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

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Genetic analysis, linkage, and association During the last 2 years, 67 patients (29 index cases, sporadic and some familial forms) were entirely tested by DHPLC. 20 index cases were found mutated with 13 different mutations, 8 of which being previously reported. DHPLC detected 5 novel mutations believed to generate AXD as: mutations arose de novo, were absent from healthy relatives and from 100 control chromosomes, affected a conserved amino-acid and a functionally important domain, and no other change was detected. Several prenatal diagnosis have been already carried out. DHPLC screening for GFAP mutations is confirmed to be a rapid, sensitive and reliable, cost-effective and high-throughput method for AXD diagnosis. P0902. The analysis of Eotaxin (CCL11) gene single nucleotide polymorphisms in allergic rhinitis patients and healthy donors from Volga-Ural region of Russia A. Khuzina 1 , A. Karunas 1 , A. Biktasheva 2 , A. Yuldasheva 3 , E. Etkina 2 , E. Khusnutdinova 1 ; 1 Institute of Biochemistry and Genetics, Ufa, Russian Federation, 2 Bashkir Medical State University, Ufa, Russian Federation, 3 Pediatric polyclinic N1, Ufa, Russian Federation. Allergic rhinitis (AR) is an inflammatory disease of the nasal mucosa that is characterized by sneezing, nasal congestion, and watery rhinorrhea. It is the most common form of atopic disease, affecting about 20% population in the world. Eotaxin is believed to play an important role in AR as a potent chemoattractant and activator of eosinophils and Th2 lymphocytes. The purpose of this study was to investigate the allele and genotype frequencies of two polymorphisms (−384A>G and 67G>A) of the gene in AR patients and in controls. The patient group consisted of 285 individuals with allergic rhinitis, the control group included 169 unrelated non-allergic individuals. Genomic DNA was extracted from peripheral blood leucocytes by standard phenol/chloroform method. Genotyping was performed by PCR followed by restriction digestion. No significant difference was observed in allele or genotype frequencies of any SNP between AR patients and controls. The most common genotype of −384A>G polymorphism was AG, revealed in 48,16% of patients and in 53,13% of control group . The frequency of GG genotype was insignificant higher in patient (29%) than in healthy donors (23%). The GG genotype of 67G>A polymorphism was prevalent in both groups (65,96% - in the patient, 69,82% - in the control). Thus, the data of this study has revealed negligible differences in the distribution of polymorphic alleles and genotypes of the CCL11 gene between compared groups, but not detected significantly association of single nucleotide polymorphisms of Eotaxin gene with AR in Volga- Ural region of Russia . P0903. Whole-genome association study of Alzheimer’s Disease using DNA pooling with microarrays G. Kirov, N. Norton, L. Georgieva, R. Abrams, A. Morgan, V. Moskvina, I. Nikolov, P. Hollingworth, P. Holmans, M. O’Donovan, J. Williams, M. Owen; Cardiff University, Cardiff, United Kingdom. Late-onset Alzheimer’s Disease (LOAD) has a strong genetic component but the only susceptibility gene definitively identified to date is APOE. We wanted to identify further susceptibility genes by performing a whole-genome association study. In order to reduce the cost, we used a DNA pooling approach. We constructed pools of 1000 LOAD cases and 1200 age- and gender-matched controls. We used Affymetrix 250K Sty and Nsp SNP genotyping arrays, as well as Illumina HH300 and HH240S arrays. These assay a total of over 1 million SNPs, of which 80,000 are represented on both platforms. Depending on the cost and quality of the hybridisations, we replicated each pool between 4 and 15 times on each array, and used between 3 and 8 high quality replicates of each array for analysis. In order to prove that our experiment is capable of detecting true genetic association, we examined whether we were able to detect the known association at APOE. 7 SNPs close to APOE showed differences in allele frequencies of >6%, of which 4 were >10%. This work demonstrated the accuracy of our pooling method and indicates that we would have easily detected the association with APOE, in spite of the fact that neither of the two SNPs that determine the ApoE4 genotype is on the arrays. Two of the four arrays detected the effect, probably due to the different SNP coverage and low LD in this region, showing the potential benefit of using all arrays. We are individually genotyping the other promising loci. P0904. Association of Long Polyglycine Tracts (GGN repeats) in Exon 1 of the Androgen Receptor Gene with Cryptorchidism and Penile Hypospadias in Iranian Patients R. Radpour 1 , M. Rezaee 2 , A. Tavasoly 3 , S. Solati 3 ; 1 Reproductive Biomedicine Research Center of Royan Institute, Tehran, Islamic Republic of Iran, 2 Avesina Research Institute, Beheshti University, Tehran, Islamic Republic of Iran, 3 Biomedical Research Center of Military University of Medical Sciences, Tehran, Islamic Republic of Iran. Hypospadias and cryptorchidism are the two most common congenital malformations in males affecting 0.3-0.7% and 2-4%, respectively, at birth. To study the association of CAG/GGN trinucleotide repeats in the androgen receptor gene (AR gene) with cryptorchidism and hypospadias in Iranian population, we performed a comprehensive case-control study of 76 cryptorchid and 92 hypospadiac (divided into subgroups of glanular, penile, and