Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1042522
rs1042522
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.020 GeneticVariation BEFREE We suggest that TP53 Pro47Ser and Arg72Pro polymorphisms and DNA hypermethylation are involved in susceptibility for developing extra-axial brain tumors. 19224462

2009

dbSNP: rs1042522
rs1042522
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
0.010 GeneticVariation BEFREE We studied whether the NAMPT rs1319501, AKT1 rs3730358, p53 rs1042522, Mdm2 rs2279744 or eNOS rs1799983 SNP:s linked to NAMPT and Akt signaling associate with risk of myocardial infarction (MI). 22251423

2012

dbSNP: rs1042522
rs1042522
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.100 GeneticVariation BEFREE We pooled data from four breast cancer cohorts within the Breast Cancer Association Consortium for which both TP53 R72P and MDM2 SNP309 were genotyped and follow-up was available (n = 3,749). 20021639

2009

dbSNP: rs1042522
rs1042522
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.100 GeneticVariation BEFREE We pooled data from four breast cancer cohorts within the Breast Cancer Association Consortium for which both TP53 R72P and MDM2 SNP309 were genotyped and follow-up was available (n = 3,749). 20021639

2009

dbSNP: rs1042522
rs1042522
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.060 GeneticVariation BEFREE We performed this meta-analysis to estimate the association between p53 Arg72Pro</span> polymorphism and endometriosis. 22258307

2012

dbSNP: rs1042522
rs1042522
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We performed a meta-analysis to evaluate the relationship between TP53 Arg72Pro polymorphism and lung cancer susceptibility basing on 15,647 lung cancer patients and 14,391 controls from 36 published literatures. 23595658

2013

dbSNP: rs1042522
rs1042522
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We performed a meta-analysis to evaluate the relationship between TP53 Arg72Pro polymorphism and lung cancer susceptibility basing on 15,647 lung cancer patients and 14,391 controls from 36 published literatures. 23595658

2013

dbSNP: rs1042522
rs1042522
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We performed a meta-analysis to evaluate the relationship between TP53 Arg72Pro polymorphism and lung cancer susceptibility basing on 15,647 lung cancer patients and 14,391 controls from 36 published literatures. 23595658

2013

dbSNP: rs1042522
rs1042522
CUI: C0268074
Disease: Indian childhood cirrhosis
Indian childhood cirrhosis
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs1042522
rs1042522
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs1042522
rs1042522
CUI: C1334177
Disease: Infiltrating Cervical Carcinoma
Infiltrating Cervical Carcinoma
0.010 GeneticVariation BEFREE We performed a case-control association study to evaluate the association between common polymorphisms in MTHFR (C677T and A1298C) and the Arg72Pro polymorphism in the p53 gene and the risk for cervical intraepithelial neoplasia (CIN) or invasive cervical cancer (ICC) in Mexican HPV-infected women. 24474455

2014

dbSNP: rs1042522
rs1042522
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.030 GeneticVariation BEFREE We investigated the frequency of the p53 Arg72Pro genotype in patients with SLE (n = 155) and in controls (n = 150) in Poland. 18250140

2008

dbSNP: rs1042522
rs1042522
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.030 GeneticVariation BEFREE We investigated the effects of the germ-line single nucleotide polymorphisms TP53 R72P (215G>C) and MDM2 SNP309 (-410T>G), and p53 protein expression in breast tumors on survival. 20021639

2009

dbSNP: rs1042522
rs1042522
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We investigated the association between genetic variation in the promoter region of MDM2 (c.-5+309G>T, rs2279744:g.G>T) and the coding region of TP53 (c.215G>C, rs1042522:g.G>C, designated Arg72Pro) and the risk of developing lung cancer. 16287156

2006

dbSNP: rs1042522
rs1042522
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE We investigated the association between genetic variation in the promoter region of MDM2 (c.-5+309G>T, rs2279744:g.G>T) and the coding region of TP53 (c.215G>C, rs1042522:g.G>C, designated Arg72Pro) and the risk of developing lung cancer. 16287156

2006

dbSNP: rs1042522
rs1042522
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We investigated the association between genetic variation in the promoter region of MDM2 (c.-5+309G>T, rs2279744:g.G>T) and the coding region of TP53 (c.215G>C, rs1042522:g.G>C, designated Arg72Pro) and the risk of developing lung cancer. 16287156

2006

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA. 12684657

2003

dbSNP: rs1042522
rs1042522
Fast acetylator due to N-acetyltransferase enzyme variant
0.010 GeneticVariation BEFREE We identified 'less credible' associations (higher heterogeneity, lower statistical power, BFDP > 0.02) with a further four variants of four independent genes: MTHFR c.677C>T p.A222V (rs1801133), TP53 c.215C>G p.R72P (rs1042522), NQO1 c.559C>T p.P187S (rs1800566), and NAT1 alleles imputed as fast acetylator genotypes. 26451011

2016

dbSNP: rs1042522
rs1042522
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. 25292094

2014

dbSNP: rs1042522
rs1042522
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
0.040 GeneticVariation BEFREE We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia. 25292094

2014

dbSNP: rs1042522
rs1042522
Childhood Acute Lymphoblastic Leukemia
0.020 GeneticVariation BEFREE We have therefore identified TP53 R72P as a possible risk modifier for childhood ALL and the association of MDM2 with age at onset with sex effect suggests prenatal hormonal programming of childhood ALL susceptibility. 19837266

2009

dbSNP: rs1042522
rs1042522
CUI: C0028754
Disease: Obesity
Obesity
0.020 GeneticVariation BEFREE We have selected three <i>p53</i> polymorphisms, rs1642785 (C > G), and rs9894946 (A > G), and rs1042522 (Pro72Arg; C > G) and assessed their association with obesity risk in the Saudi population. 31762593

2019

dbSNP: rs1042522
rs1042522
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.080 GeneticVariation BEFREE We have reported previously that the TP53 codon72 polymorphism (rs1042522) is associated with the incidence and invasiveness of bladder cancer in a Han Chinese population. 22178231

2013

dbSNP: rs1042522
rs1042522
Malignant neoplasm of urinary bladder
0.080 GeneticVariation BEFREE We have reported previously that the TP53 codon72 polymorphism (rs1042522) is associated with the incidence and invasiveness of bladder cancer in a Han Chinese population. 22178231

2013

dbSNP: rs1042522
rs1042522
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.080 GeneticVariation BEFREE We have reported previously that the TP53 codon72 polymorphism (rs1042522) is associated with the incidence and invasiveness of bladder cancer in a Han Chinese population. 22178231

2013