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Thomas J Hoffmann, Bronya J Keats, Noriko Yoshikawa, Catherine Schaefer, Neil Risch, Lawrence R Lustig
Age-related hearing impairment (ARHI), one of the most common sensory disorders, can be mitigated, but not cured or eliminated. To identify genetic influences underlying ARHI, we conducted a genome-wide association study of ARHI in 6,527 cases and 45,882 controls among the non-Hispanic whites from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. We identified two novel genome-wide significant SNPs: rs4932196 (odds ratio = 1.185, p = 4.0x10-11), 52Kb 3' of ISG20, which replicated in a meta-analysis of the other GERA race/ethnicity groups (1,025 cases, 12,388 controls, p = 0...
October 2016: PLoS Genetics
Qiuyue Yang, Xiangrong Xu, Jie Jiao, Yuxin Zheng, Lihua He, Shanfa Yu, Guizhen Gu, Guoshun Chen, Wenhui Zhou, Hui Wu, Yanhong Li, Huanling Zhang, Zengrui Zhang
OBJECTIVES: Noise-induced hearing loss is one of the most serious occupational diseases worldwide. It is caused by interactions between environmental and genetic factors. The purpose of this study was to examine the association between the genetic susceptibility of the eye absent homolog 4 (EYA4) gene and the risk of developing noise-induced hearing loss in China. METHODS: A case-control association study was carried out with 326 hearing loss cases and 326 controls matched with age and duration of noise exposure, drawn from a cohort of steel workers...
December 2016: Occupational and Environmental Medicine
Yue Fan, Ying Zhang, Rimao Wu, Xingming Chen, Yong Zhang, Xiaowei Chen, Dahai Zhu
To understand the relationship between microRNAs and hearing loss and help clarify the causes of hereditary deafness, we studied the functions of miR-431 in cochleae. We first investigated the spatial-temporal expression profiles of miR-431 in spiral ganglion neurons (SGNs) in cochleae using real-time PCR and miRNA in situ hybridization. These studies showed that expression of miR-431 was high in SGNs in the cochleae of newborn mice, and decreased as development progressed. To test the functional effects of miR-431, we established miR-431 overexpressing transgenic (Tg) mice...
November 2016: Biochimica et Biophysica Acta
Xiao-Yi Hao, Jian-Peng Cai, Xin Liu, Wei Chen, Xun Hou, Dong Chen, Jia-Ming Lai, Li-Jian Liang, Xiao-Yu Yin
BACKGROUND: The molecular prognostic markers and carcinogenesis of intrahepatic cholangiocarcinoma (ICC) have not been well documented. The purpose of this study was to investigate the prognostic value of the eyes absent homolog 4 (EYA4) gene in ICC and its biological effects on ICC growth in vitro and in vivo. METHODS: One hundred twelve patients with ICC who underwent hepatectomy were enrolled in the study. EYA4 mRNA and EYA4 protein levels in ICC and adjacent non-tumoral tissues were evaluated using real-time quantitative polymerase chain reaction and immunohistochemical staining, respectively...
2016: Chinese Journal of Cancer
Shi-Jing Mo, Xin Liu, Xiao-Yi Hao, Wei Chen, Kun-Song Zhang, Jian-Peng Cai, Jia-Ming Lai, Li-Jian Liang, Xiao-Yu Yin
Eye absent homolog 4 (EYA4) was initially found as key gene in controlling eye development in Drosophila. We recently found that EYA4 was an independent prognostic factor in hepatocellular carcinoma. Its biological functions in malignancies remained unknown. The present study aimed at investigating its biological functions, molecular mechanisms and prognostic values in pancreatic ductal adenocarcinoma (PDAC). Overexpression of EYA4 in PDAC cells inhibited proliferation and invasion in vitro and tumor growth in vivo...
