title: A conserved linkage group on chromosome 6, the 8.1 ancestral haplotype, is a predisposing factor of chronic rhinosinusitis associated with nasal polyposis in aspirin-sensitive Hungarians.
abstract: Inflammation plays a central role in the pathogenesis of chronic rhinosinusitis (CRS), and TNFα is a key pro-inflammatory cytokine in the pathogenesis of this disease. In our previous studies, we showed that the TNFA -308A allele is a genetic predisposition factor in a subgroup of aspirin-sensitive (ASA+) CRS patients suffering from nasal polyps (NP) in the Hungarian population. To determine whether the TNF -308A allele or the presence of a complex, extended ancestral haplotype (8.1AH) located on chromosome 6 is responsible for the previously observed genetic effect, we performed a case-control study for examining the frequency of 8.1AH carriers in controls and in subgroups of CRS patients. Our novel observations demonstrate that the presence of the 8.1AH may be responsible for the development of severe forms of CRS (CRSwNP, ASA+) and strengthen the clinical observation that CRS patients can be classified into clinically and genetically different subgroups.
authors.affiliation: MTA-SZTE Dermatological Research Group, Szeged, Hungary. Electronic address: szabo.kornelia@med.u-szeged.hu.
authors.forename: Kornélia
authors.initials: K
authors.lastname: Szabó
authors.affiliation: MTA-SZTE Dermatological Research Group, Szeged, Hungary.
authors.forename: Hilda
authors.initials: H
authors.lastname: Polyánka
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, University of Szeged, Szeged, Hungary.
authors.forename: Ágnes
authors.initials: Á
authors.lastname: Kiricsi
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, Semmelweis University, Faculty of Medicine, Budapest, Hungary.
authors.forename: Mónika
authors.initials: M
authors.lastname: Révész
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, University of Pécs, Faculty of Medicine, Pécs, Hungary.
authors.forename: Ida
authors.initials: I
authors.lastname: Vóna
authors.affiliation: Borsod-Abaúj-Zemplén Country Hospital and University Teaching Hospital, Miskolc, Hungary.
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Szabó
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, University of Szeged, Szeged, Hungary.
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Bella
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, University of Szeged, Szeged, Hungary.
authors.forename: Edit
authors.initials: E
authors.lastname: Kadocsa
authors.affiliation: MTA-SZTE Dermatological Research Group, Szeged, Hungary; Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary.
authors.forename: Lajos
authors.initials: L
authors.lastname: Kemény
authors.affiliation: MTA-SZTE Dermatological Research Group, Szeged, Hungary; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
authors.forename: Márta
authors.initials: M
authors.lastname: Széll
authors.affiliation: Department of Otorhinolaryngology, St. John's and North-Buda Hospitals, Budapest, Hungary.
authors.forename: Andor
authors.initials: A
authors.lastname: Hirschberg
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001241:Aspirin / Q000009:adverse effects*; D016022:Case-Control Studies; D002896:Chromosomes, Human, Pair 6; D002908:Chronic Disease; D005787:Gene Frequency; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D006814:Hungary; D037102:Lectins / Q000235:genetics; D008875:Middle Aged; D009298:Nasal Polyps / Q000150:complications / Q000209:etiology*; D000067759:Receptor for Advanced Glycation End Products / Q000235:genetics; D012220:Rhinitis / Q000150:complications / Q000209:etiology*; D012852:Sinusitis / Q000150:complications / Q000209:etiology*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics; D055815:Young Adult
chemical_list: D018840:HSP70 Heat-Shock Proteins; C525621:HSPA1B protein, human; D037102:Lectins; D000067759:Receptor for Advanced Glycation End Products; C439524:TNF protein, human; D014409:Tumor Necrosis Factor-alpha; C027112:fucose-binding lectin; D001241:Aspirin
keywords: 8.1 ancestral haplotype (8.1AH); Chronic rhinosinusitis (CRS); Nasal polyp (NP); Single nucleotide polymorphism (SNP)