|
Alzheimer's Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Changes of the proportion between CO II and CO IV transcripts may contribute to the kinetic perturbation of CO documented in AD.
|
10447460 |
1999 |
|
Alzheimer's Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Using in situ hybridization, we found a selective reduction in mRNA levels for a mitochondrial-encoded subunit, CO II, with preservation of mRNA for a nuclear-encoded subunit, CO IV, in the hippocampal formation of individuals with AD.
|
8083692 |
1994 |
|
Alzheimer's Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
It also seems that the C4B2 allele cannot be used as a marker for AD as has been suggested by others.
|
1940983 |
1991 |
|
Alzheimer's Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
In contrast to reported findings we failed to find a significant association between C4B2 gene frequency and Alzheimer's dementia.
|
3350531 |
1988 |
|
Alzheimer's Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
We were unable to confirm any association between AD and the C4B2 allele.
|
3502596 |
1987 |
|
Alzheimer's Disease
|
0.070 |
Biomarker
|
disease |
BEFREE |
Sporadic DAT appears to be associated with the complement allotype C4B2 in the major histocompatibility complex, which is linked very closely to HLA.
|
3331113 |
1987 |
|
Alzheimer's Disease
|
0.070 |
GeneticVariation
|
disease |
BEFREE |
HLA-linked complement markers in Alzheimer's and Parkinson's disease: C4 variant (C4B2) a possible marker for senile dementia of the Alzheimer type.
|
6538270 |
1984 |
|
Rheumatoid Arthritis
|
0.060 |
Biomarker
|
disease |
BEFREE |
The frequency of C4A4 was higher in RA patients compared to controls (RR: 1.86, 95% CI: 1.03-3.35), especially in DR4 positive RA patients compared to DR4 positive controls (RR: 2.58, 95% CI: 1.07-6.25), indicating a positive association of this allotype with RA additional to DR4.
|
1563983 |
1992 |
|
Rheumatoid Arthritis
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
In contrast, in patients with RA abnormal frequencies of the MHC antigens DR4 and DR2 and the extended haplotypes associated with them [B62 BfS C4A3 C4B3 DR4 GLO2] and [B7 BfS C4A3 C4B1 DR2] confirmed the observations reported on other white populations.
|
2111123 |
1990 |
|
Rheumatoid Arthritis
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
The metabolism of the C4 allotypes C4A3,B1 and C4A3,BO was studied in five healthy control subjects and six patients with active immunological disease (five with systemic lupus erythematosus and one with rheumatoid arthritis).
|
2530015 |
1989 |
|
Rheumatoid Arthritis
|
0.060 |
Biomarker
|
disease |
BEFREE |
We describe here an Nco I restriction fragment length polymorphism of tumor necrosis factor carried by the 8.1 (HLA-A1,B8,BfS,C4AQ0,C4B1,DR3) and the 44.1 (HLA-B44,BfS,C4A3,C4BQ0,DR4) ancestral haplotypes associated with complications of rheumatoid arthritis.
|
2573586 |
1989 |
|
Rheumatoid Arthritis
|
0.060 |
Biomarker
|
disease |
BEFREE |
These data support the existence of 2 different putative susceptibility haplotypes (HLA-Bw54 or Bw59;C2C; BFS;C4A3;C4B5;DR4.1;DQw4 and C2C;BFS; C4AQ0;C4B1 or C4B2) in Japanese patients with RA.
|
2567598 |
1989 |
|
Rheumatoid Arthritis
|
0.060 |
Biomarker
|
disease |
BEFREE |
There was no statistically significant differences in C4A or C4B gene frequencies between RA and control groups, although there were trends for C4B*Q0 to be reduced and C4B2 to be increased in DR4 positive RA compared with DR4 positive controls.
|
2711369 |
1989 |
|
Lupus Erythematosus, Systemic
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
A large deletion covering most of the C4A gene and the 21-hydroxylase-A (21-OHA) pseudogene found on the extended haplotype B8-C4AQ0-C4B1-DR3 is estimated to account for approximately two-thirds of C4A deficiency in Caucasian SLE patients.
