Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746076530
rs746076530
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE Erythropoietin modulates the immune-inflammatory response of a SOD1(G93A) transgenic mouse model of amyotrophic lateral sclerosis (ALS). 24820540

2014

dbSNP: rs746076530
rs746076530
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE Using an ALS mouse model carrying a high copy number of a mutant human superoxide dismutase-1 (SOD1)(G93A) transgene, we investigated the effect of neural induction on the innate therapeutic potential of mesenchymal stem cells (MSCs) in relation to preclinical transplantation parameters. 22472631

2013

dbSNP: rs746076530
rs746076530
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE Monocyte Chemoattractant Protein-1 upregulates GABA-induced current: evidence of modified GABAA subunit composition in cortical neurons from the G93A mouse model of Amyotrophic Lateral Sclerosis. 23752092

2013

dbSNP: rs746076530
rs746076530
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.040 GeneticVariation BEFREE In the superoxide dismutase 1 (SOD1)-G93A mouse model of amyotrophic lateral sclerosis (ALS), skeletal muscle is a key target of mutant SOD1 toxicity. 21346327

2011

dbSNP: rs2857656
rs2857656
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal
0.020 GeneticVariation BEFREE We found that the rs1024611 -2518 GG, rs2857656 -362 CC and rs3917887 int1del554-567 del/del homozygous genotypes each were significantly more prevalent in patients than in controls (respective corrected p value [Pc]=0.01, 0.04 and 0.04) Haplotype distribution profile further confirmed this, as the homozygous combination of GCdel haplotype was also found with raised susceptibility to Pott's disease (Pc=0.03). 26626202

2016

dbSNP: rs2857656
rs2857656
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal
0.020 GeneticVariation BEFREE The MCP-1-362G/C (rs2857656) polymorphism and blood levels of MCP-1 in patients with spinal TB and healthy subjects were evaluated and compared. 24183600

2014

dbSNP: rs3760396
rs3760396
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE Our study suggested rs3760396 polymorphism of CCL2 is associated not only with prognosis of NSCLC, but also with risk of lung cancer in a subtype-specific manner. 27145753

2016

dbSNP: rs3760396
rs3760396
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 GeneticVariation BEFREE The results showed that variant genotypes of CCL2 rs3760396 and CCL8 rs3138035 were associated with a significantly decreased risk of death for NSCLC (dominant model: adjusted HR=0.65, 95% CI=0.48-0.89 for rs3760396; dominant model: adjusted HR=0.65, 95% CI=0.49-0.86 for rs3138035), while CXCL12 rs1804429 was associated with an increased risk of death for NSCLC (CC vs AA: adjusted HR=6.03, 95% CI=1.44-25.24). 21514686

2011

dbSNP: rs4586
rs4586
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 GeneticVariation BEFREE Linear univariate and ANCOVA modeling was performed to show the interaction of rs1024611 with another SNP variant of CCL-2/CCR-2 (rs4586 and rs1799865) and impact of individual genotypes on CCL-2 expression in the context of AMD pathology. 29664944

2018

dbSNP: rs4586
rs4586
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.020 GeneticVariation BEFREE The binary logistic regression model is an appropriate tool to predict AMD in the presence of serum CFH, serum CCL2, serum SOD1, polymorphism in CCL2 (rs4586), stress, and comorbidity with high specificity and sensitivity. 23848218

2013

dbSNP: rs13900
rs13900
CUI: C0023283
Disease: Leishmaniasis, Cutaneous
Leishmaniasis, Cutaneous
0.010 GeneticVariation BEFREE Polymorphisms in regulatory regions of the <i>CCL2</i> promoter were analyzed in a pilot cohort of DNA samples from CL patients (cures n=20 and treatment failure n=20), showing putative association of rs13900(C/T) and rs2857656(G/C) with treatment outcome. 31818959

2020

dbSNP: rs13900
rs13900
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 GeneticVariation BEFREE Susceptibility to HCV infection is associated with A alleles of both (rs743660 and rs1799864 G/A) of CCR2 while spontaneous clearance of HCV is associated with the C allele of rs13900 of CCL2 and T allele of rs3817655 of CCL5. 30175654

