2008 Barcelona - European Society of Human Genetics
2008 Barcelona - European Society of Human Genetics 2008 Barcelona - European Society of Human Genetics
Molecular and biochemical basis of disease The distribution of genotypes and allele frequencies were compared with the groups. No statistically significant differences were observed in allele distribution comparing NS and healthy groups (P>0,05) . The haplotypes of IL-10 and TGF-beta1 were compared in terms of their expressions and it was shown that the GCC GCC haplotypes of IL-10 had significantly decreased in the NS whereas there were no statisticaly significant differences in the haplotypes of TGF-beta1. The observed genotype counts were not deviated significantly from those expected according to the Hardy Weinberg Equilibrium (P>0,05) except for IL-10 -1082 A/G polymorphism (P=0,048) . We conclude that GCC GCC haplotypes of IL-10 gene polymorphisms (-1082 A/G, -819 T/C, -592 C/A) have been associated with NS in Turkish children . However, further studies with larger samples are needed to address the exact role of IL-10 in childhood NS . P06.204 The C677T/A1298C Genotypes of MTHFR gene and Neural tube Defects In Kazakhs Z. S. Makhmutova, G. S. Svyatova; The Scientific center of obstetric, gynecology and perinatology, Almaty, Kazakhstan. This study determined the frequencies of MTHFR genotypes for 30 NTD cases, 84 their mothers and 150 unrelated healthy Kazakh adults for controls . The frequencies of combined C677T/A1298C genotypes among NTD cases were: CCaa - 6,7%, CCac - 6,7%, CCcc - 6,7%, CTaa - 10%, CTac - 46,7%, CTcc - 10%, TTaa - 10%, TTac - 3,3% . The frequencies of MTHFR genotypes among controls were: CCaa - 27,3%, CCac - 22%, CCcc - 7,3%, CTaa - 29,3%, CTac - 12%, CTcc - 0,7% , TTaa - 1,3% . Thus, the frequencies of CTac, CTcc, TTaa, TTac genotypes were higher than the frequencies of this genotypes in a controls (p
Molecular and biochemical basis of disease vLINCL but also in NCL patients with later onset and a more protracted disease course . P06.208 Linkage analysis in 238 ADHD-families identifies genome-wide significant signals on chromosomes 2q21.1 and 13q12.11 for neuropsychological measures N. N. J. Rommelse 1 , A. Arias-Vásquez 2 , M. E. Altink 3 , C. J. M. Buschgens 3 , E. Fliers 3 , S. V. Faraone 4 , J. K. Buitelaar 3 , J. A. Sergeant 1 , J. Oosterlaan 1 , B. Franke 5 ; 1 Department of Clinical Neuropsychology, VU University, Amsterdam, The Netherlands, 2 Departments of Psychiatry, Human Genetics and Epidemiology & Biostatistics, Radboud University Medical Center, Nijmegen, The Netherlands, 3 Departments of Psychiatry, Radboud University Medical Center, Nijmegen, The Netherlands, 4 Departments of Psychiatry and Neuroscience & Physiology, SUNY Upstate Medical University, New York, NY, United States, 5 Departments of Psychiatry and Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. ADHD linkage studies have not revealed consistent findings, suggesting alternative approaches to find genes involved in this disease. Endophenotypes, defined as heritable, continuously distributed traits that increase the risk for ADHD, may be more suitable for linkage analysis: Endophenotypes seem less genetically complex than clinical disease phenotypes . Moreover, they are often quantitative traits rather than dichotomous entities (like DSM diagnostic categories), hence the more powerful Quantitative Trait Loci (QTL) linkage analysis may be applied . Genome-wide linkage analysis was performed in the Dutch subsample of the International Multi-centre ADHD Genetics (IMAGE) study encompassing 238 DSM-IV combined type ADHD probands and their 112 affected and 195 non-affected siblings . Ten neuropsychological measures (cognitive and motor measures) previously shown to be candidate ADHD endophenotypes were used as quantitative traits . In addition, an overall component score of neuropsychological functioning was used, on which all ten individual measures related . A total number of 5,407 