2009 Vienna - European Society of Human Genetics

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Statistical genetics, includes Mapping, linkage and association methods P07.12 Screening of TERC gene amplification as an additional genetic diagnostic test in detection of cervical pre-neoplastic lesions N. Kokalj Vokac, T. Kodric, A. Erjavec Skerget, A. Zagorac, I. Takac; University Medical Centre Maribor, Maribor, Slovenia. The aim of the current study was to present TERC gene amplification as possible diagnostic marker for use in routine cytological screening to improve the accuracy of conventional screening procedure in detection of cervical pre-neoplastic lesions. Cervical smears were screened and classified as low-grade squamous intraepithelial lesions (LSIL) and high-grade squamous intraepithelial lesions (HSIL). From the same specimens FISH procedure using TERC-specific DNA probe was performed. Copy number enumeration for TERC gene was evaluated. More than 2 signals per cell were considered as TERC positive case. In cervical smears graded after conisation as CIN1, no TERC positive cases were found in either LSIL or HSIL. Neither was TERC amplifications found in LSIL cases with histological results CIN1 and CIN 2. Amplifications of the TERC gene first appeared in HSIL cases with CIN2 histology. In the group of CIN3, TERC positive cases were present in LSIL and HSIL. In these, there were no statistically significant differences between TERC positive and TERC negative cases. Statistically significant differences in TERC positive cases were found between LSIH and HSIL without regard to the CIN grade. From the results obtained, it can be concluded that TERC gene amplifications inevitably lead to a high risk of CIN3 in both LSIL and HSIL after cytological smear examination. A high CIN is not necessarily correlated with TERC amplification, but a positive TERC result certainly demands a high CIN classification. P08.01 contribution of AcE i/D polymorphism to the risk of end stage renal disease in Romanian population N. M. Panduru1 , D. Cimponeriu2 , P. Apostol2 , M. Stavarachi2 , M. L. Toma2 , M. Mota3 , E. Mota3 , C. Serafinceanu1 , M. Panduru2 , D. M. Cheta1 ; 1 2 IDNBM, Bucharest, Romania, Institute of Genetics, Bucharest, Romania, 3University of Medicine and Pharmacy Craiova, Craiova, Romania. Introduction: End stage kidney disease (ESRD) is due to diabetes, hypertension, glomerulonephritis and cystic kidney disease. All this diseases seems to be connected with a genetic background which is predisposing to the development of the disease. Because diabetes and hypertension are the first two causes for ESRD and rennin angiotensn system has a important role in pathogenesis of this affection, ACE polymorphisms, specially ACE I/D have been extensively studied. Aim: The aim of the present study is to evaluate the contribution of ACE I/D polymorphism to the risk of development of ESRD in diabetic and non-diabetic Romanian population. Material and method: Clinical data and blood sample were collected from 321 Romanian type 1 diabetic patients, after inform consent. The patients were divided in three groups 1-healthy controls (119 patients), 2-ESRD due to other causes except diabetes (119 patients), 3-ESRD with diabetes (83 patients). Genomic DNA was extracted from peripheral blood leucocytes using commercial kits and the ACE I/D polymorphism was assessed by PCR-RFLP. Results: The sample population is in Hardy-Weinberg equilibrium. The DD genotype was found in 36,13% in non-diabetic subjects and 32,25% in diabetic subjects comparative with 31,09% in healthy controls. The ID genotype frequency was 49,57% in healthy controls, 48,75% in non-diabetic patients with ESRD and 53,01% in diabetic subjects with renal insufficiency. Conclusions: The DD genotype does not seems to confer a high risk for renal insufficiency in diabetic patients (OR=1,068, CI=95%) and in non-diabetic patients (OR=1,253, CI=95%). The heterozygote genotypes had a smaller risk for ESRD. P08.02 incorporating Quantitative covariates into simultaneous Localization of two Linked Loci Using Affected Relative Pairs Y. Chiu1 , J. Chiou2 , L. Chun-Yi1 ; 1 2 National Health Research Institues, Zhunan, Taiwan, Academia Sinica, Taipei, Taiwan. Many dichotomous traits for complex diseases are often involved more than one locus and/or associated with quantitative biomarkers or envi- ronmental factors. Incorporating these quantitative variables into linkage analysis as well as localizing two linked disease loci simultaneously could therefore improve the efficiency in mapping genes. Previously, we proposed a robust multipoint Identity-by-Descent (IBD) approach to estimate a disease locus using affected sib pairs with incorporation of a quantitative covariate. In the present study, we extended this approach