Biomaterial Database

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment. 2007

E Van Eyken, and G Van Camp, and E Fransen, and V Topsakal, and J J Hendrickx, and K Demeester, and P Van de Heyning, and E Mäki-Torkko, and S Hannula, and M Sorri, and M Jensen, and A Parving, and M Bille, and M Baur, and M Pfister, and A Bonaconsa, and M Mazzoli, and E Orzan, and A Espeso, and D Stephens, and K Verbruggen, and J Huyghe, and I Dhooge, and P Huygen, and H Kremer, and C W R J Cremers, and S Kunst, and M Manninen, and I Pyykkö, and A Lacava, and M Steffens, and T F Wienker, and L Van Laer

Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

BACKGROUND Age-related hearing impairment (ARHI) is the most common sensory impairment in older people, affecting 50% of those aged 80 years. The proportion of older people is increasing in the general population, and as a consequence, the number of people affected with ARHI is growing. ARHI is a complex disorder, with both environmental and genetic factors contributing to the disease. The first studies to elucidate these genetic factors were recently performed, resulting in the identification of the first two susceptibility genes for ARHI, NAT2 and KCNQ4. METHODS In the present study, the association between ARHI and polymorphisms in genes that contribute to the defence against reactive oxygen species, including GSTT1, GSTM1 and NAT2, was tested. Samples originated from seven different countries and were combined into two test population samples, the general European population and the Finnish population. Two distinct phenotypes for ARHI were studied, Z(low) and Z(high), representing hearing in the low and high frequencies, respectively. Statistical analysis was performed for single polymorphisms (GSTM1, GSTT1, NAT2*5A, NAT2*6A, and NAT2*7A), haplotypes, and gene-environment and gene-gene interactions. RESULTS We found an association between ARHI and GSTT1 and GSTM1 in the Finnish population sample, and with NAT2*6A in the general European population sample. The latter finding replicates previously published data. CONCLUSIONS As replication is considered the ultimate proof of true associations in the study of complex disorders, this study provides further support for the involvement of NAT2*6A in ARHI.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D004777	Environment	The external elements and conditions which surround, influence, and affect the life and development of an organism or population.	Environmental Impact,Environmental Impacts,Impact, Environmental,Impacts, Environmental,Environments
D004843	Epistasis, Genetic	A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.	Deviation, Epistatic,Epistatic Deviation,Genes, Epistatic,Genes, Hypostatic,Epistases, Genetic,Gene-Gene Interaction, Epistatic,Gene-Gene Interactions, Epistatic,Genetic Epistases,Genetic Epistasis,Interaction Deviation,Non-Allelic Gene Interactions,Epistatic Gene,Epistatic Gene-Gene Interaction,Epistatic Gene-Gene Interactions,Epistatic Genes,Gene Gene Interaction, Epistatic,Gene Gene Interactions, Epistatic,Gene Interaction, Non-Allelic,Gene Interactions, Non-Allelic,Gene, Epistatic,Gene, Hypostatic,Hypostatic Gene,Hypostatic Genes,Interaction, Epistatic Gene-Gene,Interaction, Non-Allelic Gene,Interactions, Epistatic Gene-Gene,Interactions, Non-Allelic Gene,Non Allelic Gene Interactions,Non-Allelic Gene Interaction
D005060	Europe	The continent north of AFRICA, west of ASIA and east of the ATLANTIC OCEAN.	Northern Europe,Southern Europe,Western Europe
D005260	Female		Females
D005387	Finland	A country in northern Europe, bordering the Baltic Sea, Gulf of Bothnia, and Gulf of Finland, between Sweden and Russia. The capital is Helsinki.	Aland Islands,Åland Islands
D005787	Gene Frequency	The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.	Allele Frequency,Genetic Equilibrium,Equilibrium, Genetic,Allele Frequencies,Frequencies, Allele,Frequencies, Gene,Frequency, Allele,Frequency, Gene,Gene Frequencies
D005982	Glutathione Transferase	A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.	Glutathione S-Alkyltransferase,Glutathione S-Aryltransferase,Glutathione S-Epoxidetransferase,Ligandins,S-Hydroxyalkyl Glutathione Lyase,Glutathione Organic Nitrate Ester Reductase,Glutathione S-Transferase,Glutathione S-Transferase 3,Glutathione S-Transferase A,Glutathione S-Transferase B,Glutathione S-Transferase C,Glutathione S-Transferase III,Glutathione S-Transferase P,Glutathione Transferase E,Glutathione Transferase mu,Glutathione Transferases,Heme Transfer Protein,Ligandin,Yb-Glutathione-S-Transferase,Glutathione Lyase, S-Hydroxyalkyl,Glutathione S Alkyltransferase,Glutathione S Aryltransferase,Glutathione S Epoxidetransferase,Glutathione S Transferase,Glutathione S Transferase 3,Glutathione S Transferase A,Glutathione S Transferase B,Glutathione S Transferase C,Glutathione S Transferase III,Glutathione S Transferase P,Lyase, S-Hydroxyalkyl Glutathione,P, Glutathione S-Transferase,Protein, Heme Transfer,S Hydroxyalkyl Glutathione Lyase,S-Alkyltransferase, Glutathione,S-Aryltransferase, Glutathione,S-Epoxidetransferase, Glutathione,S-Transferase 3, Glutathione,S-Transferase A, Glutathione,S-Transferase B, Glutathione,S-Transferase C, Glutathione,S-Transferase III, Glutathione,S-Transferase P, Glutathione,S-Transferase, Glutathione,Transfer Protein, Heme,Transferase E, Glutathione,Transferase mu, Glutathione,Transferase, Glutathione,Transferases, Glutathione
D006239	Haplotypes	The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.	Haplotype