rs2230806, ABCA1

N. diseases: 24
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE After correcting p values for multiple testing, only the effects of the rs2230805 and rs2230806 polymorphisms remained significant in the recessive model suggesting a modest protective effect of their minor alleles in AD, which should be interpreted with considerable caution, until further studies elucidate their role in AD pathology. 29133174 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE CONCLUSIONS ABCA1 R219K R allele was the risk factor inducing abnormal serum levels of ApoA2, LDL, and TG in AD patients, and abnormal levels of serum ABCA1, HDL, IL-1b, IL-6, and TNF-α in PD patients, while ABCA1 R219K K allele was the risk factor inducing lower ABCA1 in AD patients. 28943632 2017
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE The relationship between ABCA1 common variations (R219 K rs2230806, I883 M rs4149313 and R1587 K rs2230808) and AD has been reported in various ethnic groups; however, these studies have yielded contradictory results. 23111454 2013
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE In summary, there was no significant association detected between ABCA1 R219K, I883M and R1587K polymorphisms and risk for AD. 22982414 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE The results indicated that the RK genotype or K allele (RK + KK) of R219K may relate to the development of AD in the east of China. 22377775 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE The purpose of this case-control study was to determine whether single nucleotide polymorphisms (SNPs) A-->G in the intron 2 of CYP46 gene and G-->A (R219K) in the exon 7 of ABCA1 gene are associated with sporadic AD in the Chinese Han population. 17335784 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE We show an apparent weak association of rs2230806 (p-value=0.01) with the disease in a sibpair series of Alzheimer's disease that had shown previously evidence for linkage to the chromosome 9 locus where ABCA1 maps. 17324514 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE To evaluate the relationship between ABCA1 genetic variants and Alzheimer's disease (AD), independently or in concert with the APOE epsilon4 allele, we examined three ABCA1 polymorphisms located in the coding region (R219K, I883M, and R1587K) and two ABCA1 polymorphisms in the promoter region (C-14T and C-477T) in a group of 372 Spanish AD patients and 440 controls. 17510946 2007
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.090 GeneticVariation BEFREE Since altered cholesterol metabolism is also involved in Alzheimer's disease (AD), the effects of two ABCA1 polymorphisms (G-395C promoter polymorphism (rs 2246293) and exonic R219K) on the risk of AD in 241 AD patients and 294 non-demented controls, and on CSF cholesterol and 24S-hydroxycholesterol in 74 AD patients and 42 non-demented controls were investigated. 16596262 2006