A2M, alpha-2-macroglobulin, 2

N. diseases: 147; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7980288
rs7980288
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs7980288
rs7980288
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C1856170
Disease:
ALZHEIMER DISEASE, SUSCEPTIBILITY TO
C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE The meta-analysis suggests that there is no enough evidence for associations of A2M gene polymorphisms (5 bp I/D, Ile1000Val) with AD risk at present, even after stratification by ethnicity and APOE ε4 with genotypes of polymorphism sites. 24756728 2014
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE Through combination-analysis of the data about the A2M-I/D and the A2M-Ile1000Val variants, the A2M gene was suggested to be associated with Alzheimer's disease. 15931081 2005
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE Allelic frequencies with the I1000V polymorphism in the gene were 7.4 and 6.8% in the control and AD groups, respectively. 10936700 2000
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE In contrast, there was no relationship between the alpha2m Val1000Ile polymorphism and Alzheimer's disease in these families. 10688047 2000
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE To evaluate the genetic factors for AD among a Chinese population in Taiwan, we studied the polymorphisms of six candidate genes of Alzheimer's disease (AD), including the regulatory region of apolipoprotein E (Apo-E, G-186T), the promoter of apolipoprotein E (Apo-E, A-491T), the bleomycin hydrolase gene (BH, A1450G), a mutation of alpha(2)-macroglobulin gene (A2M G2998A), low-density lipoprotein receptor-related protein gene (LRP, C766T), and alpha(1)-antichymotrypsin gene (ACT, -15Ala/Thr) in AD patients and non-affected elder individuals among Taiwanese Chinese. 11099722 2000
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer's disease (N=88), mild cognitive impairment (N=32), subjective cognitive complaints (N=54) and depression/other psychiatric disorders (N=64). 11058789 2000
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE No association between the alpha-2 macroglobulin I1000V polymorphism and Alzheimer's disease. 10203250 1999
dbSNP: rs3832852
rs3832852
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE The result suggested that rs3832852 polymorphisms were not associated with PD in all genetic models. 25495992 2016
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Our data indicate that the rs669 (A/G) polymorphisms in A2M gene are associated with increased risk in PD. 25495992 2016
dbSNP: rs3832852
rs3832852
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE Accumulating studies have evaluated the association of Alpha-2-Macroglobulin gene (A2M) 5 bp insertion/deletion (5 bp I/D, rs3832852) and Ile1000Val (rs669) polymorphisms with Alzheimer's disease (AD) risk, but the results remain inconclusive. 24756728 2014
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0338460
Disease:
Argyrophilic grain disease
0.010 GeneticVariation BEFREE In addition, the present study shows that the valine to isoleucine (Val1000Ile) polymorphism of A2M is linked with AGD (P=0.03). 12175343 2002
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0004936
Disease:
Mental disorders
0.010 GeneticVariation BEFREE In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer's disease (N=88), mild cognitive impairment (N=32), subjective cognitive complaints (N=54) and depression/other psychiatric disorders (N=64). 11058789 2000
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C1270972
Disease:
Mild cognitive disorder
0.010 GeneticVariation BEFREE In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer's disease (N=88), mild cognitive impairment (N=32), subjective cognitive complaints (N=54) and depression/other psychiatric disorders (N=64). 11058789 2000
dbSNP: rs669
rs669
Entrez Id: 2;10219
Gene Symbol: A2M;KLRG1
A2M;KLRG1
CUI: C0233514
Disease:
Abnormal behavior
0.010 GeneticVariation BEFREE In the present study we tested two polymorphisms in the alpha-2 macroglobulin gene, a 5 bp deletion at the 5' splice site of exon 18 and a G/A point mutation (V1000I) in exon 24, in a sample of 118 healthy, non demented controls and 238 consecutively recruited gerontopsychiatric patients, diagnosed as: Alzheimer's disease (N=88), mild cognitive impairment (N=32), subjective cognitive complaints (N=54) and depression/other psychiatric disorders (N=64). 11058789 2000