) in lupus nephritis.
|
28403670 |
2017 |
|
Lupus Erythematosus, Systemic
|
|
0.010 |
GeneticVariation
|
BEFREE |
Significant allelic associations with SLE wer</span>e detected in European Americans (EA) and African Americans (AA), which could be attributed to an intronic CFH SNP (rs6677604, in intron 11, P(meta) = 6.6×10(-8), OR = 1.18) and an intergenic SNP between CFHR1 and CFHR4 (rs16840639, P(meta) = 2.9×10(-7), OR = 1.17) rather than to previously identified disease-associated CFH exonic SNPs, including I62V, Y402H, A474A, and D936E.
|
21637784 |
2011 |