2009 Vienna - European Society of Human Genetics

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Statistical genetics, includes Mapping, linkage and association methods P08.34 comprehensive approach to investigate the genetic basis of hereditary hearing loss in iranian population H. Najmabadi 1 , C. Nishimura 2 , N. Meyer 2 , T. Yang 2 , N. Bazazzadegan 1 , Y. Riazalhosseini 1 , G. Asaadi Tehrani 1 , A. Daneshi 3 , M. Farhadi 3 , S. Yahyavi 1 , P. Imani 1 , A. Anousheh 1 , A. Nazeri 1 , K. Jalalvand 1 , M. Malekpour 1 , N. nikzat 1 , S. Arzhangi 1 , S. Azimi 1 , F. Larti 1 , Z. Fattahi 1 , M. Babanejad 1 , K. Kahrizi 1 , R. J. H. Smith 2 ; 1 Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Islamic Republic of Iran, 2 Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, IA, United States, 3 Research Center of Ear, Nose, Throat, and Head and Neck Surgery, Iran university of Medical sciences, Tehran, Islamic Republic of Iran. Genetic testing for deafness in Iran is well established. The population is extremely heterogeneous, which means that ethnic-specific data are required. We have generated much of these data by screening over 2000 families segregating autosomal recessive non-syndromic deafness (ARNSD). All patients were screened for mutations in GJB2 and GJB6 (DFNB1), and if no mutations were identified, haplotypes were reconstructed by typing three short tandem repeat polymorphisms flanking 22 known ARNSD loci. In a subset of families, genome-wide linkage analysis was completed. Our data show that 16.7% of the Iranian population with ARNSHL segregates mutations in GJB2. The most prevalent mutation in this gene was 35delG, although 34 different mutations have been identified of which seven are common. We have also identified a novel GJB2 mutation in an endogenous population segregating ADNSHL in village in northern Iran. In approximately 30% of families, we have been able to establish a genetic cause for deafness. Over half have mutations in GJB2, and followed by mutations in SLC26A4, TECTA and USH1C . We have also found mutations in PJVK, TMC1, USH1C, OTOF, MYOVIIA and VLGR1. Lastly, we have described a new syndrome, a contiguous gene deletion syndrome that involves both deafness and infertility in males (DIM Syndrome). These data from the Iranian population attest to its diversity and contribute to the current body of knowledge regarding the deafness of genetics. P08.35 Evidence for genetic heterogeneity of bipolar disorder according to age at onset in 2q14 M. Dizier 1 , F. Mathieu 2 , European Collaborative Study of Early-Onset BPAD; 1 INSERMU535, Villejuif, France, 2 INSERMU955, Créteil, France. The aim of the present study is to perform a fine mapping of 8 regions previously identified by a genome-wide linkage analysis in European families ascertained through an early onset bipolar affective disorder (BPAD) type I proband (Etain et al., 2006). Early age at onset was defined as an age at first thymic episode below 21 years. The initial sample of 70 families was extended to 120. Probands were early onset bipolar type I patients and affected sibling were either early onset BPAD type I patients, later onset of BPAD type I or early onset BPAD type II). Since presence of genetic heterogeneity of BPAD may exist according to the phenotypic heterogeneity of siblings, the Predivided Sample Test and the Maximum Likelihood Binomial methods were used to test genetic heterogeneity using 138 independent affected sib-pairs. Of the 8 regions of linkage suggested by our previous genome scan, six regions (2q14, 3p14, 5q33, 7q36 16p23 and 20p12) remained linked to BPAD. Regions (2p21 and 10q23) were not confirmed. A genetic heterogeneity was revealed between early and late onset BPAD type I in the 2q14 region (p=0.0001) using the two methods. For BPADI sibpairs concordant for early age at onset, parental allele sharing proportion is higher (0.58) than for discordant pairs for age at onset, i.e. late onset BPADI (0.28). All these results show for the first time the underlying genetic heterogeneity in bipolar affective disorder and validate the age at onset as a relevant factor in its genetic vulnerability. P08.36 Frequency of single nucleotide polymorphisms in ABCG gene in Japanese hyperuricemic patients K. Ichida 1,2 , H. Matsuo 3 , N. Shinomiya 3 , T. Hosoya 2 ; 1 Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, 2 