Article
Oncology
Gregory S. Calip, John Kidd, Ryan Bernhisel, Hannah C. Cox, Jennifer Saam, Garth H. Rauscher, Johnathan M. Lancaster, Kent F. Hoskins
Summary: The study found that male breast cancer (MBC) patients without BRCA1/2 mutations have significantly higher odds of a family history of breast cancer, suggesting the existence of unidentified MBC susceptibility alleles.
BREAST CANCER RESEARCH AND TREATMENT
(2021)
Review
Genetics & Heredity
Laura Mateu-Arrom, Lluis Puig
Summary: Psoriasis is a complex disease influenced by both genetic and environmental factors. Advances in genomic and epigenomic studies have provided insight into the underlying mechanisms of psoriasis, leading to the development of new drugs. This review aims to summarize the current evidence on the genetic and epigenetic mechanisms of psoriasis.
Review
Agriculture, Dairy & Animal Science
Asha M. Miles, Heather J. Huson
Summary: Mastitis is the costliest disease for dairy producers, and efforts have shifted towards preventative measures, but breeding for resistance remains challenging.
JOURNAL OF DAIRY SCIENCE
(2021)
Article
Physics, Nuclear
Ngo Phuc Duc Loc
Summary: The study investigates two different scenarios to improve the restrictions on cutoff scale and lower bound by modifying the expansion history in order to satisfy electroweak baryogenesis and the sphaleron bound.
INTERNATIONAL JOURNAL OF MODERN PHYSICS A
(2022)
Article
Health Care Sciences & Services
Tina Thomas, Griffin Litwin, David J. Francis, Elena L. Grigorenko
Summary: This study applied imaging and genetic studies on a family of twins discordant for SRD and an older sibling with reading difficulty. SNPs in genes ZNF385D, LPHN3, CNTNAP2, FGF18, NOP9, CMIP, MYO18B, and RBFOX2 were found to correspond with SRD in the siblings but not the typically developing siblings. While grey matter volume and surface area were similar among all sibling pairs, cortical thickness in reading-related regions differed, suggesting cortical thickness may differentiate risk for this family. The study highlights the importance of early examination of biological factors for early identification of SRD.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Multidisciplinary Sciences
Xi Wu, Cong Huai, Lu Shen, Mo Li, Chao Yang, Juan Zhang, Luan Chen, Wenli Zhu, Lingzi Fan, Wei Zhou, Qinghe Xing, Lin He, Chunling Wan, Shengying Qin
Summary: The study found that patients with schizophrenia in Chinese families carried more duplications compared to healthy family members and controls, and identified new CNV loci associated with schizophrenia. Two genes within these CNVs showed significant relevance to schizophrenia, supporting the role of CNVs in schizophrenia etiology and providing new insights into the pathogenesis of schizophrenia.
Article
Biochemistry & Molecular Biology
Liam Quinn, Genis Garcia-Erill, Cindy Santander, Anna Bruniche-Olsen, Xiaodong Liu, Mikkel-Holger S. Sinding, Michael P. P. Heaton, Timothy P. L. Smith, Patricia Pecnerova, Laura D. D. Bertola, Kristian Hanghoj, Malthe Sebro Rasmussen, Deon de Jager, Hans R. R. Siegismund, Anders Albrechtsen, Rasmus Heller, Ida Moltke
Summary: The iconic Cape buffalo has experienced population declines attributed to multiple factors, including the rinderpest pandemic and recent human activity. This study analyzed whole genome sequencing data to assess genetic diversity in Cape buffalo populations. The results indicate that recent inbreeding and colonialism-associated events have significantly impacted the genetic diversity of the southernmost populations.
Article
Public, Environmental & Occupational Health
Rebecca Dimond, Shane Doheny, Lisa Ballard, Angus Clarke
Summary: This article explores the importance of family in the experience of genetic testing, arguing that understanding individuals' experiences of genetic diseases and their responses to genetic technologies requires considering the context in which they occur. By analyzing relevant literature and conducting interviews, the article finds that family plays a significant role in disclosure, gatekeeping, communication, and other aspects of individuals' genetic testing experiences. Lastly, the article examines the entanglement of family and genetics as a way to explain their complex connections.
