The genetic contribution of the X chromosome in age-related hearing loss

Autor: Elnaz Naderi, Diana M. Cornejo-Sanchez, Guangyou Li, Isabelle Schrauwen, Gao T. Wang, Andrew T. Dewan, Suzanne M. Leal

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Age-related (AR) hearing loss (HL) is the most common sensory impairment with heritability of 55%. The aim of this study was to identify genetic variants on chromosome X associated with ARHL through the analysis of data obtained from the UK Biobank.

Externí odkaz: https://doaj.org/article/4d53963c456f47a194dd2ae3d31d2082

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms

Autor: Femke N. G. van ’t Hof, Ynte M. Ruigrok, Cue Hyunkyu Lee, Stephan Ripke, Graig Anderson, Mariza de Andrade, Annette F. Baas, Jan D. Blankensteijn, Erwin P. Böttinger, Matthew J. Bown, Joseph Broderick, Philippe Bijlenga, David S. Carrell, Dana C. Crawford, David R. Crosslin, Christian Ebeling, Johan G. Eriksson, Myriam Fornage, Tatiana Foroud, Mikael von und zu Fraunberg, Christoph M. Friedrich, Emília I. Gaál, Omri Gottesman, Dong‐Chuan Guo, Seamus C. Harrison, Juha Hernesniemi, Albert Hofman, Ituro Inoue, Juha E. Jääskeläinen, Gregory T. Jones, Lambertus A. L. M. Kiemeney, Riku Kivisaari, Nerissa Ko, Seppo Koskinen, Michiaki Kubo, Iftikhar J. Kullo, Helena Kuivaniemi, Mitja I. Kurki, Aki Laakso, Dongbing Lai, Suzanne M. Leal, Hanna Lehto, Scott A. LeMaire, Siew‐Kee Low, Jennifer Malinowski, Catherine A. McCarty, Dianna M. Milewicz, Thomas H. Mosley, Yusuke Nakamura, Hirofumi Nakaoka, Mika Niemelä, Jennifer Pacheco, Peggy L. Peissig, Joanna Pera, Laura Rasmussen‐Torvik, Marylyn D. Ritchie, Fernando Rivadeneira, Andre M. van Rij, Regie Lyn P. Santos‐Cortez, Athanasios Saratzis, Agnieszka Slowik, Atsushi Takahashi, Gerard Tromp, André G. Uitterlinden, Shefali S. Verma, Sita H. Vermeulen, Gao T. Wang, Buhm Han, Gabriël J. E. Rinkel, Paul I. W. de Bakker, Ana Verissimo, Benjamin J. Wright, Suzannah Bumpstead, Solveig Gretarsdottir, Stephen A. Badger, Anne H. Child, Rachel E. Clough, Gillian Cockerill, Hany Hafez, D. Julian A. Scott, Simon Futers, Soroush Sohrabi, Alberto Smith, Matthew M. Thompson, Frank M. van Bockxmeer, Stefan E. Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Joep A. W. Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A. Kiemeney, Jutta Palmen, Andrew J. Smith, Jes S. Lindholt, Declan T. Bradley, Matthew Waltham, Sarah Edkins, Rhian Gwilliam, Sarah E. Hunt, Simon Potter, Jonathan Golledge, Per Eriksson, Paul E. Norman, Janet T. Powell, Kari Stefansson, John R. Thompson, Steve E. Humphries, Robert D. Sayers, Panos Deloukas, Nilesh J. Samani, L. Victoria Phillip, Geraldine B. Hill, Michael J. A. Williams, Ian A. Thomson, Jo Krysa, Gerard T. Wilkins, Tony R. Merriman, Thodor M. Vasudevan, David R. Lewis, Ross D. Blair, Andrew A. Hill

Publikováno v: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 5, Iss 7 (2016)

BackgroundIntracranial aneurysms (IAs), abdominal aortic aneurysms (AAAs), and thoracic aortic aneurysms (TAAs) all have a familial predisposition. Given that aneurysm types are known to co‐occur, we hypothesized that there may be shared genetic ri

Externí odkaz: https://doaj.org/article/2acb672bf4a74a25b54ac4cd784f7c16

A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer’s disease

Autor: Richard Mayeux, Gao T Wang, Badri N. Vardarajan, Sandra Rodriguez, Alison Goate, Suzanne M. Leal, Alan E. Renton, Zhihui Zhang, Linhai Zhao

Publikováno v: European Journal of Human Genetics. 28:1734-1742

To analyze pedigrees with quantitative trait (QT) and sequence data, we developed a rare variant (RV) quantitative nonparametric linkage (QNPL) method, which evaluates sharing of minor alleles. RV-QNPL has greater power than the traditional QNPL that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b9b0267b4ebc2514bf2654113ddc6450
https://doi.org/10.1038/s41431-020-0703-z

Power analysis and sample size estimation for sequence-based association studies

Autor: Biao Li, Bo Peng, Gao T. Wang, Regie P. Lyn Santos-Cortez, Suzanne M. Leal

Publikováno v: Bioinformatics (Oxford, England). 30(16)

Motivation: Statistical methods have been developed to test for complex trait rare variant (RV) associations, in which variants are aggregated across a region, which is typically a gene. Power analysis and sample size estimation for sequence-based RV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f096e48c0a61ad0b26a3860c511c66a6
https://pubmed.ncbi.nlm.nih.gov/24778108