Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2268388
rs2268388
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE A single nucleotide polymorphism (SNP) within the acetyl CoA carboxylase (ACC) β gene (ACACB), rs2268388, has been shown to be associated with susceptibility to development of proteinuria in patients with type 2 diabetes. 29175208

2018

dbSNP: rs2268388
rs2268388
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C>T might act as promotion factors of nephropathy in type 2 diabetes, whereas PPARγ rs1801282 C>G is a promising candidate genetic variation for reducing susceptibility to T2DN. 25262148

2015

dbSNP: rs2268388
rs2268388
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE This study assessed relationships between rs2268388, body mass index (BMI) and gene expression in multiple populations, with and without T2</span>DM. 23460794

2013

dbSNP: rs2268388
rs2268388
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE 1,158 patients with T2DM belonging to two independently ascertained North Indian and one South Indian cohorts were genotyped for ACACβ (rs2268388) and AGTR1 (rs5186) polymorphism using real time PCR-based Taq-man assay and PCR-RFLP assays. 23081748

2013

dbSNP: rs2268388
rs2268388
Diabetes Mellitus, Non-Insulin-Dependent
0.050 GeneticVariation BEFREE A meta-analysis revealed that rs2268388</span> was significantly associated with proteinuria in Japanese patients with type 2 diabetes (p = 5.35 x 10(-8), odds ratio = 1.61, 95% Cl: 1.35-1.91). 20168990

2010

dbSNP: rs2268388
rs2268388
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation BEFREE The ACACB gene rs2268388 polymorphism is associated with nephropathy in Caucasian patients with diabetes: a meta-analysis. 26030797

2015

dbSNP: rs2268388
rs2268388
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation BEFREE Our meta-analysis supports that the ApoE ε2 allele and ACACB rs2268388 C>T might act as promotion factors of nephropathy in type 2 diabetes, whereas PPARγ rs1801282 C>G is a promising candidate genetic variation for reducing susceptibility to T2DN. 25262148

2015

dbSNP: rs2268388
rs2268388
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation BEFREE ACACβ gene (rs2268388) and AGTR1 gene (rs5186) polymorphism and the risk of nephropathy in Asian Indian patients with type 2 diabetes. 23081748

2013

dbSNP: rs2268388
rs2268388
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.040 GeneticVariation BEFREE Among subjects without T2DM, rs2268388 DN risk allele (T) associated with higher BMI in Pima Indian children (n = 2021; p-additive = 0.029) and African Americans (AAs) (n = 177; p-additive = 0.05), with a trend in European Americans (EAs) (n = 512; p-additive = 0.09), but not Germans (n = 858; p-additive = 0.765). 23460794

2013

dbSNP: rs2268388
rs2268388
CUI: C0011847
Disease: Diabetes
Diabetes
0.030 GeneticVariation BEFREE Our pooled data suggest a significant association exists between rs2268388 and diabetic nephropathy among Caucasian patients with diabetes. 26030797

2015

dbSNP: rs2268388
rs2268388
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.030 GeneticVariation BEFREE Our pooled data suggest a significant association exists between rs2268388 and diabetic nephropathy among Caucasian patients with diabetes. 26030797

2015

dbSNP: rs2268388
rs2268388
CUI: C0011847
Disease: Diabetes
Diabetes
0.030 GeneticVariation BEFREE Likewise, T alleles at the rs2268388 locus and C alleles at the rs2239607 locus were associated with diabetes, in the discovery as well as in the replication cohorts, even after women with severe obesity were excluded (OR 3.6 and 2.8, for TT and CC homozygotes, respectively). 21908218

2011

dbSNP: rs2268388
rs2268388
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.030 GeneticVariation BEFREE Likewise, T alleles at the rs2268388 locus and C alleles at the rs2239607 locus were associated with diabetes, in the discovery as well as in the replication cohorts, even after women with severe obesity were excluded (OR 3.6 and 2.8, for TT and CC homozygotes, respectively). 21908218