Jikei University School of Medicine, Tokyo, Japan, 3 National Defense Medical College, Tokorozawa, Japan. Gout is a heterogeneous diseases resulting from tissue deposition of uric acid crystals, based on hyperuricemia. Uric acid is the end product of human purine metabolism and serum uric acid concentration is determined by the balance between production and elimination. The kidney plays a main role in uric acid elimination. The transporters for uric acid have been identified such as URAT1, OAT1, OAT3 and MRP4. Several recent genome-wide association studies identified associations between single nucleotide polymorphisms (SNPs) in the other transporter genes, SLC2A9, SLC17A3 and ABCG2, and serum uric acid concentration and gout. For evaluation of influence of ABCG2 on serum uric acid concentration, we identified the frequency of SNPs in ABCG2 gene of 198 Japanese hyperuricemic patients. As a result, the frequency of some SNPs has been higher than that of Japanese population. It suggests that the functional variation of ABCG2 due to the SNPs influences serum uric acid concentration. P08.37 Allele frequency of two autosomal stR loci FGA and D7s820 in iranian population M. Sharafi Farzad1 , S. Kiyanfar1 , Z. Shahab Movahed1 , S. Mousavi1 , S. Zeinali2 ; 1 2 Kawsar Genomics Research Center, Tehran, Islamic Republic of Iran, Pasteur institute of Iran, Tehran, Islamic Republic of Iran. Short tandem repeat (STR) genetic loci were assigned for use in forensic investigation. Allele frequency of two autosomal STR loci FGA and D7S820 were determined in Iranian population. DNA from 579 or 556 unrelated individuals were analyzed for D7S820 and FGA markers respectively. Extracted DNA were amplified by using AmpF STR Identifiler Kit and 3130 Genetic Analyzer from ABI (US). Allele frequencies and forensic efficiency parameters such as Heterozygosity (H), Polymorphism Information Content (PIC), Power of Discrimination (PD), Propability of Match (PM), Power of Exclusion (PE), and typical Paternity Index (PI), were calculated using the PowerstatsV12.xls software (Promega, US). A total of 11 alleles for D7S820 and 13 alleles and 9 iteralleles for FGA could be observed. In the case of FGA, allele 23 showed the highest frequency (18.2%) and alleles 16, 28 and interalleles 18.2, 31.2 had the lowest frequencies (0.1%). Allele range in FGA was from 16 to 31.2 repeats with lower match propability (MP=0.034) compared with D7S820 (MP=0.066). In D7S820 marker the highest frequency (25.9%) was belonged to allele 11 and the lowest frequencies (0.1%) were found to be for repeats 29, 30. Also the highest PD (0.966) and PE (0.658) belonged to FGA. We also observed several interalleles for FGA marker. But there was not any evidence of interalleles for D7S820 locus.The results indicated that the both loci were in Hardy-Weinberg equilibrium. P08.38 A genetic study of the VWA and tHO1 short tandem repeat systems in iranian population S. M. Z. S. Kiyanfar, S. Kiyanfar; Kawsar Genomics Research Center, Tehran, Islamic Republic of Iran. Several STR markers have been investigated to be routinely used for forensic purposes. Allele frequencies of the two short tandem repeats (STRs) namely VWA and THO1 were determined in Iranian population. DNA from 573 or 596 unrelated individuals were analyzed for THO1 and VWA markers respectively. Extracted DNA were amplified by using AmpF STR Identifiler Kit and 3130 Genetic Analyzer from ABI (US). Allele frequencies and forensic efficiency parameters such as Heterozygosity (H), Polymorphism Information Content (PIC), Power of Discrimination (PD), Propability of Match (PM), Power of Exclusion (PE), and typical Paternity Index (PI), were calculated using the PowerstatsV12.xls software (Promega, US). A total of 16 alleles for VWA and 16 alleles for THO1 could be observed. In the case of VWA, allele 17 showed the highest frequency and alleles 8, 9, 9.3, 10,11,12,15.2 had the lowest frequencies. Allele range was from 8 to 20 repeats with higher match propability (MP=0.083) compared with THO1. In THO1 marker the highest frequency was belonged to allele 6 and the lowest frequencies were found to be for repeats 5,13,17. Also the highest PD and PE belonged to THO1. We also observed several interalleles for both markers. In this study both loci provided allelic frequencies of high heterogeneity to use them for forensic and related purposes.
