ABCMdb

PMID: 20590502

Stankovic S, Majkic-Singh N
Genetic aspects of ischemic stroke: coagulation, homocysteine, and lipoprotein metabolism as potential risk factors.
Crit Rev Clin Lab Sci. 2010 Mar-Apr;47(2):72-123., [PubMed]

Sentences

No. Mutations Sentence Comment

382 ABCA1 p.Arg219Lys (135, 434-436) Two publications assessed the distribution of different polymorphisms (L158L, R219K, G316G, R1587K) and haplotype arrangements of the ABCA I gene in IS patients. Login to comment 383 ABCA1 p.Arg219Lys ABCA1 p.Val771Met A study of 244 Hungarian patients suggested a protective role for the ABCA I -R219K and V771M polymorphisms against IS. Login to comment 401 ABCA1 p.Val771Met Authors (reference) Year Polymorphism Methodology Phenotype OR 95% ci Andrikovics et al. (434) 2006 R219K V771M Case-control: 244 cases IS Yamada et al. (135) 2006 Arg219Lys (Ile823Met Case-control: 636 cases, 2010 controls IS (atherothrombotic) N.S. N.S. Pasdar et al. (435) 2007 L158L R219K G316G R1587K Case-control: 400 cases, 487controls IS N.S. N.S. N.S. N.S. Yamada et al. (436) 2008 -14C/T (rs1800977) Case-control: 822 cases, 2070 controls IS (atherothrombotic) Dominant-Recessive 1.21 1.75 1.00-1.45 1.22-2.48 Guan et al.,(448) and Xu et al., (450) which reported a relationship with atherosclerotic stroke, and in the prospective cohort study of Morrison et al.,(341) who described a positive association between S447X and asymptomatic stroke lesions, and in that of Kostulas et al.,(449) in which the protective role of the G-allele of LPL S447X polymorphism had a lower frequency in males. Login to comment