2011

dbSNP: rs2268388
rs2268388
CUI: C0011847
Disease: Diabetes
Diabetes
0.030 GeneticVariation BEFREE Adjusting for age, gender and diabetes duration, ACACB SNP rs2268388 was significantly associated with advanced T2DN (odds ratio = 2.39; recessive model; P = 0.0129). 20519229

2010

dbSNP: rs2268388
rs2268388
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.030 GeneticVariation BEFREE Adjusting for age, gender and diabetes duration, ACACB SNP rs2268388 was significantly associated with advanced T2DN (odds ratio = 2.39; recessive model; P = 0.0129). 20519229

2010

dbSNP: rs2241220
rs2241220
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.020 GeneticVariation BEFREE Neuropeptide Y (NPY) gene (rs1468271) and ACACB gene (rs2241220) SNPs were significantly associated with severe hypercholesterolemia. 19846279

2009

dbSNP: rs2241220
rs2241220
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.020 GeneticVariation BEFREE Known physiological mechanisms were supported for 3 associations found in patients taking olanzapine, quetiapine or chlorpromazine [acetyl-coenzyme A carboxylase alpha SNP (rs4072032) in the hypertriglyceridemia model, and for the neuropeptide Y (rs1468271) and ACCbeta, (rs2241220) in the hypercholesterolemia model]. 18031993

2008

dbSNP: rs2268388
rs2268388
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.020 GeneticVariation BEFREE Our pooled data suggest a significant association exists between rs2268388 and diabetic nephropathy among Caucasian patients with diabetes. 26030797

2015

dbSNP: rs2268388
rs2268388
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.020 GeneticVariation BEFREE The present study was designed with the aim to examine the association of an ACACβ (rs2268388) and AGTR1 (rs5186) gene polymorphism with the risk of DN in Asian Indians. 23081748

2013

dbSNP: rs2239607
rs2239607
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation BEFREE Likewise, T alleles at the rs2268388 locus and C alleles at the rs2239607 locus were associated with diabetes, in the discovery as well as in the replication cohorts, even after women with severe obesity were excluded (OR 3.6 and 2.8, for TT and CC homozygotes, respectively). 21908218

2011

dbSNP: rs2239607
rs2239607
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation BEFREE Likewise, T alleles at the rs2268388 locus and C alleles at the rs2239607 locus were associated with diabetes, in the discovery as well as in the replication cohorts, even after women with severe obesity were excluded (OR 3.6 and 2.8, for TT and CC homozygotes, respectively). 21908218

2011

dbSNP: rs2239607
rs2239607
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.010 GeneticVariation BEFREE Likewise, T alleles at the rs2268388 locus and C alleles at the rs2239607 locus were associated with diabetes, in the discovery as well as in the replication cohorts, even after women with severe obesity were excluded (OR 3.6 and 2.8, for TT and CC homozygotes, respectively). 21908218

2011

dbSNP: rs2241220
rs2241220
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 GeneticVariation BEFREE Known physiological mechanisms were supported for 3 associations found in patients taking olanzapine, quetiapine or chlorpromazine [acetyl-coenzyme A carboxylase alpha SNP (rs4072032) in the hypertriglyceridemia model, and for the neuropeptide Y (rs1468271) and ACCbeta, (rs2241220) in the hypercholesterolemia model]. 18031993

2008

dbSNP: rs2268388
rs2268388
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid
0.010 GeneticVariation BEFREE T alleles at the rs2268388 locus were overrepresented in women with severe obesity (18% vs. 10% in controls; OR 1.74 [95% confidence interval 1.30-2.47]), which was statistically significant after multiple-test adjustment (p=0.0004). 21908218

2011

dbSNP: rs4766587
rs4766587
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 GeneticVariation BEFREE In conclusion, the ACC2 rs4766587 polymorphism influences MetS risk, which was modulated by dietary fat, suggesting novel gene-nutrient interactions. 20855566

2010