|
Schizophrenia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Alpha-2-antiplasmin, Complement C4-A and Antithrombin-III were increased in first-onset schizophrenia patients (uncorrected P-values 0.041, 0.036 and 0.013, respectively) and also increased in newborn babies who later develop schizophrenia (P-values 0.0058, 0.013 and 0.044, respectively).
|
29249827 |
2017 |
|
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 |
|
Burkitt Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The regulatory sequences flanking the inactive miR-146 promoter were hypermethylated at CpG dinucleotides in the EBV positive Burkitt's lymphoma (BL) cell lines of memory B cell phenotype (Rael and Akata), partially methylated in the mammary carcinoma cell lines C2G6 and C4A3, and completely unmethylated in the nasopharyngeal carcinoma cell line C666-1.
|
23528241 |
2013 |
|
Adult Burkitt Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The regulatory sequences flanking the inactive miR-146 promoter were hypermethylated at CpG dinucleotides in the EBV positive Burkitt's lymphoma (BL) cell lines of memory B cell phenotype (Rael and Akata), partially methylated in the mammary carcinoma cell lines C2G6 and C4A3, and completely unmethylated in the nasopharyngeal carcinoma cell line C666-1.
|
23528241 |
2013 |
|
Childhood Burkitt Lymphoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The regulatory sequences flanking the inactive miR-146 promoter were hypermethylated at CpG dinucleotides in the EBV positive Burkitt's lymphoma (BL) cell lines of memory B cell phenotype (Rael and Akata), partially methylated in the mammary carcinoma cell lines C2G6 and C4A3, and completely unmethylated in the nasopharyngeal carcinoma cell line C666-1.
|
23528241 |
2013 |
|
Decreased serum complement C4b
|
0.010 |
Biomarker
|
disease |
BEFREE |
Genotypic and phenotypic studies demonstrated that the patient has homozygous monomodular RCCX in the HLA class III region, with single long C4A genes coding for C4A3 and complete C4B deficiency.
|
20580617 |
2010 |
|
Diabetes
|
0.010 |
Biomarker
|
disease |
BEFREE |
C4B3 was associated with diabetes, consistent with a diabetes gene telomeric of MHC class II.
|
15858601 |
2005 |
|
Diabetes Mellitus
|
0.010 |
Biomarker
|
group |
BEFREE |
C4B3 was associated with diabetes, consistent with a diabetes gene telomeric of MHC class II.
|
15858601 |
2005 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Rheumatic Heart Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Considering that in this investigation only RHD patients were included, further studies are necessary in order to clarify whether C4A6 is a marker for the cardiac form or for the disease itself.
|
7777829 |
1995 |
|
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 |
|
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 |
|
Silicosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
RFLP analysis of C4 and IGLV genes showed significant association between silicosis and a specific RFLP pattern of C4A3-C4B5 allotype (RR = 2.3, P < 0.05) and that of IGLV 5.3 kb (RR = 0.33, P < 0.003).
|
8093341 |
1993 |
|
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 |
|
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 |
|
Myasthenia Gravis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The increase is due to the association between MG and the 8.1 ancestral haplotype (HLA A1, Cw7, B8, BfS, C4AQ0, C4B1, DR3, DQw2).
|
1352699 |
1992 |
|
COMPLEMENT COMPONENT 2 DEFICIENCY
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A25,B18,C2Q0,BfS,C4A4, C4B2,Drw2; this extended haplotype occurs in over 90% of C2-deficient individuals (common complotype/haplotype).
|
1577763 |
1992 |
|
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 |
|
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 |