October 1, 2016: Cancer Letters
Sai Huang, Meng-Meng Jiang, Guo-Feng Chen, Kun Qian, Hong-Hao Gao, Wei Guan, Jin-Long Shi, An-Qi Liu, Jing Liu, Bian-Hong Wang, Yong-Hui Li, Li Yu
BACKGROUND: The acute myeloid leukemia 1 (AML1)-eight-twenty-one (ETO) fusion protein generated by the t(8;21)(q22;q22) translocation is considered to display a crucial role in leukemogenesis in AML. By focusing on the anti-leukemia effects of eyes absent 4 (EYA4) gene on AML cells, we investigated the biologic and molecular mechanism associated with AML1-ETO expressed in t(8;21) AML. METHODS: Qualitative polymerase chain reaction (PCR), quantitative reverse transcription PCR (RT-PCR), and Western blotting analysis were used to observe the mRNA and protein expression levels of EYA4 in cell lines...
June 5, 2016: Chinese Medical Journal
Wenjun Xia, Fei Liu, Duan Ma
Hearing impairment is considered as the most prevalent impairment worldwide. Almost 600 million people in the world suffer from mild or moderate hearing impairment, an estimated 10% of the human population. Genetic factors play an important role in the pathogenesis of this disorder. Hereditary hearing loss is divided into syndromic hearing loss (associated with other anomalies) and non-syndromic hearing loss (not associated with other anomalies). Approximately 80% of genetic deafness is non-syndromic. On the basis of the frequency of hearing loss, hereditary non-syndromic hearing loss can be divided into high-, mid-, low-, and total-frequency hearing loss...
June 2016: Frontiers of Medicine
Rebecca Towle, Danielle Truong, Cathie Garnis
Five-year survival rates for oral squamous cell carcinoma (OSCC) have remained at a dismal 50% for the past several decades. Molecular analyses of premalignant tissues are a key means of identifying early foundational drivers of disease, which may be exploitable as biomarkers or therapeutic targets for improving disease outcomes. We previously identified EYA4 as frequently hypermethylated and silenced in premalignant disease based on an analysis of lesion-adjacent normal, dysplasia, and carcinoma in situ/squamous cell carcinoma tissues from the oral cavity...
July 2016: Genes, Chromosomes & Cancer
Tatjana Williams, Moritz Hundertmark, Peter Nordbeck, Sabine Voll, Paula Anahi Arias-Loza, Daniel Oppelt, Melanie Mühlfelder, Susanna Schraut, Ines Elsner, Martin Czolbe, Lea Seidlmayer, Britta Heinze, Stefanie Hahner, Katrin Heinze, Jost Schönberger, Peter Jakob, Oliver Ritter
BACKGROUND: E193, a heterozygous truncating mutation in the human transcription cofactor Eyes absent 4 (Eya4), causes hearing impairment followed by dilative cardiomyopathy. METHODS AND RESULTS: In this study, we first show Eya4 and E193 alter the expression of p27(kip1) in vitro, suggesting Eya4 is a negative regulator of p27. Next, we generated transgenic mice with cardiac-specific overexpression of Eya4 or E193. Luciferase and chromatin immunoprecipitation assays confirmed Eya4 and E193 bind and regulate p27 expression in a contradictory manner...
December 2015: Circulation. Cardiovascular Genetics
Carla Rosenberg, Érika L Freitas, Daniela T Uehara, Maria Teresa B M Auricchio, Silvia S Costa, Jeanne Oiticica, Amanda G Silva, Ana C Krepischi, Regina C Mingroni-Netto
Genetic heterogeneity has made the identification of genes related to hearing impairment a challenge. In the absence of a clear phenotypic aetiology, recurrence risk estimates are often based on family segregation and may be imprecise. We profiled by oligonucleotide array-CGH patients presenting non-syndromic hearing loss with presumptive autosomal recessive (n = 50) or autosomal dominant (n = 50) patterns of inheritance. Rare copy number variants (CNVs) were detected in 12 probands; four of the detected CNVs comprised genes previously associated with hearing loss (POU4F3, EYA4, USH2A, BCAP31) and were considered causative, stressing the contribution of genomic imbalance to non-syndromic deafness...
