rs172378, C1QA

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.020 GeneticVariation BEFREE Genotyping for C1qA[276A/G] was done in 164 patients with DLBCL. 22897949 2012
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.020 GeneticVariation BEFREE The influence of C1qA-A276G polymorphisms in DLBCL, and the impact of both polymorphisms on susceptibility to LON and outcome were also examined. 21883784 2012
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE A synonymous single nucleotide polymorphism (SNP) rs172378 (A>G, Gly->Gly) in the complement component C1QA has been proposed to be associated with distant breast cancer metastasis. 20332777 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE We found that although rs172378 showed differential allelic expression significantly different between normal (preferentially expressing the G allele) and tumour tissue samples (preferentially expressing the A allele), there was no significant difference in survival by rs172378 genotype (per allele hazard ratio (HR) 1.02, 95% CI: 0.88-1.19, P=0.78 for all-cause mortality; HR 1.03, 95% CI: 0.87-1.22, P=0.72 for breast-cancer-specific mortality). 20332777 2010
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.020 GeneticVariation BEFREE Our study results show that rs172378 is linked to a cis-regulatory element affecting gene expression and that allelic preferential expression is altered in tumour samples, but do not support an association between genetic variation in C1QA and breast cancer survival. 20332777 2010
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Our study results show that rs172378 is linked to a cis-regulatory element affecting gene expression and that allelic preferential expression is altered in tumour samples, but do not support an association between genetic variation in C1QA and breast cancer survival. 20332777 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE Genotyping for C1qA[276A/G] was performed in 63 breast cancer subjects with localized tumor and compared with that in 38 breast cancer subjects with metastasis. 16465510 2006
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE Genotyping for C1qA[276A/G] was performed in 63 breast cancer subjects with localized tumor and compared with that in 38 breast cancer subjects with metastasis. 16465510 2006
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.020 GeneticVariation BEFREE There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls. 16465510 2006
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.020 GeneticVariation BEFREE There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls. 16465510 2006
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
0.010 GeneticVariation BEFREE These results support the implication of the G allele in rs172378 as a risk factor for lupus nephritis in a homozygous status, at least for a Bulgarian population. 25326229 2015
Late onset neutropenia
CUI: C3805247
Disease: Late onset neutropenia
0.010 GeneticVariation BEFREE The FCGR3A-V158F but not the C1qA-A276G polymorphism influenced the risk of developing LON. 21883784 2012
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE The C1qA SNPs, rs172378 and rs665691, confer no genetic predisposition to SLE in a Chinese Han population. 22236909 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE We analysed the gene expression pattern of rs172378 in normal and tumour tissue samples, and further explored its involvement in relation to mortality in 2270 women with breast cancer participating in Studies of Epidemiology and Risk factors in Cancer Heredity, a population-based case-control study. 20332777 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE We analysed the gene expression pattern of rs172378 in normal and tumour tissue samples, and further explored its involvement in relation to mortality in 2270 women with breast cancer participating in Studies of Epidemiology and Risk factors in Cancer Heredity, a population-based case-control study. 20332777 2010
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.010 GeneticVariation BEFREE Genotyping for C1qA([276A/G]) was done in 133 subjects with follicular lymphoma treated with single-agent rituximab, and correlation with clinical response was done using Cox regression analysis. 18927313 2008