2019

dbSNP: rs2857656
rs2857656
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis
0.010 GeneticVariation BEFREE The rs1024611 AG/GG and rs2857656 GC/CC genotypes were both overrepresented in patients with severe sepsis (both P = 0.0005) and septic shock (P = 0.010 and P = 0.015, respectively) compared to the patients with mild sepsis. 28472164

2017

dbSNP: rs2857656
rs2857656
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 GeneticVariation BEFREE This study provides valuable clinical evidence that the MCP-1/CCL2 polymorphisms rs1024611 and rs2857656 are associated with sepsis susceptibility and development. 28472164

2017

dbSNP: rs2857656
rs2857656
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 GeneticVariation BEFREE This study provides valuable clinical evidence that the MCP-1/CCL2 polymorphisms rs1024611 and rs2857656 are associated with sepsis susceptibility and development. 28472164

2017

dbSNP: rs2857656
rs2857656
Premature coronary artery atherosclerosis
0.010 GeneticVariation BEFREE The MCP-1 rs2857656 CC genotype is independently associated with carotid artery plaque in African American from families with premature coronary artery disease. 19506371

2009

dbSNP: rs2857657
rs2857657
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
0.010 GeneticVariation BEFREE The CCL2 rs2857657 variant (G) allele was observed more frequently in female knee OA cases than in controls. 23211090

2013

dbSNP: rs3760396
rs3760396
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 GeneticVariation BEFREE Our study suggested rs3760396 polymorphism of CCL2 is associated not only with prognosis of NSCLC, but also with risk of lung cancer in a subtype-specific manner. 27145753

2016

dbSNP: rs3760396
rs3760396
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our study suggested rs3760396 polymorphism of CCL2 is associated not only with prognosis of NSCLC, but also with risk of lung cancer in a subtype-specific manner. 27145753

2016

dbSNP: rs3760396
rs3760396
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Our study suggested rs3760396 polymorphism of CCL2 is associated not only with prognosis of NSCLC, but also with risk of lung cancer in a subtype-specific manner. 27145753

2016

dbSNP: rs3760396
rs3760396
CUI: C0206623
Disease: Adenosquamous carcinoma
Adenosquamous carcinoma
0.010 GeneticVariation BEFREE Although rs3760396 polymorphism was not significantly associated with increased risk of adenocarcinoma subtype, it was nominally associated with the pooled outcome of either adenocarcinoma or adenosquamous carcinoma under allelic genetic model (OR = 1.54, P = 0.023) or dominant genetic model (OR = 1.57, P = 0.031). 27145753

2016

dbSNP: rs3760396
rs3760396
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 GeneticVariation BEFREE Although rs3760396 polymorphism was not significantly associated with increased risk of adenocarcinoma subtype, it was nominally associated with the pooled outcome of either adenocarcinoma or adenosquamous carcinoma under allelic genetic model (OR = 1.54, P = 0.023) or dominant genetic model (OR = 1.57, P = 0.031). 27145753

2016

dbSNP: rs3760396
rs3760396
CUI: C0279557
Disease: Adenosquamous cell lung cancer
Adenosquamous cell lung cancer
0.010 GeneticVariation BEFREE However, minor allele G of rs3760396 polymorphism was significantly associated with increased risk of adenosquamous lung carcinoma with either allelic genetic model (OR = 5.29, P < 0.001), or dominant genetic model (OR = 9.88, P < 0.001), or genotypic model (GC genotype vs. CC genotype, OR = 10.73, P < 0.001). 27145753

2016

dbSNP: rs3760396
rs3760396
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE These data suggest that MCP-1 rs1024611A/G and rs3760396C/G polymorphisms are associated with increased susceptibility to ovarian cancer, in which rs1024611A/G may increase serum level of MCP-1 in the Chinese population. 25289731

2015

dbSNP: rs3760396
rs3760396
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE In this analysis adjusted by age and gender, the rs3760396 CC genotype was associated with low levels of gamma-glutamyl transpeptidase (P=0.002), whereas, the rs1024610 TT genotype was associated with decreased risk of T2DM (P=0.035) in premature CAD patients. 26277553

2015