to simultaneously estimate two linked loci using different types of affected relative pairs (ARPs). We showed the efficiency was enhanced by localizing two disease loci simultaneously and by using relative pairs than using affected sib pairs alone after incorporating a quantitative covariate through parametric or non-parametric modeling. In addition to help identify factors associated with the disease and to improve the efficiency in estimating disease loci, this extension also allows us to account for heterogeneity in risk ratios for different ARPs. The collaborative study on the genetics of alcoholism (COGA) data released for GAW14 was used to illustrate the application of this extended method. The quantitative variable “maximum number of drinks in a 24 hour period” was incorporated into the linkage mapping when searching for two linked disease loci simultaneously using affected relative pairs. This example illustrated that the efficiency in estimating disease loci was enhanced by incorporating a quantitative covariate, by using all relative pairs as well as by mapping two linked loci simultaneously. P08.03 Alcoholism and genetic polymorphisms of gabaergic system: an experimental sNPstream study M. Tucci 1 , C. Terranova 1 , M. Curtarello 1 , L. Barzon 2 , G. Palu 2 , G. Forza 1 , S. Ferrara 1 ; 1 Section of Legal Medicine - University of Padova, Padova, Italy, 2 Department of Histology, Microbiology and medical Biotechnology - University of Padova, Padova, Italy. Previous studies have advanced the hypothesis that gamma-aminobutyric acid (GABA) is associated to alcohol use disorder (abuse and dependence). This association is suggested by studies that link alcohol to withdrawal tolerance, and the symptoms that define alcohol use disorder. The aim of our study was to examine single nucleotide polymorphisms (SNPs) in the glutamate decarboxylase (GAD) 67 gene, the rate-limiting enzyme in the synthesis of GABA, associated with alcohol abuse. The research has been structured as a case-control study. The total cohort analyzed was 283 individuals, 107 of which were alcohol dependent according to the DSM IV TR criteria and 176 controls recruited from blood donors. The study protocol has been approved by Ethical Committee. Specifically we analyzed 26 SNPs localized in the coding and in the untranslated regions of the GAD 67 gene with the GenomeLab SNPStream Genotyping System. Our preliminary results show a significant difference in genotype distribution of one SNP (rs 11542313) localized in the exon 3 of the GAD 67 gene that is responsible for a silent mutation HIS-HIS (p=0.0015). In order to clarify the meaning of this association, further genetic analysis are being undertaken. In particular, we are investigating other genetic polymorphisms up and down stream from rs 11542313 that could interfere with splicing and/or GAD 67 mRNA stability. P08.04 Association analysis of sNPs in the APP, RUNX1 and DiRK1A genes on chromosome 21 with late-onset of Alzheimer‘s disease in a sample of mexican patients C. V. Venegas 1 , F. Fernandez 2 , F. Mena 2 , L. Gutierrez 3 , O. Rosas 4 , Z. Najera 5 , S. Kofman 6 ; 1 Hospital General de Mexico. Facultad de Medicina. Universidad Nacional Autónoma de México, Mexico. D.F, Mexico, 2 Hospital General de Mexico, Mexico. D.F, Mexico, 3 Servicio de Geriatría, Instituto Nacional de la Nutrición y Ciencias Médicas, Mexico, 4 Servicio de Geriatría, Instituto Nacional de la Nutrición y Ciencias Médicas, Mexico. D.F, Mexico, 5 Facultad de Ciencias, UNAM, Mexico. D.F, Mexico, 6 Hospital General de Mexico, Facultad de Medicina, Universidad Nacional Autónoma de México, Mexico. D.F, Mexico. Background: The β Amyloid precursor protein (APP), Runt-related transcription factor 1 (RUNX1) and dual-specificity tyrosine (Y) phosphorylation-regulated kinase 1A (DYRK1A) genes are strong positional and biologic candidates for late-onset Alzheimer disease (LOAD) sus-
Statistical genetics, includes Mapping, linkage and association methods ceptibility. These genes are located on chromosome 21q21.3-22.13, and showed linkage for LOAD. Additionally, recent studies indicate that variants in the promoter of the APP gene could up-regulate the APP gene expression and that DYRK1A could be a key molecule bridging between β -amyloid production and tau phosphorylation. Several polymorphisms of these genes have been analyzed, however a systematic meta-analysis of this SNPs in previous association studies, suggested that only (APP=rs364048), (RUNX1=rs4816501) and (DIRK1A= rs2835740) are true allele risk with OR>1.80. Materials and Methods: A case-control study was design to evaluate the possible association between these SNPs with LOAD in Mexican patients. We studied 58 patients with LOAD and 70 sex and age-matched controls subjects. We analyzed alleles and