ITGAV, integrin subunit alpha V, 3685

N. diseases: 141; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3738919
rs3738919
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.040 GeneticVariation BEFREE The rs3738919 and rs10174098 polymorphisms of the ITGAV gene seem not to be associated with susceptibility to RA in Turkish patients. 24375314 2014
dbSNP: rs3738919
rs3738919
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.040 GeneticVariation BEFREE Inclusion of these data in a meta-analysis (random effects) of four independent cohorts (3,527 cases and 4,126 controls) weakens support for the hypothesis that rs3738919 plays a role in the development of RA (OR(combined) = 0.92, 95% confidence interval 0.80 to 1.07; P = 0.29). 19818132 2009
dbSNP: rs3738919
rs3738919
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.040 GeneticVariation BEFREE The rs3738919-C allele of the ITGAV gene is associated with RA in the European Caucasian population, suggesting ITGAV as a new minor RA susceptibility gene. 17615072 2007
dbSNP: rs3738919
rs3738919
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.040 GeneticVariation BEFREE Motivated by linkage data and the hypothesis that angiogenesis plays a functional role in rheumatoid arthritis (RA), Jacq and colleagues present a family-based, multi-stage, candidate gene association study in French and European Caucasians in a paper on the association of the ITGAV rs3738919-C variant allele with RA (C-containing genotypes: odds ratio 1.94, confidence interval 1.3 to 2.9, P = 0.002). 18001496 2007
dbSNP: rs11902171
rs11902171
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0027627
Disease:
Neoplasm Metastasis
0.020 GeneticVariation BEFREE Cases with AT genotype of rs3809865 and GC genotype of rs11902171 were prone to have regional lymph nodes metastasis (P<0.01). 22271436 2012
dbSNP: rs11902171
rs11902171
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0027627
Disease:
Neoplasm Metastasis
0.020 GeneticVariation BEFREE The following factors resulted independently associated with peritoneal carcinosis or hematogenous metastases: the A genotype of rs2269772 (ITGA3) [odds ratio (OR) for peritoneal carcinosis: 22.2, 95% confidence interval 1.2-40, P=0.03], the G genotype of rs2269772 (ITGA3) (OR for hematogenous metastases: 5.5, 95% confidence interval 2.2-14.15, P=0.0003), the C genotype of rs11902171 (ITGV) (OR for peritoneal carcinosis: 6.8, 95% confidence interval 1.3-33.4, P=0.01), the G genotype of rs11902171 (ITGV) (OR for hematogenous metastases: 2.5, 95% confidence interval 1.1-5.7, P = 0.02), diffuse histology (OR for peritoneal carcinosis: 4.7, 95% confidence interval 1.9-11.3, P=0.0005) and intestinal histology (OR for hematogenous metastases: 4.2, 95% confidence interval 1.9-9.9, P=0.0008). 20926544 2011
dbSNP: rs10174098
rs10174098
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE The rs3738919 and rs10174098 polymorphisms of the ITGAV gene seem not to be associated with susceptibility to RA in Turkish patients. 24375314 2014
dbSNP: rs10174098
rs10174098
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0409959
Disease:
Osteoarthritis, Knee
0.010 GeneticVariation BEFREE FN-1 rs6725958C/A and ITGAV rs10174098A/G SNPs were only associated with knee OA when both study groups were combined. 24886251 2014
dbSNP: rs11902171
rs11902171
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE The ITGAv gene SNP rs1190</span>2171 may be potentially associated with the risk of prostate cancer. 23065910 2014
dbSNP: rs11902171
rs11902171
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE The ITGAv gene SNP rs1190</span>2171 may be potentially associated with the risk of prostate cancer. 23065910 2014
dbSNP: rs3768777
rs3768777
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Moreover, there was a significant association between RA and the genotypic distribution of rs3768777 (GG + AG vs. AA: OR 2.1, 95 % CI 1.3-3.4; GG vs. AG + AA: OR 4.1, 95 % CI 2.1-7.8). 24375314 2014
dbSNP: rs3911238
rs3911238
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Thus, the present study demonstrated that the link between systemic inflammatory markers and the ITGAV-rs3911238 polymorphism allele in Iranian RA patients. 25150077 2014
dbSNP: rs10174098
rs10174098
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0008312
Disease:
Primary biliary cirrhosis
0.010 GeneticVariation BEFREE Three tag SNPs (rs3911238, rs10174098, and rs1448427) in ITGAV were significantly associated with the severe progression of PBC, but not with susceptibility to the onset of PBC, in the primary study (PBC cohort I). 21116829 2011
dbSNP: rs11902171
rs11902171