autosomal SNPs were used to run a multipoint regression-based linkage analysis. Two genome-wide significant linkage peaks were found, one for Motor Timing on chromosome 2q21 .1 (LOD score: 3 .944) and one for Digit Span on 13q12 .11 (LOD score: 3.959). Eleven suggestive linkage peaks were found (LOD scores ≥ 2) on chromosomes 2p, 2q, 3p, 4q, 8q, 9p, 12p, 12q, 14q, 17q . The suggestive linkage signal of the component score at 2q14 .3 (LOD score: 2 .878) overlapped with the region linking to Motor Timing . In conclusion, our results suggest that neuropsychological candidate ADHD-endophenotypes may aid in the discovery of novel ADHD genes through linkage analysis P06.209 NFAtc4 gene polymorphism and aerobic performance in athletes D. V. Popov 1 , I. I. Ahmetov 2 , J. V. Shikhova 2 , S. S. Missina 1 , O. L. Vinogradova 1 , V. A. Rogozkin 2 ; 1 SRC Institute for Biomedical Problems of the Russian Acad. Sci., Moscow, Russian Federation, 2 St Petersburg Research Institute of Physical Culture, St Petersburg, Russian Federation. Nuclear factor of activated T cells C4 gene (NFATC4) encodes transcription factor which regulates cardiac and skeletal muscle metabolism . The aim of the study was to investigate allelic distribution of NFATC4 gene Gly160Ala polymorphism in endurance-oriented athletes (n=549) and controls (n=1057), and to find interrelation between genotypes and physiological parameters in rowers (n=90) . Genotyping was performed by restriction fragment length polymorphism analysis . Physiological parameters were evaluated by PM 3 Rower Ergometer and MetaMax 3B Gas Analyzer. The frequency of NFATC4 Gly allele was significantly higher in athletes than in controls (51 .5% vs . 43 .7%; p
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Molecular and biochemical basis <strong>of</strong> disease<br />
The distribution <strong>of</strong> genotypes and allele frequencies were compared<br />
with the groups. No statistically significant differences were observed<br />
in allele distribution comparing NS and healthy groups (P>0,05) . The<br />
haplotypes <strong>of</strong> IL-10 and TGF-beta1 were compared in terms <strong>of</strong> their<br />
expressions and it was shown that the GCC GCC haplotypes <strong>of</strong> IL-10<br />
had significantly decreased in the NS whereas there were no statisticaly<br />
significant differences in the haplotypes <strong>of</strong> TGF-beta1. The observed<br />
genotype counts were not deviated significantly from those expected<br />
according to the Hardy Weinberg Equilibrium (P>0,05) except<br />
for IL-10 -1082 A/G polymorphism (P=0,048) .<br />
We conclude that GCC GCC haplotypes <strong>of</strong> IL-10 gene polymorphisms<br />
(-1082 A/G, -819 T/C, -592 C/A) have been associated with NS in Turkish<br />
children . However, further studies with larger samples are needed<br />
to address the exact role <strong>of</strong> IL-10 in childhood NS .<br />
P06.204<br />
The C677T/A1298C Genotypes <strong>of</strong> MTHFR gene and Neural tube<br />
Defects In Kazakhs<br />
Z. S. Makhmutova, G. S. Svyatova;<br />
The Scientific center <strong>of</strong> obstetric, gynecology and perinatology, Almaty, Kazakhstan.<br />
This study determined the frequencies <strong>of</strong> MTHFR genotypes for 30<br />
NTD cases, 84 their mothers and 150 unrelated healthy Kazakh adults<br />
for controls . The frequencies <strong>of</strong> combined C677T/A1298C genotypes<br />
among NTD cases were: CCaa - 6,7%, CCac - 6,7%, CCcc - 6,7%,<br />
CTaa - 10%, CTac - 46,7%, CTcc - 10%, TTaa - 10%, TTac - 3,3% .<br />
The frequencies <strong>of</strong> MTHFR genotypes among controls were: CCaa<br />
- 27,3%, CCac - 22%, CCcc - 7,3%, CTaa - 29,3%, CTac - 12%, CTcc<br />
- 0,7% , TTaa - 1,3% . Thus, the frequencies <strong>of</strong> CTac, CTcc, TTaa, TTac<br />
genotypes were higher than the frequencies <strong>of</strong> this genotypes in a<br />
controls (p
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