genotype distributions for APOE (ε2/ε3/ε4), (-955A/G) of the APP promoter, (C/T) of the RUNX1, and (T/C) of the DIRK1A. Results: We found different genotype frequencies for all SNPs analyzed between cases and controls. Association was observed for the APOE ε4 allele (OR =1.65), AA genotype of APP (OR =1.67), TT genotype of RUNX1 (OR=1.24) and CC genotype of DIRK1A (OR =1.24). Conclusions: These data suggest a genetic association between these genotypes with LOAD in Mexican population. Our results differ from studies performed in other populations. Acknowledgements: This work was supported in part by CONACyT (2004-C01-129) and UNAM (SDEI. PTID.05.5) P08.05 Analysis of PiN1 genetic variation in Alzheimer’s disease A. Maruszak 1 , K. Safranow 2 , K. Jakubowska 3 , M. Olszewska 2 , B. Kijanowska- Haładyna 4 , K. Gustaw 5 , D. Chlubek 2 , M. Barcikowska 1 , C. Żekanowski 1 ; 1 Department of Neurodegenerative Disorders, Mossakowski Medical Research Centre, Warsaw, Poland, 2 2. Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland, 3 Department of Biochemistry and Medical Chemistry, Pomeranian Medical University,, Szczecin, Poland, 4 Institute of Psychiatry and Neurology, Warsaw, Poland, 5 4. Alzheimer’s Research Unit, Institute of Agricultural Medicine, Lublin, Poland. Background: Alzheimer’s disease (AD) is one of the most common neurodegenerative disorders. As PIN1 plays a significant role in the brain and the influence of PIN1 genetic variants in Alzheimer’s disease remains unresolved, we performed an exhaustive analysis of PIN1 in the Polish cohort. Methods: 111 late onset (AAO: 73.2±5.0 years, range 66-88; 69.4% females) and 49 early onset AD patients (AAO: 52.6±9.8 years; 57.1% females) were recruited. The control group consisted of 104 healthy, non-demented individuals (mean age: 75.1±5.2 years, range: 68-90; 71.15% females). We performed sequencing and/or dHPLC of PIN1 promoter and coding region in the studied groups and real-time PCE to quantify PIN1 expression in the patient with c.58+64C>T substitution. Results: Genotype, allele and haplogroup frequencies of common PIN1 polymorphisms were similar in LOAD and EOAD patients in comparison with the controls. However, we identified four novel PIN1 mutations (g.9805833T>C, c.24C>T, c.58+64C>T, c.382+105C>T) in early-onset AD patients (EOAD). c.58+64C>T substitution was also present in two late-onset AD patients (LOAD). None of the novel variants was detected in the control group. Conclusions: Although analyzed common polymorphisms are not associated with AD in the Polish cohort, further studies are required to resolve whether rare PIN1 mutations could contribute to AD etiology. P08.06 Variations in two lipid metabolizing genes and susceptibility to sporadic Alzheimer’s disease V. Andreoli 1 , F. Trecroci 1 , A. La Russa 1 , R. Cittadella 1 , P. Spadafora 1 , G. Di Palma 1 , M. Caracciolo 1 , A. Quattrone 1,2 ; 1 Institute of Neurological Sciences, National Research Council, Pianolago di Mangone (CS), Italy, 2 Institute of Neurology, University Magna Graecia, Catanzaro, Italy. Alzheimer’s disease (AD) is the most common form of dementia. Currently, the apolipoprotein E (APOE) ε4 allele is the sole identified genetic risk factor for sporadic AD (sAD) but the underlying mechanism is not understood. One hypothesis to explain how the ε4 allele might affect increase AD risk in humans relies on an interaction between APOE and its receptors. Particularly, the low density lipoprotein receptor-related protein (LRP1) is the main APOE receptor in the brain. LRP mediates clearence of β-amiloid aggregates of which lead to the formation of senile plaques, a pathological hallmark of AD. Consequently, any variations in LRP gene will lead to a defect in clearance of LRP high affinity ligands, as the LRP-associated protein gene (LRPAP1). Taken together, these data suggest that LRPAP1 could be involved in the clearance of β-amyloid, and genetic variation at this gene could modulate the rate of plaque formation. The association of the C766T polymorphism in exon 3 of the LRP gene with AD is discussed controversially. Here, we analyzed this LRP variation and the association of intron 5 LRPAP1 (37 bp insertion/deletion) polymorphism in a number of sAD patients and controls from the same white population (Southern Italy). No statistically significant differences were found in LRP1 and LRPAP1 genotype and allele frequencies between the AD sample and controls. Together, the findings do not support a strong correlation of the exon 3 LRP and intron 5 LRPAP1 polymorphisms with AD, indicating that these variations only represent a minor risk factor for AD. P08.07 Detecting recessive loci using very distant consanguineous relationships in a case study (AmRF) M. Bahlo 1 , C. J. Bromhead 1 , M. A. Bayly 2 , L. M. Dibbens 2 , S. F. Berkovic 