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Tumor histology represents a crucial issue conditioning tumoral behavior; genotyping of rs2269772 (ITGA3) and rs11902171 (ITGV) may be a further asset in the definition of high-risk patients for peritoneal carcinosis among those relapsing after curative resection. 20926544 2011
dbSNP: rs11902171
rs11902171
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0205699
Disease:
Carcinomatosis
0.010 GeneticVariation BEFREE Tumor histology represents a crucial issue conditioning tumoral behavior; genotyping of rs2269772 (ITGA3) and rs11902171 (ITGV) may be a further asset in the definition of high-risk patients for peritoneal carcinosis among those relapsing after curative resection. 20926544 2011
dbSNP: rs11902171
rs11902171
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C2939419
Disease:
Secondary Neoplasm
0.010 GeneticVariation BEFREE The following factors resulted independently associated with peritoneal carcinosis or hematogenous metastases: the A genotype of rs2269772 (ITGA3) [odds ratio (OR) for peritoneal carcinosis: 22.2, 95% confidence interval 1.2-40, P=0.03], the G genotype of rs2269772 (ITGA3) (OR for hematogenous metastases: 5.5, 95% confidence interval 2.2-14.15, P=0.0003), the C genotype of rs11902171 (ITGV) (OR for peritoneal carcinosis: 6.8, 95% confidence interval 1.3-33.4, P=0.01), the G genotype of rs11902171 (ITGV) (OR for hematogenous metastases: 2.5, 95% confidence interval 1.1-5.7, P = 0.02), diffuse histology (OR for peritoneal carcinosis: 4.7, 95% confidence interval 1.9-11.3, P=0.0005) and intestinal histology (OR for hematogenous metastases: 4.2, 95% confidence interval 1.9-9.9, P=0.0008). 20926544 2011
dbSNP: rs1448427
rs1448427
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0008312
Disease:
Primary biliary cirrhosis
0.010 GeneticVariation BEFREE Three tag SNPs (rs3911238, rs10174098, and rs1448427) in ITGAV were significantly associated with the severe progression of PBC, but not with susceptibility to the onset of PBC, in the primary study (PBC cohort I). 21116829 2011
dbSNP: rs1448427
rs1448427
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0085605
Disease:
Liver Failure
0.010 GeneticVariation BEFREE Among these SNPs, rs1448427 was also significantly associated with the severe progression to end-stage hepatic failure in the replication study of PBC patients who underwent liver transplantation (PBC cohort II). 21116829 2011
dbSNP: rs3911238
rs3911238
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0008312
Disease:
Primary biliary cirrhosis
0.010 GeneticVariation BEFREE Three tag SNPs (rs3911238, rs10174098, and rs1448427) in ITGAV were significantly associated with the severe progression of PBC, but not with susceptibility to the onset of PBC, in the primary study (PBC cohort I). 21116829 2011
dbSNP: rs11685758
rs11685758
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The ITGAV intron SNPs rs9333289 and rs11685758, the 3'-untranslated region SNP rs1839123 and haplotype 3 (T-T-A) were associated with enhanced susceptibility to HBV-infected HCC (OR=1.75-2.42; P=0.02-0.05), while the intron SNP rs2290083 was associated with both chronic infection and HBV-infected HCC (OR=1.73-2.01; P=0.01-0.04). 18694400 2009
dbSNP: rs1839123
rs1839123
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The ITGAV intron SNPs rs9333289 and rs11685758, the 3'-untranslated region SNP rs1839123 and haplotype 3 (T-T-A) were associated with enhanced susceptibility to HBV-infected HCC (OR=1.75-2.42; P=0.02-0.05), while the intron SNP rs2290083 was associated with both chronic infection and HBV-infected HCC (OR=1.73-2.01; P=0.01-0.04). 18694400 2009
dbSNP: rs2290083
rs2290083
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The ITGAV intron SNPs rs9333289 and rs11685758, the 3'-untranslated region SNP rs1839123 and haplotype 3 (T-T-A) were associated with enhanced susceptibility to HBV-infected HCC (OR=1.75-2.42; P=0.02-0.05), while the intron SNP rs2290083 was associated with both chronic infection and HBV-infected HCC (OR=1.73-2.01; P=0.01-0.04). 18694400 2009
dbSNP: rs9333289
rs9333289
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The ITGAV intron SNPs rs9333289 and rs11685758, the 3'-untranslated region SNP rs1839123 and haplotype 3 (T-T-A) were associated with enhanced susceptibility to HBV-infected HCC (OR=1.75-2.42; P=0.02-0.05), while the intron SNP rs2290083 was associated with both chronic infection and HBV-infected HCC (OR=1.73-2.01; P=0.01-0.04). 18694400 2009
dbSNP: rs201332846
rs201332846
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0040015
Disease:
Thrombasthenia
0.010 GeneticVariation BEFREE A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. 8781422 1996
dbSNP: rs766879669
rs766879669
Entrez Id: 3685
Gene Symbol: ITGAV
ITGAV
CUI: C0040015
Disease:
Thrombasthenia
0.010 GeneticVariation BEFREE A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia. 8781422 1996