ABCMdb

PMID: 17324514

Wavrant-De Vrieze F, Compton D, Womick M, Arepalli S, Adighibe O, Li L, Perez-Tur J, Hardy J
ABCA1 polymorphisms and Alzheimer's disease.
Neurosci Lett. 2007 Apr 12;416(2):180-3. Epub 2007 Feb 7., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCA1 p.Arg219Lys ABCA1 p.Val771Met doi:10.1016/j.neulet.2007.02.010 The SNPs used were rs2230806 (also designated as rs2234884) which encodes variant R219K (c.969A > G, numbering according to GenBank reference NM 005502) with a reported ~25% minor allele frequency in Caucasian populations [5,7], rs2066718 which is a V771M (c.2624A > G) variant with a reported ~3% minor allele frequency [5,7], rs2230808 which encodes a R1587K (c.5073A > G) variant with a reported 26% minor allele frequency [5,7] and finally rs2422493 which is a 5 UTR polymorphism located at -477 in the promoter with a reported 46% minor allele frequency [23,25]. Login to comment 41 ABCA1 p.Arg219Lys ABCA1 p.Arg219Lys ABCA1 p.Val771Met ABCA1 p.Val771Met These previous findings emphasize the Table 1 Genotype frequency of ABCA1 polymorphisms in USA sibpair series SNP ID (function) Total (Nf = 331) ApoE-␧4- (Nf = 76) ApoE-␧4+ (Nf = 227) Fam Freq p-Value Fam Freq p-Value Fam Freq p-Value rs2422493 (promoter) C/C 45 0.266 0.62 5 0.245 N/A 25 0.284 0.62 T/C 79 0.494 0.17 14 0.494 0.29 38 0.489 0.35 T/T 44 0.241 0.02* 10 0.261 0.30 21 0.227 0.08 rs2230806 (R219K) A/A 17 0.095 0.93 2 0.058 N/A 10 0.111 0.86 A/G 66 0.399 0.23 12 0.483 0.01* 31 0.388 0.70 G/G 56 0.507 0.21 11 0.459 0.02* 25 0.500 0.59 rs2066718 (V771M) A/A 0 0 N/A 0 0 N/A 0 0 N/A A/G 14 0.100 0.69 2 0.162 N/A 6 0.102 N/A G/G 14 0.900 0.69 2 0.838 N/A 6 0.898 N/A rs2230808 (R1587K) A/A 15 0.066 0.06 5 0.044 N/A 8 0.064 N/A A/G 62 0.426 0.69 14 0.505 0.64 32 0.420 0.90 G/G 56 0.509 0.55 13 0.451 0.57 29 0.515 0.67 Fam, number of informative families; Freq, frequency; Nf, number of nuclear families; N/A, non-applicable. Login to comment