|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A null-variant in HMCN1 has been identified in one AMD family, and a missense variant in CFI was discovered in two other families.
|
25986072 |
2015 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, the HMCN1 p.Gln5346Arg mutation, which is thought to be a causal mutation in a large AMD pedigree segregating the disease as a single-gene trait, appears to occur in our control cohort as a low-frequency polymorphism with an allele frequency of approximately 0.0026.
|
17216616 |
2007 |
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
LHGDN |
Polymorphisms in both CFH and HMCN1 appeared to influence the longitudinal rate of change of AMD.
|
17591627 |
2007 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in both CFH and HMCN1 appeared to influence the longitudinal rate of change of AMD.
|
17591627 |
2007 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We wanted to investigate whether the polymorphisms of the CFH and the ELOVL4 genes or the mutation of the HMCN1 gene are associated with AMD in patients originating from the Finnish population with characteristics of a genetic isolate.
|
16885922 |
2006 |
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
LHGDN |
The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.
|
17157600 |
2006 |
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
BEFREE |
The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.
|
17157600 |
2006 |
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
LHGDN |
The distribution of the Hemicentin-1 Q5345R, hOgg1 S326C, and E-selectin S149R SNPs did not differ significantly (all P values > .05) between the AMD patients and controls.
|
17057786 |
2005 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Concentrating on a region harboring a locus for AMD on 1q25-31, the ARMD1 locus, we tested single-nucleotide polymorphisms for association with AMD in two independent case-control populations.
|
15761121 |
2005 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The data can be reconciled through proposing both additional variants in HEMICENTIN-1 and a second genetic risk factor for AMD in the region.
|
16020313 |
2005 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data on relatively limited numbers of study subjects do not suggest a significant role for genetic variation in the three laminin genes and in exon 104 of HEMICENTIN-1 in predisposing individuals to ARM.
|
15370542 |
2004 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The A16,263G mutation in the HEMICENTIN-1 gene produces a non-conservative substitution of arginine for glutamine at codon 5345 which has been implicated in familial AMD.
|
15467524 |
2004 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
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 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The SNP analysis for hemicentin-1 on 1q31 suggests that variants within or in very close proximity to this gene cause ARMD pathogenesis.
|
14691731 |
2004 |
|
Age related macular degeneration
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It was also identified in 11 other individuals, all of whom share a haplotype, which envelops HEMICENTIN-1, with the large AMD family.
|
14570714 |
2003 |
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Age related macular degeneration
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|