Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4746
rs4746
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with absence of progesterone receptor. 20712647

2010

dbSNP: rs4746
rs4746
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Glyoxalase I Ala111Glu gene polymorphism: No association with breast cancer risk but correlated with absence of progesterone receptor. 20712647

2010

dbSNP: rs4746
rs4746
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE In the present case-control study, we investigated the possible association of CYP17 A1A2, GSTP1 ILE105VAL, PON1 Q192R or L55M, and GLO1 A111E polymorphisms with the risk of BC. 19379515

2009

dbSNP: rs4746
rs4746
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. 19452310

2009

dbSNP: rs4746
rs4746
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE Glyoxalase I Glu111Ala polymorphism in patients with breast cancer. 19452310

2009

dbSNP: rs4746
rs4746
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 GeneticVariation BEFREE In the present case-control study, we investigated the possible association of CYP17 A1A2, GSTP1 ILE105VAL, PON1 Q192R or L55M, and GLO1 A111E polymorphisms with the risk of BC. 19379515

2009

dbSNP: rs4746
rs4746
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 GeneticVariation BEFREE A family-based association study involving 385 simplex and 20 multiplex Italian families yielded a significant association with autism driven only by the rs4746 C332 (Ala111) allele itself (P < 0.05 and P < 0.001 under additive and dominant/recessive models, respectively). 25201284

2014

dbSNP: rs4746
rs4746
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.020 GeneticVariation BEFREE Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity--implications for autism. 21491613

2011

dbSNP: rs4746
rs4746
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.020 GeneticVariation BEFREE The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. 20185929

2010

dbSNP: rs4746
rs4746
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.020 GeneticVariation BEFREE The A419C (E111A) polymorphism of the GLO I gene is associated with vascular disease in hemodialysis (HD) patients and some RAGE gene polymorphisms are implicated in various pathological states. 20185929

2010

dbSNP: rs4746
rs4746
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.020 GeneticVariation BEFREE Our aim was to study A419C (E111A) single nucleotide polymorphism (SNP) of the glyoxalase I gene in hemodialysis (HD) patients. 18079478

2008

dbSNP: rs4746
rs4746
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.020 GeneticVariation BEFREE Our aim was to study A419C (E111A) single nucleotide polymorphism (SNP) of the glyoxalase I gene in hemodialysis (HD) patients. 18079478

2008

dbSNP: rs4746
rs4746
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy
0.010 GeneticVariation BEFREE Further analyses in cohort I+II indicate that the presence of the TAC/AAT haplotypes (rs1130534-rs4746-rs1049346) may be used as a marker of predisposition to/protection against DRE (p=0.002, q=0.010; p=0.000, q=0.002, respectively). 27000251

2016

dbSNP: rs4746
rs4746
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE Our results demonstrate the link of E111A GLO1 SNP to the presence of the tumor and the connection of RAGE -429T/C and 2184A/G SNPs with the aggressiveness of the tumor. 25407489

2015

dbSNP: rs4746
rs4746
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain
0.010 GeneticVariation BEFREE The present study aimed to investigate the possible association of GLO1 A111E, PON1 Q192R and L55M polymorphisms with the risk of CCMs. 26122242

2015

dbSNP: rs4746
rs4746
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.010 GeneticVariation BEFREE The GLO1 p.E111A variant was associated with RLS in the French-Canadian cohort (odds ratio, OR = 1.38, p = 0.02), and demonstrated a similar trend in the US cohort (OR = 1.26, p = 0.09, combined analysis OR = 1.28, p = 0.009). 26298793

2015

dbSNP: rs4746
rs4746
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which encodes for glyoxalase I, associated with "unaffected sibling" status in families with one or more children affected by Autism Spectrum Disorder (ASD). 25201284

2014

dbSNP: rs4746
rs4746
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
0.010 GeneticVariation BEFREE The aim of our study was to evaluate an association of FN3K (rs1056534, rs3848403) and GLO1 rs4746 polymorphisms with parameters of endothelial dysfunction and soluble receptor for AGEs (sRAGE) in 595 diabetic and non-diabetic subjects. 24908234

2014

dbSNP: rs4746
rs4746
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation BEFREE In a multiple regression analysis with GLO1 activity as the dependent variable, including the Ala111Glu polymorphism, the significant independent variables were log GSSG (ß - 0.318, p = 0.02) and HbA1c (ß 0.285, p = 0.041) in the diabetes group and log GSH, (ß 0.407, p = 0.004) in the control group. 23360186

2013

dbSNP: rs4746
rs4746
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Here, we examine a possible association of a single nucleotide polymorphism of glyoxalase 1 gene (Glo1 A332C, rs4746 or rs2736654) with the prevalence of microvascular diabetic complications in patients with type 1 and type 2 diabetes. 23775136

2013

dbSNP: rs4746
rs4746
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
0.010 GeneticVariation BEFREE Here, we examine a possible association of a single nucleotide polymorphism of glyoxalase 1 gene (Glo1 A332C, rs4746 or rs2736654) with the prevalence of microvascular diabetic complications in patients with type 1 and type 2 diabetes. 23775136

2013

dbSNP: rs4746
rs4746
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Glyoxalase 1 enzyme activity in erythrocytes and Ala111Glu polymorphism in type 1-diabetes patients. 23360186

2013

dbSNP: rs4746
rs4746
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE In a multiple regression analysis with GLO1 activity as the dependent variable, including the Ala111Glu polymorphism, the significant independent variables were log GSSG (ß - 0.318, p = 0.02) and HbA1c (ß 0.285, p = 0.041) in the diabetes group and log GSH, (ß 0.407, p = 0.004) in the control group. 23360186

2013

dbSNP: rs4746
rs4746
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 GeneticVariation BEFREE Effect of advanced glycation end products (AGEs) in the pathogenesis of cancer could be diminished by interaction with soluble RAGE or by reducing AGE-precursors via glyoxalase I. Glu111Ala polymorphism of glyoxalase I gene, AGEs, and sRAGE serum levels were studied in 113 breast cancer patients and in 58 controls. 19452310

2009

dbSNP: rs4746
rs4746
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Effect of advanced glycation end products (AGEs) in the pathogenesis of cancer could be diminished by interaction with soluble RAGE or by reducing AGE-precursors via glyoxalase I. Glu111Ala polymorphism of glyoxalase I gene, AGEs, and sRAGE serum levels were studied in 113 breast cancer patients and in 58 controls. 19452310

2009