PMID: 23111454

Wang XF, Cao YW, Feng ZZ, Fu D, Ma YS, Zhang F, Jiang XX, Shao YC
Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease.
Mol Biol Rep. 2013 Feb;40(2):779-85. doi: 10.1007/s11033-012-2115-9. Epub 2012 Oct 31., [PubMed]
Sentences
No. Mutations Sentence Comment
86 ABCA1 p.Lys1587Arg
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ABCA1 p.Lys1587Arg 23111454:86:59
status: NEW
view ABCA1 p.Lys1587Arg details
 The two conservative, non-synonymous coding polymorphisms (K1587R and R219 K) had been extensively investigated because of their potentially, functionally Table 2 Meta-analysis of the ABCA1 polymorphisms on Alzheimer`s disease risk Polymorphism Overall association Sub-group analysis by ethnicity Sub-group analysis by sample size Caucasian Asian C300 \300 R219 K OR(95 % CI) P(Q) OR(95 % CI) P(Q) OR(95 % CI) P(Q) OR(95 % CI) P(Q) OR(95 % CI) P(Q) K allele 1.01 (0.93-1.10) P = 0.05 1.04 (0.96-1.14) P = 0.18 0.86 (0.62-1.18) P = 0.06 1.03 (0.91-1.17) P = 0.05 0.98 (0.85-1.14) P = 0.10 Dominant 1.05 (0.94-1.16) P = 0.14 1.08 (0.98-1.17) P = 0.40 0.86 (0.55-1.35) P = 0.07 1.08 (0.95-1.23) P = 0.19 0.99 (0.83-1.19) P = 0.17 Recessive 0.93 (0.78-1.10) P = 0.22 0.98 (0.81-1.18) P = 0.25 0.74 (0.51-1.07) P = 0.34 0.92 (0.70-1.20) P = 0.09 0.92 (0.72-1.18) P = 0.41 I883 M M allele 1.10 (0.96-1.26) P = 0.36 1.13 (0.97-1.31) P = 0.32 0.95 (0.65-1.39) NA 1.18 (0.90-1.55) P = 0.09 1.07 (0.88-1.30) P = 0.81 Dominant 1.13 (0.95-1.33) P = 0.34 1.14 (0.96-1.36) P = 0.28 0.85 (0.36-1.99) NA 1.19 (0.87-1.64) P = 0.06 1.11 (0.86-1.44) P = 0.90 Recessive 1.13 (0.80-1.58) P = 0.70 1.29 (0.81-2.04) P = 0.68 0.97 (0.59-1.59) NA 1.42 (0.75-2.67) P = 0.55 1.03 (0.69-1.54) P = 0.60 R1587 K K allele 1.08 (0.96-1.23) P = 0.06 1.05 (0.92-1.20) P = 0.09 1.31 (0.98-1.74) P = 0.23 1.01 (0.88-1.16) P = 0.17 1.23 (1.02-1.50) P = 0.19 Dominant 1.11 (0.93-1.33) P = 0.01 1.08 (0.89-1.32) P = 0.008 1.32 (0.91-1.92) P = 0.36 1.01 (0.80-1.27) P = 0.02 1.28 (0.97-1.68) P = 0.14 Recessive 1.15 (0.93-1.43) P = 0.44 1.04 (0.81-1.33) P = 0.73 1.64 (0.91-2.94) P = 0.19 1.00 (0.76-1.32) P = 0.44 1.43 (1.01-2.03) P = 0.61 NA not available Fig. 3 Forest plot from the meta-analysis of Alzheimer`s disease risk and ABCA1 R1587 K polymorphism important location in the gene. Login to comment 87 ABCA1 p.Lys1587Arg
X
ABCA1 p.Lys1587Arg 23111454:87:106
status: NEW
view ABCA1 p.Lys1587Arg details
 R219 K is in an N-terminal extracellular loop which possibly mediates ABCA1 interaction with ApoAI; while K1587R is located in the regulatory segment 2 of the protein [27, 28]. Login to comment