ABCMdb

PMID: 23181436

Xiao Z, Wang J, Chen W, Wang P, Zeng H, Chen W
Association studies of several cholesterol-related genes (ABCA1, CETP and LIPC) with serum lipids and risk of Alzheimer's disease.
Lipids Health Dis. 2012 Nov 26;11:163. doi: 10.1186/1476-511X-11-163., [PubMed]

Sentences

No. Mutations Sentence Comment

35 ABCA1 p.Arg219Lys One of the most studied ABCA1 variants is R219K (rs2230806) in exon region. Login to comment 36 ABCA1 p.Arg219Lys Previous researches indicated the common R219K variant was associated with CSF cholesterol levels [38]. Login to comment 74 ABCA1 p.Arg219Lys The ABCA1 R219K polymorphism was investigated by using the following primers: 5'-GTA TTT TTG CAA GGC TAC CAG TTA CAT TTG ACAA-3'(forward) and 5'-GAT TGG CTT CAG GAT GTCC-3'(reverse), according to previous literure [65]. Login to comment 114 ABCA1 p.Arg219Lys For ABCA1 R219K polymorphism, there were significantly higher levels of HDL-C and apoA-I in the carriers of KK genotype and K allele (P < 0.05). Login to comment 126 ABCA1 p.Arg219Lys There existed evident combined genotype effect of the ABCA1 R219K and the LIPC-250 G/A polymorphisms on HDL-C levels in total subjects: the carriers of the KK/AA genotype showed the highest levels of HDL-C (2.07 +/- 0.11 mmol/L), whereas those carrying the RR/GG genotype showed the lowest (1.07+/- 0.22 mmol/L) (Table 4). Login to comment 162 ABCA1 p.Arg219Lys performed in 281 AD patients indicated that serum TC and LDL levels were clearly positively correlated with densities of neuritic plaques in both neocortex and hippocampal Table 4 Combination of ABCA1 R219K and LIPC -250 G/A variants and serum HDL-C levels(mmol/L) LIPC-250 G/A genotypes GG GA AA ABCA1 R219 K genotypes RR 1.07&#b1;0.22 1.33&#b1;0.82 1.19&#b1;0.26 RK 1.40&#b1;0.26 1.36&#b1;0.24 1.52&#b1;0.19 KK 2.02&#b1;0.66 1.70&#b1;0.40 2.07&#b1;0.11 F = 3.930 P = 0.004 Table 5 Logistic regression analysis:risk factors for AD Variable B P OR 95%CI age 0.963 0.003 2.620 1.381-4.972 education -1.052 0.004 0.349 0.172-0.710 219K allele -0.903 0.005 0.405 0.217-0.758 -250A allele -0.905 0.018 0.405 0.191-0.858 regions [77]. Login to comment 164 ABCA1 p.Arg219Lys In this pilot study we determined an apparent association between the polymorphism of ABCA1 R219K and AD. Login to comment 169 ABCA1 p.Arg219Lys The minor allele frequency of R219K was reported 25% in Caucasian populations [79], 46% in Europeans [65]. Login to comment 181 ABCA1 p.Arg219Lys Many conflicting results from previous studies have evaluated the associations of R219K polymorphism with level of HDL-C and risk of developing CAD [82,84,85]. Login to comment 183 ABCA1 p.Arg219Lys In this pilot study, we first reported the association of R219K gene variants with lipids in AD patients, suggesting the possible involvement of cholesterol with AD. Login to comment 188 ABCA1 p.Arg219Lys However, other studies failed to find any significant influence of R219K variation on HDL-C or other lipid parameters levels [85,89-91]. Login to comment 220 ABCA1 p.Arg219Lys We found a significant interaction of ABCA1 R219K and LIPC-250 G/A polymorphisms on HDL-C levels in the total subjects (F = 3.930, P = 0.004). Login to comment 267 ABCA1 p.Arg219Lys Conclusion In summary, for the first time we reported a significant association of the ABCA1 R219K and LIPC-250A polymorphisms with sporadic AD risk and cognitive and memorial scores in Southern Chinese Han population, but no pronounced effect in CETP TaqIB SNP. Login to comment 514 ABCA1 p.Arg219Lys Ma XY, Liu JP, Song ZY: Associations of the ATP-binding cassette transporter A1 R219K polymorphism with HDL-C level and coronary artery disease risk: a meta-analysis. Login to comment 549 ABCA1 p.Arg219Lys Zhao SP, Xiao ZJ, Li QZ, et al: Relationship between ATP-binding cassette transporter 1 R219K genetic variation and blood lipids. Login to comment 560 ABCA1 p.Arg219Lys Huang Y, Wu Y, Liu R, et al: Differential effect of ATP binding cassette transporter A1 R219K and cholesteryl ester transfer protein TaqIB genotypes on HDL-C levels in overweight/obese and non-obese Chinese subjects. Login to comment 566 ABCA1 p.Arg219Lys Li J, Wang LF, Li ZQ, et al: Effect of R219K polymorphism of the ABCA1 gene on the lipid-lowering effect of pravastatin in Chinese patients with coronary heart disease. Login to comment