European Human Genetics Conference 2007 June 16 – 19, 2007 ...

Normal variation, population genetics, genetic epidemiology
ção e Colonização do Estado de São Paulo” in the early 70´s of the
last century. From the collected data, information on gender, familial
relationship, housing conditions, age and serological diagnostics were
used. Statistical analyses were performed using some lab made programs,
as well as SPSS and POINTER programs. Multiple regression
analyses showed that gender have no influence on T. cruzi infection,
while age and housing conditions presented significant effects. Correlation
of related pairs of individuals, showed consistent positive and
significant values, indicating familial aggregation. Complex segregation
analysis, suggested that the best model is the dominant one, but
the environmental influence cannot be excluded. The current study
provides evidence of a major gene for T. cruzi infection, suggesting
that it is an appropriate trait for further genetic analysis on the causal
factors acting on the variability of Chagas disease.
Model d t q H τ1 τ2 τ3 -2 ln L χ 2 P test ep AIC
1.Mixed* 1.000 2.096 0.605 0.421 [1] [0.5] [0] 672.40 - - - 4 680.397
2.Sporadic [0] [0] [0] [0] - - - 838.63 166.238 0.000 2vs1 0 838.635
3.No major effect** [0] [0] [0] 0.995 [1] [0.5] [0] 696.37 23.974 0.000 3vs1 1 698.372
4.No multifatorial 0.097 3.250 0.296 [0] [1] [0.5] [0] 712.27 39.869 0.000 4vs1 3 718.266
5.Recessive (d=0) [0] 2.389 0.383 0.279 [1] [0.5] [0] 682.78 10.381 0.001 5vs1 3 688.778
6.Aditive (d=0.5) [0.5] 2.782 0.454 0.019 [1] [0.5] [0] 674.09 1.688 0.194 6vs1 3 680.085
7.Dominant (d=1) [1] 2.096 0.605 0.421 [1] [0.5] [0] 672.40 0.000 1.000 7vs1 3 678.397
* „d“ value was set to upper limit. **Model estimated by lower „-2 ln L“.
Supported by CNPq, FAPESP.
P1161. Genetic-epidemiology study of reported number of
malaria episodes in a sample from Monte Negro, RO, Brazil.
A. La Luna1 , R. G. M. Ferreira1 , C. E. M. Kawamata1 , M. M. Moura2 , L. M. A.
Camargo1 , H. Krieger1 ;
1 2 Instituto de Ciências Biomédicas, São Paulo, Brazil, Universidade Federal de
Rondonia, Porto Velho, Brazil.
Malaria is one of the main human infectious disease that affects 300
to 500 million people per year, causing the death of 1.5 to 2.7 million
people in Africa, Asia and the Americas. In Brazil around 70% of the
cases are due to Plasmodium vivax infection. The reported number
of malaria episodes was studied on a sample of 924 individuals from
Monte Negro/RO, Brazil (malaria hypo-endemic region) in order to test
previous reports on a riverine population from the Western Amazonian
Region (Portuchuelo, RO). The effects of gender, inbreeding, age were
evaluated before a correlation study of pairs of relative was conducted.
All estimates were relatively high and statistically significant showing
a significant familial aggregation. It could be observed that the greatest
number of malaria episodes occurs in male individuals with more
than 45 years of age, probably due to a longer exposition to the causal
agent. Complex segregation analysis was applied to the data, and although
the free τs model showed the best fit, with somewhat non-mendelian
τs values, the action of a heritable multifactorial component has
to be present in order to explain the familial aggregation. The results
are the same whether Duffy negative individuals are excluded from the
sample or not. Further linkage studies are being conducted in order to
identify probable genetic mechanisms associated to this treat.
Model D t q H τ 1 τ 2 τ 3 -2 ln L χ 2 P test AIC
1.Mixed 1.000 1.513 0.230 0.065 [1] [0.5] [0] 1179.38 1187.380
3.No major effect [0] [0] [0] 0.435 [1] [0.5] [0] 1229.74 50.360 0.000 3 vs. 1 1231.740
4.No multifactorial 0.092 1.510 0.623 [0] [1] [0.5] [0] 1201.29 21.910 0.000 4 vs. 1 1207.290
5.Recessive (d=0) [0] 3.065 0.211 0.259 [1] [0.5] [0] 1170.99 8.390 0.004 5 vs.1 1176.990
7. Dominant (d=1) [1] 1.515 0.230 0.065 [1] [0.5] [0] 1179.48 0.100 0.752 7 vs. 1 1185.480
8.Free τs 1.000 1.332 0.301 0.447 1.000 1.000 0.000 962.30 208.690 0.000 8 vs 5 976.300
Supported by CNPq, FAPESP
P1162. Uncovering German genetic landscapes of Ychromosome
A. N. Diaz Lacava;
Institute for Medical Biometry, Informatics, and Epidemiology, University of
Bonn, Bonn, Germany.