October 12, 2015: Clinical Genetics
Xuhui Zhang, Yi Liu, Lei Zhang, Zhangping Yang, Luoxian Yang, Xuchu Wang, CaiXia Jiang, Qiang Wang, Yuyong Xia, Yanjuan Chen, Ou Wu, Yimin Zhu
BACKGROUND: Both environmental and genetic factors are attributable to the incidence of noise-induced hearing loss (NIHL). The purpose of this study was to examine the associations between genetic variations in the EYA4, GRHL2 and DFNA5 genes and the risk to noise-induced hearing loss (NIHL) in a Chinese population. METHODS: A case-control study was conducted with 476 NIHL workers and 475 normal hearing workers matched with gender, years of noise exposure, and intensity of noise exposure...
2015: Environmental Health: a Global Access Science Source
Eline van Beelen, Anne M M Oonk, Joop M Leijendeckers, Elisabeth H Hoefsloot, Ronald J E Pennings, Ilse Feenstra, Hendrik-Jan Dieker, Patrick L M Huygen, Ad F M Snik, Hannie Kremer, Henricus P M Kunst
OBJECTIVES: Mutations in EYA4 can cause nonsyndromic autosomal dominant sensorineural hearing impairment (DFNA10) or a syndromic variant with hearing impairment and dilated cardiomyopathy. A mutation in EYA4 was found in a Dutch family, causing DFNA10. This study is focused on characterizing the hearing impairment in this family. DESIGN: Whole exome sequencing was performed in the proband. In addition, peripheral blood samples were collected from 23 family members, and segregation analyses were performed...
January 2016: Ear and Hearing
Hyun Seok Choi, Ah Reum Kim, Shin Hye Kim, Byung Yoon Choi
The EYA4 gene encodes a 640-amino-acid protein that serves as a transcription factor. This protein contains a highly conserved Eya domain (eya-HR) and a variable domain (eya-VR). Mutations of this gene are known to cause postlingual and progressive sensorineural hearing loss, either as non-syndromic (DFNA10) or syndromic hearing loss, depending on the location of truncation of the mutant protein. Since our previous report, we have recruited 14 families segregating autosomal dominant moderate SNHL. A thorough medical history and physical examination including evaluation of heart problems ruled out any syndromic features in these families...
May 2016: European Archives of Oto-rhino-laryngology
Aiping Huang, Yongyi Yuan, Yanping Liu, Qingwen Zhu, Pu Dai
BACKGROUND: Hereditary hearing loss is a heterogeneous class of disorders showing various patterns of inheritance and involving many genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. METHODS: We report on a Chinese family with sensorineural, progressive hearing loss. Next-generation sequencing (NGS) was conducted using DNA samples from this family. A candidate mutation was confirmed by Sanger sequencing...
2015: Journal of Translational Medicine
Fei Liu, Jiongjiong Hu, Wenjun Xia, Lili Hao, Jing Ma, Duan Ma, Zhaoxin Ma
Autosomal dominant non-syndromic hearing loss is highly heterogeneous, and eyes absent 4 (EYA4) is a disease-causing gene. Most EYA4 mutations founded in the Eya-homologous region, however, no deafness causative missense mutation in variable region of EYA4 have previously been found. In this study, we identified a pathogenic missense mutation located in the variable region of the EYA4 gene for the first time in a four-generation Chinese family with 57 members. Whole-exome sequencing (WES) was performed on samples from one unaffected and two affected individuals to systematically search for deafness susceptibility genes, and the candidate mutations and the co-segregation of the phenotype were verified by polymerase chain reaction amplification and by Sanger sequencing in all of the family members...
