ABCMdb

PMID: 17335784

Wang F, Jia J
Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese.
Brain Res. 2007 May 25;1147:34-8. Epub 2007 Feb 8., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCA1 p.Arg219Lys ABCA1 p.Arg219Lys 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. Login to comment 29 ABCA1 p.Arg219Lys ABCA1 p.Arg219Lys Among the examined sites, single nucleotide polymorphisms (SNPs) A→G in the intron 2 of CYP46 gene (rs754203) and G→A (R219K) in the exon 7 of ABCA1 gene (rs2230806) were most promising., We have therefore performed a case-control study to evaluate the association between these two SNPs and sporadic AD in the Chinese Han population. Login to comment 52 ABCA1 p.Arg219Lys Recently, there were a few studies about the R219K polymorphism of ABCA1 gene in AD patients and their results were inconsistent (Table 3). Login to comment 63 ABCA1 p.Arg219Lys The R219K among them predicts a G to A exchange in exon 7 resulting in an arginine to lysine exchange at amino acid 219 which occurs in the first extracellular loop of the ABCA1 protein. Login to comment 73 ABCA1 p.Arg219Lys ABCA1 p.Arg219Lys In conclusion, our study does not support an association between the genetic variability in CYP46 gene and the risk of AD. However, our data revealed that ABCA1 KK genotype and Table 3 - Studies about R219K polymorphism within ABCA1 gene in AD patients Studies Number (cases/controls) Race K allele (%) (cases/controls) Conclusion Wollmer et al., 2003 169/166 Caucasian 29.9/27.7 A delayed age-at-onset Katzov et al., 2004 390/185 Swedish 21.5/27.5 Positive Li et al., 2004 419/377 Caucasian 27.4/27.4 Negative Shibata et al., 2006 218/195 Caucasian 26.0/22.0 Negative 118 AD families Hispanic origin 36.5 A possible interaction between ABCA1 and APOE Sundar et al., 2006 992/699 American whites Total: 29.3/26.9 Positive in female Female: 31.1/24.9 Male: 25.8/30.1 Table 2 - Genotype and allele distributions of R219K polymorphism within ABCA1 gene in AD patients and controls by stratifying for gender or APOE ε4 status Group n Allele (%) Genotype (%) R K RR RK KK Male AD 74 88 (59.5) 60 (40.5) 27 (36.5) 34 (45.9) 13 (17.6) Control 89 94 (52.8) 84 (47.2) 27 (30.3) 40 (44.9) 22 (24.7) χ2 =1.449, P=0.229 χ2 =1.433, P=0.489 Female AD 94 121 (64.4) 67 (35.6) 38 (40.4) 45 (47.9) 11 (11.7) Control 126 129 (51.2) 123 (48.8) 30 (23.8) 69 (54.8) 27 (21.4) χ2 =7.613, P=0.006 χ2 =8.251, P=0.016 ε4 allele carrier AD 42 47 (56.0) 37 (44.0) 12 (28.6) 23 (54.8) 7 (16.7) Control 21 20 (47.6) 22 (52.4) 5 (23.8) 10 (47.6) 6 (28.6) χ2 =0.781, P=0.377 χ2 =1.216, P=0.545 Non-ε4 carrier AD 126 162 (64.3) 90 (35.7) 53 (42.1) 56 (44.4) 17 (13.5) Control 194 203 (52.3) 185 (47.7) 52 (26.8) 99 (51.0) 43 (22.) Login to comment 197 ABCA1 p.Arg219Lys R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. Login to comment 198 ABCA1 p.Arg219Lys R219K polymorphism of the ABCA1 gene and its modulation of the variations in serum high-density lipoprotein cholesterol and triglycerides related to age and adiposity in white versus black young adults. Login to comment