2009 Vienna - European Society of Human Genetics

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Complex traits and polygenic disorders Ageing, London, United Kingdom. Since psychobiological model of personality was proposed by Cloninger, interest of scientific groups has been focused on neurotransmitter system genes. We aimed to define a single genotype effect of NET 1287A/G, ADRA2A -1291C/G and COMT Val158Met polymorphisms and to check possible epistatic effect between them and personality traits (assessed with the EPI and TCI questionnaires). We recruited 652 healthy individuals (men-222, women-430) of Caucasian origin (Russians-233, Tatars-419) from Russia (mean age: 19.53±2.24 years). Genotyping of 3 polymorphisms was performed using PCR-RFLP. The main, interaction and modified effects of gene polymorphisms, gender and ethnicity on personality traits were detected under multiple regression (MR) analyses (SPSS 13.0). While conducting MR analyses, the main effect of ethnicity (P
Complex traits and polygenic disorders (CG), 66+/-19 kg (GG); P=0.004. This decrease in body-weight in Gallele carriers was observed in both men and women. P09.092 serotonergic polymorphisms in childhood onset Obsessive compulsive Disorder Z. Nemoda 1 , E. Kenezloi 2 , Z. Tarnok 2 , J. Gadoros 2 , M. Sasvari-Szekely 1 ; 1 Institute of Medical Chemistry, Molecular Biology and Pathobiochemistry, Budapest, Hungary, 2 Vadaskert Child and Adolescent Psychiatric Clinic, Budapest, Hungary. Childhood onset Obsessive Compulsive Disorder (OCD) has substantial genetic background. The symptoms are likely to evolve as a result of interactions of adverse environmental factors and predisposing genetic factors. Hitherto, only the long-allele of the serotonin transporter gene promoter polymorphism has been indicated as potential risk factor for OCD. In the present study we aimed to investigate genetic polymorphisms in the serotonin transporter, tryptophan hydroxylase 2 (TPH2), and serotonin 1A and 1B receptor genes. Clinical diagnosis of 115 OCD patients was obtained by the DSM-IV criteria, for symptom assessment the Children’s Yale-Brown Obsessive Compulsive Scale was administered. Anxiety or mood disorder was present in 38%, and 48% of the children had comorbid tics. Variable number of tandem repeats in the serotonin transporter gene (5HTTLPR in the promoter region, STin2 in the second intron) and single nucleotide polymorphisms in the TPH2 and serotonin receptor genes were studied. Allele- and genotype-frequencies of the OCD clinical group as well as subgroups of OCD with/without tics or anxiety disorder were compared to a sex matched (77.2% male and 22.8% female) control group. The serotonin transporter polymorphisms were associated with OCD, more specifically with the OCD + anxiety disorder subgroup. Genotype frequency of the STin2 was significantly different when the anxiety present OCD group was compared to the anxiety absent OCD group or to the control group (p = 0.04, and p = 0.05, respectively). In addition, increased SL genotype frequency of 5HTTLPR could be detected in this subgroup. This work was supported by OTKA-F67784. P09.093 AXIN contributes to cleft lip and palate in multiple populations R. Menezes, M. L. Marazita, M. E. Cooper, T. G. McHenry, K. Bardi, C. Brandon, A. Letra, R. A. Martin, A. R. Vieira; University of Pittsburgh, Pittsburgh, PA, United States. Cancer and congenital malformations occasionally may have a common etiology. We have recently demonstrated that families segregating oral clefts present a higher incidence of family history of cancer and that AXIN2, a gene that when mutated increases susceptibility to colon cancer, was associated with cleft lip with or without cleft palate (CL/P) in a US population. In this study, we genotyped 484 families with more than two affected cleft individuals from North America (USA), Europe (Spain, Hungary and Turkey), Asia (China and India) and central America (Guatemala) to test for association with AXIN2. TaqMan chemistry was used to generate genotype data in four SNP markers and alleles at each AXIN2 SNP were tested for transmission distortion with CL/P using the Family-Based Association Test (FBAT). We tested each population individually and pooled for all populations as well as for Caucasian, Asian, and Hispanic subsets. AXIN2 markers were associated with CL/P in the U.S. group (p=0.01), in the Spanish cohort (p=0.04), and in the pooled dataset (p=0.02). The association was more significant in the U.S. group when only cleft lip and palate individuals were considered in the analysis (p=0.003). Our results suggest that AXIN2 represents a component in the etiology of human clefting. P09.094 Identification of genetic risk