Statistical genetics, includes Mapping, linkage and association methods P08.39 Leptin and leptin receptor gene variation and human obesity Ž. Tomas 1 , N. Smolej Narančić 1 , M. Barbalić 1 , M. Zajc 1 , T. Škarić-Jurić 1 , P. Rudan 1 , I. Rudan 2,3 , H. Campbell 3 , A. F. Wright 4 ; 1 Institute for Anthropological Research, Zagreb, Croatia, 2 Croatian Center for Global Health, Faculty of Medicine, University of Split, Split, Croatia, 3 Community Health Sciences, University of Edinburgh, Medical School, Edinburgh, United Kingdom, 4 MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom. Leptin is a protein hormone with important role in regulation of body weight, metabolism, reproductive function, modulation of immune response and angiogenesis. As a regulator of body weight, it operates by inhibiting food intake and stimulating energy expenditure and its concentration in the blood serum is proportional to the amount of body fat. Polymorphic leptin and leptin receptor genes have often been investigated as possible factors associated with human obesity. We tested polymorphisms G-2548A in the promoter region and A19G in exon 1 of the leptin gene and polymorphisms G-1041A in the promoter region, Arg109Lys in exon 4 and Arg223Gln in exon 6 of the leptin receptor gene for association with leptin concentration and obesity. Allelic frequencies of these polymorphisms show inter-poplational variation. A population-based association study was conducted in the population isolate of the Eastern Adriatic island of Vis, Croatia (N=243, age 22- 85 yrs). Obesity was defined as BMI≥30 kg/m 2 . Leptin concentration was significantly higher in the obese (65.3 ng/ml), than in the nonobese (19.9 ng/ml) and in women (44.6 ng/ml) compared to men (13.8 ng/ml). The results indicated significant association of -2548G variant and leptin concentration in men (p=0.013). No association of the other studied polymorphisms with leptin concentration was found, and none of the studied polymorphisms showed association with obesity (with leptin concentration, sex and age as covariates). The lack of association could be due to the complex pathogenesis of obesity, which involves a number of genetic and environmental factors. P08.40 statistical properties of tests of association performed on mixtures of singletons and related individuals: effects of the nonorthogonality of linkage and LD parameters on type i error and power T. Hiekkalinna 1,2 , L. Peltonen 3,2 , J. Terwilliger 4,2 ; 1 National Institute for Health and Welfare, Helsinki, Finland, 2 Institute for Molecular Medicine Finland FIMM, Helsinki, Finland, 3 Welcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom, 4 Department of Genetics and Development, Columbia University, New York, NY, United States. The current trend in mapping of the complex diseases is genome-wide association by analyzing anonymous SNP markers in cohorts of unrelated cases and controls. A motivation for this is that unrelated individuals sharing some phenotype are much easier to collect than large families with multiple affected persons, when the genetic portion of the phenotypic etiology is incomplete. In this study, we examined the statistical properties of several commonly used family-based association tests in genetic epidemiology as to their performance using real-life mixtures of families and singletons taken from our own migraine and schizophrenia studies. We simulated a disease conditional on the known phenotype structures in these pedigrees under a variety of inheritance models in which one variant in a given gene region influences the trait to some degree. The results of our study showed the in virtually every situation, the full likelihood-based methods outperformed the simpler “data structuremotivated” tests. In truth we never know the true analysis models, so we noticed that the power of a joint-test of linkage and association was robust to model errors (so long as the analysis model is overly determined), the test of association conditional on linkage can have difficulty parsing the signal from LD and linkage satisfactorily under certain analysis options, owing to the nonorthogonality of those parameters. A simulation-based as well as formal analytical description and explanation will be presented, along with discussions of bias-correction methods to restore the validity of this family of powerful and highly sensitive tests. P08.41 Analytic approaches to power estimation for linkage analysis of large pedigrees G. R. Svischeva, T. Axenovich; Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation. The variance-components method is widely used for linkage mapping of quantitative trait loci. Estimation of power for this method is based on asymptotic approximation of distribution of likelihood ratio statistics to a non-central chi-squared distribution described by a noncentrality parameter (NCP). Therefore, evaluating the power can be reduced to an estimation of the NCP. For small pedigrees, the NCP can be analytically expressed by simple formulas. For large pedigrees, analytical formulas cannot be deduced because the expectation of the test statistics must be estimated for all possible genotype vectors, the number of whose grows exponentially with increasing pedigree size. Recently Williams and Blangero (1999) and Rijsdijk et al. (2001) have suggested ways of approximating the NCP by the sum of NCP values for all pairs of relatives. Expectation of the NCP for any related pair may be calculated analytically. The effectiveness of this approach was demonstrated for small pedigrees. We have investigated using this approach for analysis of large pedigrees. We have compared two ways of the analytical NCP approximation showing their equivalence, and investigated the accuracy of the analytical NCP estimation for three large pedigrees and for wide set of models of quantitative trait inheritance. We have demonstrated that sample size estimated by the NCP approximation was slightly overstated (up to 8 %) as compared with sample size calculated through the exact NCP value. This overestimation was the same for large and small pedigrees. So, a special correction could be introduced to obtain unbiased estimation of the NCP. P08.42 Evidence for a susceptibility locus for ménière’s disease on chromosome 12p12.3. D. Gabriková 1,2 , J. Klar 1 , C. Frykholm 3 , U. Friberg 3 , S. Lahsaee 1 , M. Entesarian 1 , N. Dahl 1 ; 1 Dept. of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden, 2 Dept. of Biology, Faculty of Humanities and Natural Sciences, University of Prešov, Prešov, Slovakia, 3 Dept. of Surgical Sciences, Uppsala University, Uppsala, Sweden. Ménière’s disease (MD) is a disorder of the inner ear characterized by episodes of vertigo, tinnitus and fluctuating sensorineural hearing loss. Most MD cases are sporadic but 5-15% of patients are familial following an autosomal dominant mode of inheritance with incomplete penetrance. The genetic cause of the disease remains unknown. We have previously identified a candidate region for MD on 12p12.3 from a linkage analysis in three large Swedish pedigrees. Interestingly, affected individuals of two families share a single haplotype within the linked region, suggesting a possible ancestral mutation. To further clarify the role of chromosome 12p in MD we genotyped 15 Swedish families with familial cases of the disease. We analyzed 11 polymorphic marker loci over a 2Mb region in samples from affected individuals and healthy control subjects. The results revealed association of 5 polymorphic marker alleles to MD (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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Page 183 and 184: Cancer genetics Upon recombinant ex
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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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