penoscrotal hypospadias) Iranian males. The length of the CAG/GGN repeat segment was evaluated by using PCR-sequencing in exon 1 of AR gene. To eliminate other mutations in the AR gene, exons 2-8 of AR gene were screened by PCR-SSCP. Exclusion of known causes of male infertility was done by karyotype analysis, Y chromosome microdeletion analysis, cystic fibrosis transmembrane regulator gene (CFTR) mutation analysis, and INSL3/LGR8 gene mutation analysis. There were no significant differences in CAG lengths between the cases and controls but GGN numbers were found to be significantly higher (median 24 vs. 22) among both subjects with penile hypospadias (P = 0.018) and those with a history of cryptorchidism (P = 0.001), compared with controls. In addition, the GGN numbers among subjects with penile hypospadias were significantly different, compared with the two other subgroups of hypospadias (P = 0.001). We were able to identify 12 different CAG alleles and 8 different GGN alleles in the cryptorchid group. Although further studies are needed to elucidate the possible role of specific CAG/GGC combinations, our data suggested the possible association between polyglycin tract polymorphism in androgen receptor gene and cryptorchidism. P0905. Allelic variants of APOA5 and its transcription factor USF1 predispose to atherogenic dyslipidemia P. P. Laurila 1 , J. Naukkarinen 1 , P. J. Barter 2 , C. Ehnholm 1 , L. Peltonen 1,3 ; 1 National Public Health Institute of Finland and Department of Medical Genetics, University of Helsinki, Helsinki, Finland, 2 The Heart Research Institute, Sydney, Australia, 3 The Broad Institute of MIT and Harvard, Boston, MA, United States. Atherogenic dyslipidemia (AD) is a component of the metabolic syndrome, a well-known cluster of risk-factors for type 2 diabetes. AD is characterized by abnormally high serum triglyceride and low HDL-cholesterol levels. The USF1 transcription factor and apolipoprotein A5 (APOA5) are key players in lipid metabolism. The two genes operate on the same pathways with USF1 known to be a major regulator of APOA5. We recently reported the association of USF1 with FCHL, a common dyslipidemia predisposing to cardiovascular disease (Pajukanta 2004) and also established the significance of USF1 in prospective population cohorts (Komulainen 2006). Multiple studies link plasma levels of APOA5 and the allelic variants of this gene with elevated plasma triglycerides. Here we show for the first time that allelic variants of APOA5 (S19W, -1131T>C, -1464T>C) associate with AD (p=0.009) as well as its component traits, changes in plasma triglycerides (p=0.00001) and HDL-cholesterol (p=0.0001) in 130 Australian AD families (n=533). We observed a dose-dependent association of a common APOA5 haplotype with elevated triglycerides and decreased HDL-cholesterol. A protective haplotype was also observed. Conditioning for the carriership of the APOA5 risk allele, a risk haplotype of USF1 was identified, in agreement with previous studies. Importantly, individuals carrying risk haplotypes for both genes had even higher plasma triglyceride levels than those carrying either APOA5 or USF1 risk haplotype alone (p=0.001). We thus hypothesize that the joint effect of risk alleles of APOA5 and its regulator, USF1, contribute to the pathogenesis of AD and potentially also to the metabolic syndrome. 2
Genetic analysis, linkage, and association P0906. Apolipoprotein A5 gene T1259C polymorphism associated with elevated circulating triglyceride levels but does not confer susceptibility for ischaemic stroke L. Járomi 1 , A. Maász 1 , Z. Szolnoki 2 , P. Kisfali 1 , K. Horvatovich 1 , L. Magyari 1 , E. Sáfrány 1 , V. Csöngei 1 , C. Sipeky 1 , B. Melegh 1 ; 1 Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary, 2 Department of Neurology and Neurophysiology, Pándy Kálmán County Hospital, Gyula, Hungary. Objectives: The common apolipoprotein A5 (ApoA5) gene variants, the T1131C, T1259C, IVS3+476G→A and S19W are subjects of extensive investigations due to the central role of the ApoA5 in the triglyceride metabolism. We examined the possible pathogenic role of the T1259C in triglyceride metabolism and in development of ischaemic stroke. Methods and results: A total of 399 patients who had stroke events were categorized into three stroke subgroups (small-vessel, large-vessel and mixed groups), 182 healthy subjects served as controls. The ApoA5 T1259C variant was determined by PCR-RFLP test. We found elevated triglyceride levels in patients bearing 1259C allele in each subgroup. However, the serum cholesterol levels showed no difference between subjects carrying C allele and subjects with TT genotype in either group. The 1259C allele frequencies were similar in each stroke subgroups and in controls (small-vessel: 11.6; mixed: 13.4; large-vessel: 11.5; overall: 12 vs. 10.2%; p
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Volume 15 Supplement 1 June 2007 ww
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Table of Contents Spoken Presentati
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Plenary Lectures Plenary Lectures P
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Plenary Lectures labile iron can be
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Concurrent Symposia S07. Vertebrate
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Concurrent Symposia S17. Towards a
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Concurrent Symposia 11 at E13.5 sim
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Concurrent Symposia 1 phomagenesis.
