2009 Vienna - European Society of Human Genetics

Complex traits and polygenic disorders
ing cause of monogenic obesity in humans. Common variants at this
locus are associated with body mass index in the general human population.
We hypothesized that common variants in the canine mc4r are
associated with canine body mass. A cohort of 195 Golden Retriever
dogs was used to investigate this hypothesis. The familial relationships,
weight, length and height of these dogs were available. From
these variables, we calculated a body index score as weight / (length
* height). The estimated heritability was 0.35 (s.e. 0.25) for weight,
0.15 (s.e. 0.21) for length, 0.32 (s.e. 0.26) for height, and 0.16 (s.e.
0.26) for body index score. We sequenced mc4r in 23 unrelated dogs
from the cohort and detected four common polymorphisms: c.637G>T,
c.777T>C, c.868C>T, and c.*33C>G. Two of these were predicted to
be deleterious by an in silico analysis using Polyphen. These polymorphisms
were subsequently genotyped in the complete cohort. Association
results of mc4r genotypes and haplotypes will be presented for
the four phenotypes weight, length, height, and body index score. We
will also discuss our findings in the light of species-differences in the
regulation of energy balance.
P09.024
Novel extreme homozygote haplotypes at the human caveolin 1
gene upstream purine complex in sporadic Alzheimer’s disease
M. Zarif Yeganeh 1 , A. Mirabzadeh 2 , H. Khorram Khorshid 1 , K. Kamali 3 , Y. Heshmati
1 , E. Gozalpour 1 , K. Veissy 1 , M. Olaad Nabi 1 , H. Najmabadi 1 , M. Ohadi 1 ;
1 Genetic Reseach Center , University of Social Welfare Sciences and Rehabilitation,
Tehran, Islamic Republic of Iran, 2 Razi Hospital, Tehran, Islamic Republic
of Iran, 3 Department of Epidemiology and Biostatistics, School of Public
HealthTehran university, tehran, Islamic Republic of Iran.
Aberrant expression of the caveolin-1 (CAV1) gene is associated with
Alzheimer’s disease (AD) brain. We report a novel polymorphic purine
stretch of GGAA and GAAA motifs located at between 1.8 kb and 1.5
kb flanking the CAV1 gene, whose alleles and genotypes are associated
with late-onset AD. Over one hundred haplotypes were detected
in the cases and controls as a result of the three polymorphic motifs.
Extreme haplotypes were observed in the patients (n=240) that
were non-existent in the controls (n=250)(p