Widespread population data on Y-chromosomal short tandem repeats
(STR) haplotypes are public available. World-wide as well as
continent-wide studies of Y-STR haplotypes confirm its applicability to
quantification of population genetic differentiation.
2 2
Europe evidences Y-chromosomal diversity in form of clines, primarily
influenced by geography (Rosser et al., 2000). While genetic differentiation
has been accounted between major European populations
(Ploski et al., 2002), along present-day political borders (Kayser et al.,
2005) or even between micro-geographic regions (Brion et al., 2004),
Germany is regarded as quite homogeneous. Small but statistically
significant differences were detected between Eastern and Western
Germany (Kayser, 2005).
German genetic landscapes of Y-chromosome are assessed. A genetic
geographical Information system (GenGIS) was built. Y-chromosomal
geographical patterns were portrayed examining 7 STR (3070
samples, recruited along 12 German locations; http://www.yhrd.org).
Following the stepwise mutation model (SMM), thus taking haplotype
molecular distance into account, haplotype groups were defined. First,
most frequent haplotypes were identified, and then nearest neighbours,
in terms of mutation steps, were clustered. Genetic landscapes
were built based on spatial interpolation of haplotype and haplotypegroup
frequencies with GRASS GIS. Regional patterns are analyzed.
The relatively genetic homogeneity attributed to German population
may be interpreted as a product of superimposed genetic landscapes.
GenGIS assessment of genetic landscapes provides an insight into
the spatial composition of extant, highly admixed German population.
References
Brion et al., Gene. 2004;329:17-25.
Kayser et al., Hum Genet. 2005;117(5):428-43.
Ploski et al. Hum Genet. 2002;110(6):592-600.
Rosser et al., Am J Hum Genet. 2000;67(6):1526-43.
P1163. Genetic polymorphism of Y chromosome short tandems
repeats (Y-STRs) in the Latvian population
L. Pliss 1 , A. Puzuka 2 , L. Timsa 1 , I. Pelnena 1 , V. Baumanis 1 , A. Krumina 2 ;
1 Latvian Biomedical Research and Study Centre, Riga, Latvia, 2 Riga Stradins
University, Department of Medical Biology and Genetics, Riga, Latvia.
Biallelic loci and short tandem repeats (STRs) positioned in the nonrecombining
part of Y chromosome and paternal inheritance make it a
powerful tool for studying population genetics and evolution.
The aim of the present study was to evaluate Y-STRs variation in two
haplogroups, I and R1a1 that form 46.6% from the total Latvian sample.
A sample of 74 paternally unrelated Latvians belonging to haplogroups
(hgs) I and R1a1 were analyzed at 12 Y-STR loci. One trinucleotide
STR (DYS392) and 11 tetranucleotide STRs (DYS19, DYS385a,
DYS385b, DYS389I, DYS389II, DYS390, DYS391, DYS393, DYS437,
DYS438, and DYS439) were determined using PowerPlex ® Y System
(Promega, USA). Haplotype diversity was calculated using the Arlequin
2.0 package.
Y-STR analyses of Latvian hg I lineages revealed 12 different haplotypes
(haplotype diversity: 0.957±0.016), 14-13-14-12-28-22-10-11-
13-16-10-11 (defined by DYS19-385a-385b-389I-389II-390-391-392-
393-437-438-439) of which occurred more frequently (25%). Among
hg I Y-STRs two microsatellites were less diverse and only one allele
for each of them was found (DYS392 locus-11 repeats, DYS438-10 repeats).
In contrast to hg I, the haplotype diversity of haplogroup R1a1
was 0.986±0.003, where 51 distinct haplotypes were detected and six
of them were found in more than one individual, comprising 11.8% of
hg R1a1 Y chromosomes in Latvian males. We have detected two predominant
alleles at DYS392 and DYS 393 loci (11 and 12) that make
up 94% of the total microsatellite variation in the Latvian population.
The analysis of associated Y-STRs revealed differences between microsatellite
diversity within two distinct phylogenetic branches, haplogroups
R1a1 and I, in the Latvian population.
P1164. The association of gene variants with physical
performance in middle school-age children
I. V. Astratenkova, I. I. Ahmetov, D. N. Gavrilov, A. M. Druzhevskaya, A. V.
Malinin, E. E. Romanova, V. A. Rogozkin;
St Petersburg Research Institute of Physical Culture, St Petersburg, Russian
Federation.
The aim of the study was to determine the association between ACE
I/D, ACTN3 R577X and PPARA intron 7 G/C gene variants and anthropometrical
and performance-related traits in 457 middle school-age
children. The assessment of physical performance and anthropometry
was conducted with a number of physical and physiological tests.