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cover cryptic mutations in Drosophi
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Concurrent Sessions first excluded
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Concurrent Sessions of 210 ancestry
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Concurrent Sessions C23. Literature
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Concurrent Sessions a boy with a ty
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Concurrent Sessions C40. Mutation o
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Concurrent Sessions C48. CHROMSCAN:
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Concurrent Sessions C57. RNAi-based
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Concurrent Sessions been replicated
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Concurrent Sessions involved in an
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Concurrent Sessions tion considers
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Clinical genetics lateral neurosens
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Clinical genetics apparently sporad
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Clinical genetics itar syndrome, wh
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Clinical genetics diseases, Foundat
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Clinical genetics P0041. The first
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Clinical genetics EFNB1 was found t
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Clinical genetics of the CSB gene.
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Clinical genetics growth retardatio
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Clinical genetics PCR with a modifi
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Clinical genetics pound heterozygou
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Clinical genetics plicated: two cou
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Clinical genetics P0105. APC gene m
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Clinical genetics an indication of
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Clinical genetics great importance
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Clinical genetics P0133. Hidrotic e
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Clinical genetics eight patients as
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Clinical genetics P0152. Kabuki syn
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Clinical genetics P0161. Intrafamil
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Clinical genetics matter and normal
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Clinical genetics type at 550 bands
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Clinical genetics will be confirmed
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Clinical genetics nosed. Accurate r
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Clinical genetics which has not bee
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Clinical genetics P0217. Partial mo
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Clinical genetics fested progeroid
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Clinical genetics A 29 years old ma
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Clinical genetics ing loss (HHL). I
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Clinical genetics dació Son Llatze
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Clinical genetics These preliminary
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Clinical genetics P0272. Williams S
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Cytogenetics Po02. Cytogenetics P02
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Cytogenetics to reports from Saudi
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Cytogenetics P0298. Female-specific
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Cytogenetics P0306. Lipoatrophic pa
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Cytogenetics 22 leading to the form
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Cytogenetics somal sperm and that o
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Cytogenetics University of Belgrade
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Cytogenetics Within the same metaph
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Cytogenetics Less than 10 cases of
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Cytogenetics lar markers taken from
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Cytogenetics Brain Unaffected Schiz
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Cytogenetics ability with no speech
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Cytogenetics P0389. An age based cy
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Cytogenetics P0399. Molecular Chara
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Cytogenetics ing of complex examina
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Cytogenetics letion in 5q33 in all
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Cytogenetics and his son carried th
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Prenatal diagnosis tion about famil
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Prenatal diagnosis P0443. The risk
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Prenatal diagnosis in house PCR pro
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Prenatal diagnosis P0462. Increased
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Prenatal diagnosis P0471. Preimplan
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Prenatal diagnosis agreement with w
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Prenatal diagnosis of Turner Syndro
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Cancer genetics ously defined for d
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Cancer genetics Their frequencies w
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Cancer genetics tion Clinic-Portugu
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Cancer genetics tric carcinogenesis
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Cancer genetics P0532. Secondary ch
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Cancer genetics P0542. Differential
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Cancer genetics gastric cancer risk
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Cancer genetics ania, 3 The Institu
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Cancer genetics low: 8% (8/98 sampl
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Cancer genetics P0578. Somatic mito
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Cancer genetics P0587. Differential
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Cancer genetics cinoma (ESCC), whic
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Cancer genetics method to measure t
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Cancer genetics pression (compared
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Cancer genetics to available biolog
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Molecular and biochemical basis of
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Page 185 and 186: Molecular and biochemical basis of
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Normal variation, population geneti
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Genomics, technology, bioinformatic
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Genetic counselling, education, gen
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Therapy for genetic disease Po10. T
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Therapy for genetic disease P1405.
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Therapy for genetic disease exon 7
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Author Index 1 Arslan-Krichner, M.:
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Author Index Borkowska, A.: P1089 B
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Author Index Coviello, D.: P0078, P
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Author Index Estivill, X.: P1216, P
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Author Index Graf, S. A.: P0021 Gra
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Author Index 1 Josifiova, D.: PL07
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Author Index Laurier, V.: C03 Lauri
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Author Index Melo, D. G.: P0260, P0
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Author Index Osorio, P.: P0218 Osta
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Author Index Reese, T.: C06 Regal,
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Author Index 1 Shaposhnikov, S.: P0
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Author Index Touitou, I.: P0733 Tou
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Author Index Xiao, C.: P1241 Xie, G
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Keyword Index ARMR: P0907 array CGH
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Keyword Index Consanguineous marria
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Keyword Index 1 Fronto-temporal dem
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Keyword Index IRF5: P1086 IRF6: P07
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Keyword Index NBS1 gene: P0567 NBS-
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Keyword Index P1085 Rep1: P1104 rep
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Keyword Index vision: P0632 Vitamin
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Notes 1
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A natural choice in Fabry Disease P
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European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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