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12/12/2005 4:03:54 PM
12/12/2005 3:56:39 PM
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CTNNA3 was first characterised by Janssens et al (Janssens et al 2001 and it is a member of the alpha-catenin family, which is involved in mediating strong cell-cell adhesion. CTNNA3 is expressed in the brain, binds to β-catenin and is a negative regulator of the Wnt signalling cascade (Busby et al 2004

3 novel SNPs from CTNNA3 were genotyped in the 10 LOAD families that were originally used to identify the plasma Aβ42 level QTL (Ertekin-Taner et al 2000 and strong association with plasma Aβ42 levels was observed with 2 of these SNPs (Ertekin-Taner et al 2003 Additional analysis suggested that variation in CTNNA3 accounted for the majority of the plasma Aβ42 linkage signal (Ertekin-Taner et al 2003 However, it is unlikely that CTNNA3 accounts for the linkage signal described by Myers et al 2000 (Busby et al 2004 In a study by our group, 2 SNPs from CTNNA3, including one from the previous study, were individually genotyped in the affected sib pair (ASP) sample used to generate the initial linkage peak (Myers et al 2000 and no association was observed when sharers were compared to controls (Busby et al 2004 Furthermore, in contrast to the work reported by Ertekin-Taner et al (2003), our group observed no association of CTNNA3 SNPs with either Aβ40 or Aβ42 levels, although this was examined in brain samples (Busby et al 2004 Nonetheless, a recent report confirms association of plasma Aβ42 levels with variation in CTNNA3, although observes no association with LOAD (Blomqvist et al 2004

The data as a whole suggests that CTNNA3 variation may regulate plasma Aβ42 levels, but that this does not equate to a role in AD disease susceptibility. Furthermore, that variation in CTNNA3 does not entirely account for the linkage peak of Ertekin-Taner et al 2000 (Ertekin-Taner et al 2003 suggests that another gene in this region also affects plasma Aβ42 levels, and variation in this gene could account for the linkage signal detect by Myers et al (Myers et al 2000

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