ABCMdb

PMID: 21283083

Dwyer S, Williams H, Jones I, Jones L, Walters J, Craddock N, Owen MJ, O'Donovan MC
Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder.
Mol Psychiatry. 2011 Aug;16(8):790-1. doi: 10.1038/mp.2011.2. Epub 2011 Feb 1., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCA13 p.Arg4843Cys Of the six variants examined, only R4843C was significantly more common in a case sample than control (bipolars vs controls; P = 0.03; bipolar plus schizophrenia P = 0.04; 1-tailed), although these would not remain significant after correction for multiple testing (Table 1). Login to comment 22 ABCA13 p.His3609Pro ABCA13 p.Thr4550Ala One bipolar and one control were compound heterozygotes for H3609P and T4550A. Login to comment 23 ABCA13 p.His3609Pro ABCA13 p.Thr4550Ala ABCA13 p.Arg4590Trp ABCA13 p.Arg4590Trp One schizophrenia case carried H3609P and R4590W and one control carried both R4590W and T4550A. Login to comment 24 ABCA13 p.Thr4550Ala ABCA13 p.Thr4031Ala Two bipolar cases and two controls were heterozygous for T4031A and T4550A. Login to comment 44 ABCA13 p.Arg4590Trp Supplementary Information accompanies the paper on the Molecular Psychiatry website (http://www.nature.com/mp) Table 1 Individual P values (Fishers exact test, 1-tailed) and OR for the minor allele Representations SZ BP Combined SZ and BP Variants Cases Controls P value OR P value OR P value OR H3609P* 5/825 SZ 48/4503 0.87 0.57 0.88 0.66 0.94 0.63 12/1710 BP R4278X 3/826 SZ 16/4498 0.50 1.02 0.24 1.37 0.34 1.24 7/1440 BP R4590W 6/826 SZ 41/4505 0.58 0.80 0.82 0.71 0.83 0.74 11/1711 BP R4843Cw 5/826 SZ 22/4502 0.30 1.24 0.03 1.92 0.04 1.70 16/1711 BP T4031A* 0/826 SZ 5/4503 0.50 0 0.5 1.05 0.50 0.71 2/1709 BP T4550A* 11/823 SZ 38/4493 0.08 1.58 0.38 1.11 0.18 1.26 16/1709 BP Global analysis 0.58 0.96 0.48 1.01 0.53 0.99 Abbreviations: BP, bipolar; OR, odds ratio; SZ, Schizophrenia. Login to comment