CXCL12, C-X-C motif chemokine ligand 12, 6387

N. diseases: 626; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0019693
Disease:
HIV Infections
0.010 GeneticVariation BEFREE After adjusting by age, route of HIV infection, length of infection before cART and viral hepatitis coinfection, CCR2 rs1799864-AG genotype was significantly associated with INR status (OR [95% CI]: 1.80 [1.04-3.11]; p = 0.04), and CXCL12 rs1801157-TT genotype showed a trend (OR [95% CI]: 2.47 [0.96-6.35]; p = 0.06). 30921390 2019
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0275524
Disease:
Coinfection
0.010 GeneticVariation BEFREE After adjusting by age, route of HIV infection, length of infection before cART and viral hepatitis coinfection, CCR2 rs1799864-AG genotype was significantly associated with INR status (OR [95% CI]: 1.80 [1.04-3.11]; p = 0.04), and CXCL12 rs1801157-TT genotype showed a trend (OR [95% CI]: 2.47 [0.96-6.35]; p = 0.06). 30921390 2019
dbSNP: rs2297630
rs2297630
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0243026
Disease:
Sepsis
0.010 GeneticVariation BEFREE The rs1429638 polymorphism in the CXCL1 gene and the rs2297630 polymorphism in the CXCL12 gene were associated with altered susceptibility to sepsis and might be used as important genetic markers to assess the risks of sepsis in trauma patients. 30489503 2019
dbSNP: rs2297630
rs2297630
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0040034
Disease:
Thrombocytopenia
0.010 GeneticVariation BEFREE In this study, non-G group of rs2297630 in SDF1 significantly increased the risk of post-transplant thrombocytopenia in the first week of kidney transplantation. 31009686 2019
dbSNP: rs2297630
rs2297630
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0036690
Disease:
Septicemia
0.010 GeneticVariation BEFREE The rs1429638 polymorphism in the CXCL1 gene and the rs2297630 polymorphism in the CXCL12 gene were associated with altered susceptibility to sepsis and might be used as important genetic markers to assess the risks of sepsis in trauma patients. 30489503 2019
dbSNP: rs2839693
rs2839693
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0036690
Disease:
Septicemia
0.010 GeneticVariation BEFREE Among the 13 tag single nucleotide polymorphisms, four single nucleotide polymorphisms (rs1429638, rs266087, rs2297630, and rs2839693) were significantly associated with the susceptibility to sepsis, and three (rs3117604, rs1429638, and rs4074) were significantly associated with an increased multiple organ dysfunction score in the derivation cohort. 30489503 2019
dbSNP: rs2839693
rs2839693
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0243026
Disease:
Sepsis
0.010 GeneticVariation BEFREE Among the 13 tag single nucleotide polymorphisms, four single nucleotide polymorphisms (rs1429638, rs266087, rs2297630, and rs2839693) were significantly associated with the susceptibility to sepsis, and three (rs3117604, rs1429638, and rs4074) were significantly associated with an increased multiple organ dysfunction score in the derivation cohort. 30489503 2019
dbSNP: rs1065297
rs1065297
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In the allele model, CXCL12 rs1065297 "G" allele, CXCL12 rs4948878 "G" allele and CXCL12 rs10793538 "T" allele were associated with decreased risk of hypertension (rs1065297: OR = 0.53, p = 0.005; rs4948878: OR = 0.51, p = 0.004; rs10793538: OR = 0.58, p = 0.005). 30180964 2018
dbSNP: rs1065297
rs1065297
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE Model analysis found that CXCL12 rs1093538 TA-TT genotype was associated with decreased risk of hypertension in the dominant model (OR = 0.57, p = 0.0015); Log-additive model revealed that rs1065297 and rs4948878 in CXCL12 gene have a potential association with essential hypertension (rs1065297: OR = 0.54, p = 0.005; rs4948878: OR = 0.52, p = 0.0038). 30180964 2018
dbSNP: rs10793538
rs10793538
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In the allele model, CXCL12 rs1065297 "G" allele, CXCL12 rs4948878 "G" allele and CXCL12 rs10793538 "T" allele were associated with decreased risk of hypertension (rs1065297: OR = 0.53, p = 0.005; rs4948878: OR = 0.51, p = 0.004; rs10793538: OR = 0.58, p = 0.005). 30180964 2018
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0343641
Disease:
Human papilloma virus infection
