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001-es BibID:	bibEBI00021206
Első szerző:	Hilgert, Nele
Cím:	Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene / Hilgert N., Huentelman M.J., Thorburn A.Q., Fransen E., Dieltjens N., Mueller-Malesinska M., Pollak A., Skorka A., Waligora J., Ploski R., Castorina P., Primignani P., Ambrosetti U., Murgia A., Orzan E., Pandya A., Arnos K., Norris V., Seeman P., Janousek P., Feldmann D., Marlin S., Denoyelle F., Nishimura C.J., Janecke A., Nekahm-Heis D., Martini A., Mennucci E., Tóth T., Sziklai I., Del Castillo I., Moreno F., Petersen M.B., Iliadou V., Tekin M., Incesulu A., Nowakowska E., Bal J., Van de Heyning P., Roux A. F., Blanchet C., Goizet C., Lancelot G., Fialho G., Caria H., Liu X.Z., Xiaomei O., Govaerts P., Gronskov K., Hostmark K., Frei K., Dhooge I., Vlaeminck S., Kunstmann E., Van Laer L., Smith R.J., Van Camp G.
Dátum:	2009
Megjegyzések:	Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound. We hypothesise that this phenotypic variability is at least partly caused by the influence of modifier genes. By performing a whole-genome association (WGA) study on 35delG homozygotes, we sought to identify modifier genes. The association study was performed by comparing the genotypes of mild/moderate cases and profound cases. The first analysis included a pooling-based WGA study of a first set of 255 samples by using both the Illumina 550K and Affymetrix 500K chips. This analysis resulted in a ranking of all analysed single-nucleotide polymorphisms (SNPs) according to their P-values. The top 250 most significantly associated SNPs were genotyped individually in the same sample set. All 192 SNPs that still had significant P-values were genotyped in a second independent set of 297 samples for replication. The significant P-values were replicated in nine SNPs, with combined P-values between 3 x 10(-3) and 1 x 10(-4). This study suggests that the phenotypic variability in 35delG homozygous patients cannot be explained by the effect of one major modifier gene. Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban connexin 26 35delG hereditary hearing loss association study modifier gene
Megjelenés:	European Journal of Human Genetics. - 17 : 4 (2009), p. 517-524. -
További szerzők:	Huentelman, Matthew J. Thorburn, Ashley Q. Fransen, Erik Dieltjens, Nele Mueller-Malesinska, Malgorzata Pollak, Agnieszka Skorka, Agata Waligora, Jaroslaw Ploski, Rafal Castorina, Pierangela Primignani, Paola Ambrosetti, Umberto Murgia, Alessandra Orzan, Eva Pandya, Arti Arnos, Kathleen Norris, Virginia Seeman, Pavel Janousek, Petr Feldmann, Delphine Marlin, Sandrine Denoyelle, Francoise Nishimura, Carla J. Janecke, Andreas Nekahm-Heis, Doris Martini, Alessandro Mennucci, Elena Tóth Tímea (1974-) (fül-orr-gégész) Sziklai István (1954-) (fül-orr-gégész) Del Castillo, Ignacio Moreno, Felipe Petersen, Michael B. Iliadou, Vasiliki Tekin, Mustafa Incesulu, Armagan Nowakowska, Ewa Bal, Jerzy Heyning, Paul, van de Roux, Anne-Francoise Blanchet, Catherine Goizet, Cyril Lancelot, Guenaelle Fialho, Graca Caria, Helena Liu, Xue Zhoung Xiaomei, Ouyang Govaerts, Paul Gronskov, Karen Hostmark, Karianne Frei, Klemens Dhooge, Ingeborg Vlaeminck, Stephen Kunstmann, Erdmute Laer, L., Van Smith, Richard J. Camp, Guy, Van
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001-es BibID:	BIBFORM052894
035-os BibID:	PMID: 24643032
Első szerző:	Sommen, Manou
Cím:	Genetic Association Analysis in a Clinically and Histologically Confirmed Otosclerosis Population Confirms Association With the tgfb1 Gene but Suggests an Association of the RELN Gene With a Clinically Indistinguishable Otosclerosis-Like Phenotype / Manou Sommen, Guy Van Camp, Balázs Liktor, Péter Csomor, Erik Fransen, István Sziklai, Isabelle Schrauwen, Tamás Karosi
Dátum:	2014
ISSN:	1531-7129
Megjegyzések:	BACKGROUND/HYPOTHESIS: Otosclerosis is a frequent cause of hearing impairment characterized by abnormal resorption and deposition of bone in the human otic capsule. It is a disease of complex etiopathogenesis that is caused by both environmental and genetic factors. The goal of this study is to replicate association for genes that were previously reported to be associated with otosclerosis. However, in this study, patients were used in which the presence of otosclerotic foci was confirmed by histologic investigation, in contrast to previous studies, that did not use histologic confirmation. METHODS: Case-control association study using 153 cases and 300 controls. Thirteen single nucleotide polymorphisms (SNPs) in 6 genes (COL1A1, TGFB1, BMP2, BMP4, AGT, and RELN) were genotyped. RESULTS: An association between TGFB1 (rs1800472) and otosclerosis was detected, confirming several previous reports. It is surprising that no association was found between RELN and otosclerosis because the current analysis had very reasonable power and the RELN association has been published before in different articles using several independent populations. CONCLUSION: Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis. The fact that other genes did not replicate could be due to different reasons like lack of power (BMP2 and BMP4) and possible false-positive initial association (COL1A1 and AGT). A plausible explanation for the lack of association for RELN is that RELN could be associated with a specific otosclerosis-like phenotype that is different from the histologically confirmed phenotype of the patients in this study, and that is clinically not distinguishable.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Otology & Neurotology. - 35 : 6 (2014), p. 1058-1064. -
További szerzők:	Camp, Guy, Van Liktor Balázs (1984-) Csomor Péter (1984-) (biotechnológus) Fransen, Erik Sziklai István (1954-) (fül-orr-gégész) Schrauwen, Isabelle Karosi Tamás (1979-) (fül-orr-gégész)
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