factors for preventing osteoporosisrelated fractures D. Stoicanescu1 , M. Cevei2 , V. Belengeanu1 , E. Sirbu3 , B. Almajan-Guta4 ; 1University of Medicine and Pharmacy “Victor Babes”, Timisoara, Romania, 2 3 Faculty of Medicine and Pharmacy, Oradea, Romania, West University, Timisoara, Romania, 4University “Politehnica”, Timisoara, Romania. Osteoporosis is a polygenic disorder dependent on multiple genes and environmental factors. It is one of the major and growing health care problems around the world, related to the general aging of societies, with improvement in preventive health and delay in mortality. Fracture, the clinical outcome of osteoporosis, is also dependent on genetic factors, with a heritability of about 25-35%. The objective of the present study was to describe genetic epidemiological aspects of osteoporosis, as family history may predict the disease risk in otherwise healthy women. 62 patients were studied, mean age of 51 years, just before or soon after menopause. 2/3 of the women who had mothers with osteoporosis developed this disease too, which proves that the maternal parent with osteoporosis represents an important risk factor, unfortunately not possible to influence. About 1/3 of these women had vertebral osteoporosis, half of them having 1 or more vertebral fractures. Osteoporosis was developed in more than 2/3 of the cases in which menopause was settled before the age of 45. Thus, settling of menopause before this age is a very important cause for the release of physiopathological mechanisms of osteoporosis. A parental history of fracture confers an increased risk of fracture that is independent of bone mineral density, suggesting that there is another shared component, which influences bone fragility. These results provide an initial epidemiological profile for osteoporosis and fracture risk besides information useful for genetic counseling. P09.095 Genetic associations of the antioxidative enzyme glutathione peroxidase 1 with low bone mineral density in men S. Jurković Mlakar 1 , J. Osredkar 1 , J. Prezelj 2 , J. Marc 3 ; 1 Institute for Clinical Chemistry and Clinical Biochemistry, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia, 2 Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia, 3 Department for Clinical Biochemistry, Faculty of Pharmacy, 1000 Ljubljana, Slovenia. Glutathione peroxidase 1 (GPX1) is an important antioxidant enzyme in humans. It protects human body from negative effects of reactive oxygen species. Recently, oxidative stress has been suggested to participate in the development of osteoporosis. Osteoblasts can produce antioxidants such as GPX1 to protect against reactive oxygen species. The aims of this study were to determine frequencies of genotypes of GPX1 genetic polymorphisms and to associate with low bone mineral density (BMD) and concentration of plasma osteocalcin of 115 men, aged 67,96 ± 6,01 years. Each patient was examined clinically with the measurement of BMD and concentration of plasma osteocalcin. PCR was used to amplify two fragments in coding regions of the gene GPX1 to determine polyalanine regions of 5, 6 and 7 trinuclotide repeats using the DHPLC method and Pro198Leu polymorphism using RFLP method. The frequencies of genotypes of 115 men subjects were as follows: 5/5 (27,8%), 5/6 (19,1%), 5/7 (22,6%), 6/6 (9,6%), 6/7 (13,9%), 7/7 (7,0%) for the polyalanine repeats and CC (54,8%), CT (35,7%), TT (9,6%) for Pro198Leu polymorphism. The genotype 6/7 is significantly associated with a higher BMD value of femoral neck and total hip than the 5/5, 5/6, 5/7 and 6/6 genotypes (p
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Reproductive genetics two cohorts w
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Reproductive genetics the 147 SC ch
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Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics and
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Prenatal and perinatal genetics fro
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Prenatal and perinatal genetics dev
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Page 207 and 208: Cancer genetics screening was perfo
Page 209 and 210: Cancer genetics val (DFI) than pati
Page 211 and 212: Cancer genetics is hTERC gene ampli
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Page 217 and 218: Cancer cytogenetics mutations in co
Page 219 and 220: Cancer cytogenetics P07.08 molecula
Page 221 and 222: Statistical genetics, includes Mapp
Page 235 and 236: Complex traits and polygenic disord
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Page 267 and 268: Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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