0.010 GeneticVariation BEFREE In the present study, we demonstrated that CXCL12 rs1801157 is independently associated with HPV infection and exerts influence in HSIL development, suggesting it as a promising susceptibility biomarker for HPV infection and lesions development. 30227860 2018
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Conclusion Both dominant and additive models in both KCNJ11 (E23K, rs5219) and SDF-1β (G801A, rs1801157) genetic polymorphisms are significantly associated with type 2 diabetes. 29893194 2018
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE The present study analyzed genetic polymorphisms in CXCL12 (rs1801157, G > A) and CXCR4 (rs2228014, C > T) and CXCR4 immunostaining in tumor tissues from patients with triple negative breast cancer (TNBC) aiming to evaluate their possible role in its' susceptibility and prognosis. 29926386 2018
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE The present study analyzed genetic polymorphisms in CXCL12 (rs1801157, G > A) and CXCR4 (rs2228014, C > T) and CXCR4 immunostaining in tumor tissues from patients with triple negative breast cancer (TNBC) aiming to evaluate their possible role in its' susceptibility and prognosis. 29926386 2018
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1456868
Disease:
Diabetic foot ulcer
0.010 GeneticVariation BEFREE The Interleukin (IL)-6 (-174G > C/rs1800795), Tumor Necrosis Factor (TNF)-α (-308G > A/rs1800629) and (-238G > A/rs361525) and Stromal cell Derived Factor (SDF)-1 (+801G > A/rs1801157) are well characterized single nucleotide polymorphisms (SNPs) which were previously shown to be associated with Diabetic Foot Ulcer (DFU). 30009916 2018
dbSNP: rs4948878
rs4948878
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0085580
Disease:
Essential Hypertension
0.010 GeneticVariation BEFREE Model analysis found that CXCL12 rs1093538 TA-TT genotype was associated with decreased risk of hypertension in the dominant model (OR = 0.57, p = 0.0015); Log-additive model revealed that rs1065297 and rs4948878 in CXCL12 gene have a potential association with essential hypertension (rs1065297: OR = 0.54, p = 0.005; rs4948878: OR = 0.52, p = 0.0038). 30180964 2018
dbSNP: rs4948878
rs4948878
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In the allele model, CXCL12 rs1065297 "G" allele, CXCL12 rs4948878 "G" allele and CXCL12 rs10793538 "T" allele were associated with decreased risk of hypertension (rs1065297: OR = 0.53, p = 0.005; rs4948878</span>: OR = 0.51, p = 0.004; rs10793538: OR = 0.58, p = 0.005). 30180964 2018
dbSNP: rs1065297
rs1065297
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In the allele model, rs1065297, rs266089 and rs10793538 in <i>CXCL12</i> gene associated with the risk of CAD. 28903360 2017
dbSNP: rs10793538
rs10793538
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In the allele model, rs1065297, rs266089 and rs10793538 in <i>CXCL12</i> gene associated with the risk of CAD. 28903360 2017
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0376545
Disease:
Hematologic Neoplasms
0.010 GeneticVariation BEFREE Several recent studies have shown that <i>SDF1</i>-3'A polymorphism (rs1801157) is associated with susceptibility to hematological malignancy, but published studies' results are disputed. 28352190 2017
dbSNP: rs1801157
rs1801157
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE <i>SDF-1</i> rs1801157 polymorphism may not influence the risk of SLE. 29088886 2017
dbSNP: rs197452
rs197452
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Stratified according to age, rs197452 decreased the risk of CAD in less than 50 years old group. 28903360 2017
dbSNP: rs266089
rs266089
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE In the allele model, rs1065297, rs266089 and rs10793538 in <i>CXCL12</i> gene associated with the risk of CAD. 28903360 2017
dbSNP: rs2839693
rs2839693
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Stratified according to gender, rs266089 and rs2839693 in <i>CXCL12</i> gene were associated with the risk of CAD in men, while rs1065297 and rs10793538 in <i>CXCL12</i> gene were associated with the risk of CAD in women. 28903360 2017
dbSNP: rs1029153
rs1029153
Entrez Id: 6387
Gene Symbol: CXCL12
CXCL12
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE In conclusion, in this study we found that the favorable CXCL12 rs1029153 T allele seems to be related so as to achieve an SVR in HIV/HCV-coinfected patients on pegIFN-α/ribavirin therapy. 26499461 2016