3 ; 1 Walter and Eliza Hall Institute of Medical Research, Parkville, Australia, 2 Women’s and Children’s Hospital, Adelaide, Australia, 3 Austin Health and Northern Health, Heidelberg, Australia. We recently identified a novel epilepsy gene for Action Myoclonus Renal Failure Syndrome using just three unrelated affecteds. Only one affected was known to be the offspring of a consanguineous relationship. We identified an additional consanguineous relationship, which was not known, for one of the other affecteds. Since publication of this gene we have identified mutations in a further ten patients displaying a total of ten different mutations in this gene. Simplified Hidden Markov Models (HMMs) to identify identity by descent (IBD) sharing between distantly related individuals have recently been proposed. These methods can be viewed as halfway points between pedigree-free homozygosity by state sharing methods and full multipoint mapping and can assess sharing in very deep consanguineous loops due to the availability of the much higher density SNP chip mapping data. These new approaches are promising but have not been applied to many case studies. We have applied these methods to our AMRF cohort where we know that the mutations lie in the gene SCARB2. This allows assessment of their potential in identifiying new susceptibility loci for rare recessive diseases genome wide with just single cases known, or inferred to be, the offspring of distant consanguineous relationships. P08.08 AcE i/D polymorphism is associated with abdominal aortic aneurysm I. Novakovic1 , D. Cvetkovic2 , N. Maksimovic1 , S. Cvetkovic3 , L. Davidovic3 ; 1Institute of Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia, 2Faculty of Biology, University of Belgrade, Belgrade, Serbia, 3Vascular Surgery Clinic, Institute for Cardiovascular Diseases, Clinical Center of Serbia, Belgrade, Serbia. The purpose of this study was to examine the relationship between the polymorphism in angiotensin converting enzyme gene (ACE, I/D) and abdominal aortic aneurysm (AAA), a common vascular disease with high fatality rate. Previous studies have already pointed out that the genes of the RAS system may have a significant role in AAA formation. The study included a total of 127 unrelated individuals: 63 patients with AAA (56 males and 7 females, median age 69, range 32-84), and 64 healthy controles comparable for sex and age. Out of 63 patients who underwent surgery, 33 were with ruptured aneurysms (RA) and 30 with nonruptured, asymptomatic aneurysms (NRA). They were genotyped for the ACE I/D polymorphism by standard PCR analysis. Allele and genotype frequencies were compared between patients and controls using Chi-square test, and Kruskal-Wallis test was used to examine differences in aneurysm diameter between genotypes. ACE D allele was significantly more frequent in AAA patients compared to the healthy controls (0.722 vs. 0.578, p=0.016). The genotype distribution of ACE I/D was significantly different between patients and controls, but not between RA and NRA group. Significant association was found between DD genotype and the presence of AAA (OR DD
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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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Page 171 and 172: Cancer genetics P06.005 tiling reso
Page 173 and 174: Cancer genetics tient group in whic
Page 175 and 176: Cancer genetics chronic inflammatio
Page 177 and 178: Cancer genetics licular thyroid can
Page 179 and 180: Cancer genetics also studied. In 31
Page 181 and 182: Cancer genetics tile polyposis. We
Page 183 and 184: Cancer genetics Upon recombinant ex
Page 185 and 186: Cancer genetics variant allele was
Page 187 and 188: Cancer genetics from patients with
Page 189 and 190: Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
Page 193 and 194: Cancer genetics of the ZIC gene fam
Page 195 and 196: Cancer genetics Materials and metho
Page 197 and 198: Cancer genetics the past and it is
Page 199 and 200: Cancer genetics P06.130 spectrum an
Page 201 and 202: Cancer genetics P06.139 the role of
Page 203 and 204: Cancer genetics and MSH2 germline m
Page 205 and 206: Cancer genetics P06.155 New roles f
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
Page 213 and 214: Cancer genetics on chromosome regio
Page 215 and 216: Cancer genetics preferentially dupl
Page 217 and 218: Cancer cytogenetics mutations in co
Page 219: Cancer cytogenetics P07.08 molecula
Page 223 and 224: Statistical genetics, includes Mapp
Page 235 and 236: Complex traits and polygenic disord
Page 267 and 268: Evolutionary and population genetic
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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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