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The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

Lut Van Laer (UGent) , E VAN EYKEN, E FRANSEN, Jeroen HUYGHE, V TOPSAKAL, JJ HENDRICKX, S HANNULA, E MAKI-TORKKO, M JENSEN, K DEMEESTER, et al.
(2008) HUMAN MOLECULAR GENETICS. 17(2). p.159-169
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Abstract
Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. The contribution of various environmental factors has been relatively extensively studied. In contrast, investigations to identify the genetic risk factors have only recently been initiated. In this paper we describe the results of an association study performed on 2418 ARHI samples derived from nine centers from seven European countries. In 70 candidate genes, a total of 768 tag single nucleotide polymorphisms (SNPs) were selected based on HAPMAP data. These genes were chosen among the monogenic hearing loss genes identified in mice and men in addition to several strong functional candidates. After genotyping and data polishing, statistical analysis of all samples combined resulted in a P-value that survived correction for multiple testing for one SNP in the GRHL2 gene. Other SNPs in this gene were also associated, albeit to a lesser degree. Subsequently, an analysis of the most significant GRHL2 SNP was performed separately for each center. The direction of the association was identical in all nine centers. Two centers showed significant associations and a third center showed a trend towards significance. Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform.

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MLA
Van Laer, Lut, et al. “The Grainyhead like 2 Gene (GRHL2), Alias TFCP2L3, Is Associated with Age-Related Hearing Impairment.” HUMAN MOLECULAR GENETICS, vol. 17, no. 2, Oxford University Press, 2008, pp. 159–69, doi:10.1093/hmg/ddm292.
APA
Van Laer, L., VAN EYKEN, E., FRANSEN, E., HUYGHE, J., TOPSAKAL, V., HENDRICKX, J., … VAN CAMP, G. (2008). The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. HUMAN MOLECULAR GENETICS, 17(2), 159–169. https://doi.org/10.1093/hmg/ddm292
Chicago author-date
Van Laer, Lut, E VAN EYKEN, E FRANSEN, Jeroen HUYGHE, V TOPSAKAL, JJ HENDRICKX, S HANNULA, et al. 2008. “The Grainyhead like 2 Gene (GRHL2), Alias TFCP2L3, Is Associated with Age-Related Hearing Impairment.” HUMAN MOLECULAR GENETICS 17 (2): 159–69. https://doi.org/10.1093/hmg/ddm292.
Chicago author-date (all authors)
Van Laer, Lut, E VAN EYKEN, E FRANSEN, Jeroen HUYGHE, V TOPSAKAL, JJ HENDRICKX, S HANNULA, E MAKI-TORKKO, M JENSEN, K DEMEESTER, M BAUR, A BONACONSA, M MAZZOLI, A ESPESO, KATIA VERBRUGGEN, JOKE HUYGHE, P HUYGEN, S KUNST, M MANNINEN, A KONINGS, AN DIAZ-LACAVA, M STEFFENS, TF WIENKER, I PYYKKO, CWRJ CREMERS, H KREMER, Ingeborg Dhooge, D STEPHENS, E ORZAN, M PFISTER, M BILLE, A PARVING, M SORRI, PH VAN DE HEYNING, and G VAN CAMP. 2008. “The Grainyhead like 2 Gene (GRHL2), Alias TFCP2L3, Is Associated with Age-Related Hearing Impairment.” HUMAN MOLECULAR GENETICS 17 (2): 159–169. doi:10.1093/hmg/ddm292.
Vancouver
1.
Van Laer L, VAN EYKEN E, FRANSEN E, HUYGHE J, TOPSAKAL V, HENDRICKX J, et al. The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment. HUMAN MOLECULAR GENETICS. 2008;17(2):159–69.
IEEE
[1]
L. Van Laer et al., “The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment,” HUMAN MOLECULAR GENETICS, vol. 17, no. 2, pp. 159–169, 2008.
@article{390554,
  abstract     = {{Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. The contribution of various environmental factors has been relatively extensively studied. In contrast, investigations to identify the genetic risk factors have only recently been initiated. In this paper we describe the results of an association study performed on 2418 ARHI samples derived from nine centers from seven European countries. In 70 candidate genes, a total of 768 tag single nucleotide polymorphisms (SNPs) were selected based on HAPMAP data. These genes were chosen among the monogenic hearing loss genes identified in mice and men in addition to several strong functional candidates. After genotyping and data polishing, statistical analysis of all samples combined resulted in a P-value that survived correction for multiple testing for one SNP in the GRHL2 gene. Other SNPs in this gene were also associated, albeit to a lesser degree. Subsequently, an analysis of the most significant GRHL2 SNP was performed separately for each center. The direction of the association was identical in all nine centers. Two centers showed significant associations and a third center showed a trend towards significance. Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform.}},
  author       = {{Van Laer, Lut and VAN EYKEN, E and FRANSEN, E and HUYGHE, Jeroen and TOPSAKAL, V and HENDRICKX, JJ and HANNULA, S and MAKI-TORKKO, E and JENSEN, M and DEMEESTER, K and BAUR, M and BONACONSA, A and MAZZOLI, M and ESPESO, A and VERBRUGGEN, KATIA and HUYGHE, JOKE and HUYGEN, P and KUNST, S and MANNINEN, M and KONINGS, A and DIAZ-LACAVA, AN and STEFFENS, M and WIENKER, TF and PYYKKO, I and CREMERS, CWRJ and KREMER, H and Dhooge, Ingeborg and STEPHENS, D and ORZAN, E and PFISTER, M and BILLE, M and PARVING, A and SORRI, M and VAN DE HEYNING, PH and VAN CAMP, G}},
  issn         = {{0964-6906}},
  journal      = {{HUMAN MOLECULAR GENETICS}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{159--169}},
  publisher    = {{Oxford University Press}},
  title        = {{The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment}},
  url          = {{http://dx.doi.org/10.1093/hmg/ddm292}},
  volume       = {{17}},
  year         = {{2008}},
}
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