|
11033017 |
2000 |
|
Lupus Erythematosus, Systemic
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The contribution to systemic lupus erythematosus (SLE) of three lupus-associated polymorphisms (involving the C4A2 complement component, Humhv3005 and the T cell antigen receptor alpha chain gene) are investigated in 81 individuals from 14 multiplex SLE families, 41 unrelated lupus patients, and 88 unrelated healthy controls.
|
7706484 |
1995 |
|
Lupus Erythematosus, Systemic
|
0.030 |
Biomarker
|
disease |
BEFREE |
Two haplotypes, B8-C4AQ0-C4B1-DR3 and B7-C4A3-C4B1-DR2, were identified as risk factors for SLE.
|
1401069 |
1992 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.030 |
Biomarker
|
disease |
BEFREE |
The combination of the HLA complement allotypes BFS, C2C, C4AQ0 (deleted gene) and C4B1, termed SC01 complotype, usually present in the HLA-B8,DR3,DQw2 diabetogenic haplotype, has also been found in a novel "low frequency" HLA-B49,DR4,DQw8 haplotype associated with Spanish insulin-dependent diabetes mellitus (IDDM).
|
1682241 |
1991 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The absolute risk of IDDM was approximately 0.5 in subjects who were homozygous for B18 C4A3 C4BQ0 BfF1 DR3.
|
3865895 |
1985 |
|
Diabetes Mellitus, Insulin-Dependent
|
0.030 |
Biomarker
|
disease |
BEFREE |
It is probable that while interaction between certain HLA-DR3 and DR4-containing supratypes is important in conferring susceptibility to Type 1 diabetes, other manifestations of autoimmunity are associated with supratypes containing C4AQ0, and in particular the diabetogenic supratype HLA-B8-C4AQ0-C4B1-BfS-DR3.
|
6332753 |
1984 |
|
Complement Component 4a Deficiency
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Instead, most East Asian subjects with C4A deficiency were found to have a recombinant haplotype with bimodular C4-Long and C4-Short genes, encoding C4B1 and C4B96, which was linked to HLA-DRB1*1501.
|
26814708 |
2016 |
|
Protein Deficiency
|
0.020 |
Biomarker
|
disease |
BEFREE |
All individuals carrying haplotype B8-C4AQ0-C4B1-DR3 had a deletion, and the deletion was also found on haplotypes B8-C4AQ0-C4B1-DR7 and B7-C4AQ0-C4B1-DR3.
|
15794202 |
2004 |
|
Protein Deficiency
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Half the patients with C4A protein deficiency carry C4AQ0 on the classical C4A deletion haplotype B8-C4AQ0-C4B1-DR3 or variants of it, and the remaining C4A deficient patients on other non-DR3 carrying haplotypes.
|
11093438 |
2000 |
|
Complement Component 4a Deficiency
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A large deletion covering most of the C4A gene and the 21-hydroxylase-A (21-OHA) pseudogene found on the extended haplotype B8-C4AQ0-C4B1-DR3 is estimated to account for approximately two-thirds of C4A deficiency in Caucasian SLE patients.
|
11033017 |
2000 |
|
Autoimmune Diseases
|
0.020 |
Biomarker
|
group |
BEFREE |
These patients probably carried all, or at least the class II and III regions, of the extended haplotype marked by B8/C4A*Q0/C4B1/BfS/DR3/DR52, which has been associated with several autoimmune diseases and is present in 11% of the healthy caucasoid population.
|
7923882 |
1994 |
|
Primary biliary cirrhosis
|
0.020 |
Biomarker
|
disease |
BEFREE |
C4B2 genotyping was performed on 64 patients with primary biliary cirrhosis and 61 controls matched for ethnic background and frequency of HLA-DR8.
|
7927254 |
1994 |