2015: PloS One
Yi Sun, Zhao Zhang, Jing Cheng, Yu Lu, Chang-Liang Yang, Yan-Yun Luo, Guang Yang, Hui Yang, Li Zhu, Jia Zhou, Hang-Qi Yao
The middle-frequency sensorineural hearing loss (MFSNHL) is rare among hereditary non-syndromic hearing loss. To date, only three genes are reported to be associated with MFSNHL, including TECTA, EYA4 and COL11A2. In this report, we analyzed and explored the clinical audiological characteristics and the causative gene of a Chinese family named HG-Z087 with non-syndromic autosomal dominant inherited MFSNHL. Clinical audiological characteristics and inheritance pattern of a family were evaluated, and pedigree was drawn based on medical history investigation...
June 2015: Journal of Human Genetics
Ye-Ri Kim, Min-A Kim, Borum Sagong, Seung-Hyun Bae, Hyo-Jeong Lee, Hyung-Jong Kim, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim
EYA4 and GRHL2 encode transcription factors that play an important role in regulating many developmental stages. Since EYA4 and GRHL2 were identified as the transcription factors for the DFNA10 and DFNA28, 8 EYA4 mutations and 2 GRHL2 mutations have been reported worldwide. However, these genes have been reported in few studies of the Korean population. In this study, we performed a genetic analysis of EYA4 and GRHL2 in 87 unrelated Korean patients with autosomal dominant non-syndromic hearing loss (NSHL). A total of 4 genetic variants in the EYA4 gene were identified, including the 2 nonsense mutations p...
2015: PloS One
Carina Frykholm, Joakim Klar, Hanna Arnesson, Anna-Carin Rehnman, Marianne Lodahl, Ulla Wedén, Niklas Dahl, Lisbeth Tranebjærg, Nanna D Rendtorff
Linkage to an interval overlapping the DFNA10 locus on chromosome 6q22-23 was found through genome wide linkage analysis in a seven-generation Swedish family segregating postlingual, autosomal dominant nonsyndromic sensorineural hearing impairment. A novel heterozygous frame-shift mutation (c.579_580insTACC, p.(Asp194Tyrfs*52)) in EYA4 was identified that truncates the so-called variable region of the protein. The mutation is predicted to result in haploinsufficiency of the EYA4 product. No evidence for dilated cardiomyopathy was found in the family, contrasting to a previous family with a deletion resulting in a similar truncation in the variable region...
May 25, 2015: Gene
Sung-Jin Kim, Chung Hyun Tae, Sung Noh Hong, Byung-Hoon Min, Dong Kyung Chang, Poong-Lyul Rhee, Jae J Kim, Hee Cheol Kim, Duk-Hwan Kim, Young-Ho Kim
A previous genome-wide methylation array for colorectal cancer (CRC) identified aberrant promoter methylation of eyes absent 4 (EYA4). However, the correlations between EYA4 methylation and gene expression, the role played by EYA4 protein in colorectal carcinogenesis, and results of the gene-enrichment and functional annotation analysis have not yet been established. We analyzed the EYA4 methylation status and found EYA4 promoter methylation in CRC cell lines (100%), CRC tissues (93.5%) and advanced adenoma tissues (50...
December 2015: Molecular Carcinogenesis
Kathleen Conway, Sharon N Edmiston, Ryan May, Pei Fen Kuan, Haitao Chu, Christopher Bryant, Chiu-Kit Tse, Theresa Swift-Scanlan, Joseph Geradts, Melissa A Troester, Robert C Millikan
INTRODUCTION: Breast cancer is a heterogeneous disease, with several intrinsic subtypes differing by hormone receptor (HR) status, molecular profiles, and prognosis. However, the role of DNA methylation in breast cancer development and progression and its relationship with the intrinsic tumor subtypes are not fully understood. METHODS: A microarray targeting promoters of cancer-related genes was used to evaluate DNA methylation at 935 CpG sites in 517 breast tumors from the Carolina Breast Cancer Study, a population-based study of invasive breast cancer...
2014: Breast Cancer Research: BCR
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