Noemi Polgar

Publications (4)8.89 Total impact

• Article: Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

  Kinga Hadzsiev, Noemi Polgar, Judit Bene, Katalin Komlosi, Judit Karteszi, Katalin Hollody, Gyorgy Kosztolanyi, Alessandra Renieri, Bela Melegh
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  ABSTRACT: Rett syndrome (RTT) is characterized by a relatively specific clinical phenotype. We screened 152 individuals with RTT phenotype. A total of 22 different known MECP2 mutations were identified in 42 subjects (27.6%). Of the 22 mutations, we identified 7 (31.8%) frameshift-causing deletions, 4 (18.2%) nonsense, 10 (45.5%) missense mutations and one insertion (4.5%). The most frequent pathologic changes were: p.Thr158Met (14.2%) and p.Arg133Cys (11.9%) missense, and p.Arg255Stop (9.5%) and p.Arg294Stop (9.5%) nonsense mutations. We also detected the c.925C >T (p.Arg309Trp) mutation in an affected patient, whose role in RTT pathogenesis is still unknown. Patients without detectable MECP2 defects were screened for mutations of cyclin-dependent kinase-like 5 (CDKL5) gene, responsible for the early-onset variant of RTT. We discovered two novel mutations: c.607G >T resulting in a termination codon at aa203, disrupting the catalytic domain, and c.1708G >T leading to a stop at aa570 of the C terminus. Both patients with CDKL5 mutation presented therapy-resistant epilepsy and a phenotype fitting with the diagnosis of early-onset variant of RTT. No FOXG1 mutation was detected in any of the remaining patients. A total of 110 (72.5%) patients remained without molecular genetic diagnosis that necessitates further search for novel gene mutations in this phenotype. Our results also suggest the need of screening for CDKL5 mutations in patients with Rett phenotype tested negative for MECP2 mutations.
  Journal of Human Genetics 12/2010; 56(3):183-7. · 2.57 Impact Factor
• Source

  Available from: Péter Kisfali

  Article: Cytotoxic T lymphocyte-Associated Antigen +49G Variant Confers Risk for Anti-CCP- and Rheumatoid Factor-Positive Type of Rheumatoid Arthritis Only in Combination with CT60G Allele.

  Bernadett Farago, Peter Kisfali, Lili Magyari, Noemi Polgar, Bela Melegh
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  ABSTRACT: Controversial observations have been published on the association of the cytotoxic T lymphocyte associated antigen gene's variants with rheumatoid arthritis (RA). After genotyping 428 patients and 230 matched controls, the prevalence of the CT60(∗)G allele was more frequent in RF- and/or anti-CCP-seropositive RApatients, compared to the healthy controls (P < .001). Regression analysis revealed that the CT60(∗)G allele is a possible predisposing factor for RA in these subgroups. No accumulation of the +49(∗)G allele was found among patients, and this variant was not found to correlate with RA. Assaying the possible genotype variations, the +49(∗)G-CT60(∗)G allelic combination was accumulated in seropositive RA-subtypes, and was associated with the risk of RA (OR = 1.73, P = .001 for the whole RA-population). Although the +49(∗)G allele did not mean a predisposition to RA alone, in combination with CT60(∗)G it, also conferred risk, suggesting that the +49A/G variant is associated with the risk of RA only in certain haplotypes.
  Autoimmune diseases. 01/2010; 2010:285974.
• Article: Vitamin K epoxide reductase complex 1 (VKORC1) haplotypes in healthy Hungarian and Roma population samples.

  Csilla Sipeky, Veronika Csongei, Luca Jaromi, Eniko Safrany, Noemi Polgar, Lilla Lakner, Melinda Szabo, Istvan Takacs, Bela Melegh
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  ABSTRACT: The aim of this work was to determine the VKORC1 haplotype profile in healthy Hungarian and Roma population samples, and to compare our data with other selected populations. Using haplotype tagging SNPs (G-1639A, G9041A and C6009T), we characterized Hungarian (n = 510) and Roma (n = 451) population samples with regard to VKORC1*1, *2, *3 and *4 haplotypes. In the Hungarian samples, the VKORC1*1, *2, *3 and *4 haplotypes accounted for 3, 39, 37 and 21%, respectively and by contrast, in the Roma population samples the VKORC1 variants were 5, 30, 46 and 19%, respectively. Comparing the genotypes of Roma and Hungarian populations, difference was found in the *2/*2 (6.87 vs 13.5%), *2/*4 (13.9 vs 19.2%) and *3*3 (21.9 vs 13.7%) VKORC1 haplotype combinations. Comparing each group with the others, and our data with findings published previously by other groups, the VKORC1 genetic profile in Hungarians was more similar to European Caucasians and Americans with European descent than to Roma samples. Clear differences could be detected between Roma versus Hungarians and European or American Caucasians; the Roma population had only minor similarities with data from India.
  Pharmacogenomics 07/2009; 10(6):1025-32. · 3.97 Impact Factor
• Article: Interethnic differences of CYP2C9 alleles in healthy Hungarian and Roma population samples: relationship to worldwide allelic frequencies.

  Csilla Sipeky, Lilla Lakner, Melinda Szabo, Istvan Takacs, Viola Tamasi, Noemi Polgar, Andras Falus, Bela Melegh
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  ABSTRACT: CYP2C9 gene polymorphisms are widely studied in several ethnic groups, however they are less known in the Roma population. The aim of this work was to study the ethnic differences of the CYP2C9 allele distribution in a healthy Roma population in order to compare them with a healthy Hungarian population. A total of 535 Hungarian and 465 Roma volunteers were genotyped for the CYP2C9*2 (Arg144Cys) and CYP2C9*3 (Ile359Leu) allelic variants by PCR-RFLP assay. The frequencies of the CYP2C9*1, *2 and *3 alleles in the Hungarian population were 0.787, 0.125, and 0.088 and in Roma 0.727, 0.118, and 0.155, respectively. We found a significant difference in CYP2C9*3 prevalence between the Hungarian and Roma populations, which have therapeutic consequences (p<0.005). The distribution of *1/*1, *1/*2, *1/*3, *2/*2, *2/*3, and *3/*3 genotypes in Hungarians were 0.620, 0.195, 0.139, 0.021, 0.015, and 0.011, while in Roma were 0.533, 0.168, 0.219, 0.011, 0.047, and 0.022, respectively. A significant difference was found between the Hungarian and Roma populations regarding the *1/*1, *1/*3 and the *2/*3 (p<0.005) genotypes. This is the first study to investigate the polymorphisms of CYP2C9 gene in the two largest populations in Hungary, healthy Hungarians and Roma. The prevalence of variant CYP2C9 alleles in the Hungarian population is similar to that observed in other European populations. In contrast, the Roma population differs from Hungarians, from most of other Caucasian groups, and from Indians in the incidence of CYP2C9 common variants. The difference in allele distribution patterns between the two populations studied has therapeutic implications as it influences the optimization of therapies.
  Blood Cells Molecules and Diseases 06/2009; 43(3):239-42. · 2.35 Impact Factor