SOCIAL SCIENCE & MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Amanda R. Jowell, Romit Bhattacharya, Christopher Marnell, Megan Wong, Sara Haidermota, Mark Trinder, Akl C. Fahed, Gina M. Peloso, Michael C. Honigberg, Pradeep Natarajan
Summary: This study shows that the information contained in self-reported family history of heart disease cannot be fully explained by genetic and clinical biomarkers. The majority of the risk of reporting a family history is still unexplained, highlighting the ongoing relevance of family history in clinical practice.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Genetics & Heredity
Miriam Fanjul-Fernandez, Natasha J. Brown, Peter Hickey, Peter Diakumis, Haloom Rafehi, Kiymet Bozaoglu, Cherie C. Green, Audrey Rattray, Savannah Young, Dana Alhuzaimi, Hayley S. Mountford, Greta Gillies, Vesna Lukic, Tanya Vick, Keri Finlay, Bradley P. Coe, Evan E. Eichler, Martin B. Delatycki, Sarah J. Wilson, Melanie Bahlo, Ingrid E. Scheffer, Paul J. Lockhart
Summary: This study analyzed a large multigenerational family of European ancestry and identified a rare genetic variant associated with ASD and BAP. The variant was present in multiple family members affected with ASD/BAP, suggesting an association between the gene and ASD.
Article
Biotechnology & Applied Microbiology
Yixin Zhang, James B. Meigs, Ching-Ti Liu, Josee Dupuis, Chloe Sarnowski
Summary: Considering family history may enhance the accuracy and power of CC-GWAS in detecting disease-associated genetic variants. The methods incorporating family history showed higher power than CC-GWAS, especially in older age groups. These methods detected known genetic variants and increased their significance in real data applications, demonstrating the importance of including family history in genetic association studies.
Article
Genetics & Heredity
Cameron B. Haas, James Ralston, Stephanie M. Fullerton, Aaron Scrol, Nora B. Henrikson
Summary: This study examines the implementation of automated family cascade genetic testing in electronic health records and finds limited bioinformatic support and non-technical barriers, including understanding of regulations, consent, and workflow.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Zebin Yao, Shuisheng Long, Chun Wang, Chengqin Huang, Hairui Zhang, Liao Jian, Jingru Huang, Yusong Guo, Zhongdian Dong, Zhongduo Wang
Summary: In this study, we resequenced the whole genome of four populations of Oryzias curvinotus, including the SY-medaka population. The results showed that the genetic differentiation between SY-medaka and other populations is the highest. The population history analysis suggested that SY-medaka has recently experienced a bottleneck period and is strongly affected by environmental selection. We also identified potential genomic regions and genes that may explain the selection process of SY-medaka.
FRONTIERS IN GENETICS
(2022)
Article
Psychology, Developmental
Robert J. Loughnan, Clare E. Palmer, Carolina Makowski, Wesley K. Thompson, Deanna M. Barch, Terry L. Jernigan, Anders M. Dale, Chun Chieh Fan
Summary: Many behaviors show shared genetic influences among youth, but emerging psychopathologies also exhibit specificity for individuals with high genetic risk.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2022)
Article
Ophthalmology
Alan Shiels, J. Fielding Hejtmancik
Summary: Cataracts are caused by protein aggregation or disruption of lens microarchitecture, and genetic mutations can provide insights into lens homeostasis. Congenital cataracts involve severe damage to lens proteins, while age-related cataracts are more susceptible to environmental insults, leading to different pathologies.
EXPERIMENTAL EYE RESEARCH
(2021)
Article
Peripheral Vascular Disease
Jacob. K. K. Kresovich, Zongli Xu, Katie. M. M. O'Brien, Christine. G. G. Parks, Clarice. R. R. Weinberg, Dale. P. P. Sandler, Jack. A. A. Taylor
Summary: This study found that shifts in lymphocyte subsets occur before the development of hypertension, followed by changes to neutrophils and additional lymphocytes.
Article
Oncology
Siddhartha Yadav, Nicholas J. Boddicker, Jie Na, Eric C. Polley, Chunling Hu, Steven N. Hart, Rohan D. Gnanaolivu, Nicole Larson, Susan Holtegaard, Huaizhi Huang, Carolyn A. Dunn, Lauren R. Teras, Alpa V. Patel, James V. Lacey, Susan L. Neuhausen, Elena Martinez, Christopher Haiman, Fei Chen, Kathryn J. Ruddy, Janet E. Olson, Esther M. John, Allison W. Kurian, Dale P. Sandler, Katie M. O'Brien, Jack A. Taylor, Clarice R. Weinberg, Hoda Anton-Culver, Argyrios Ziogas, Gary Zirpoli, David E. Goldgar, Julie R. Palmer, Susan M. Domchek, Jeffrey N. Weitzel, Katherine L. Nathanson, Peter Kraft, Fergus J. Couch
Summary: The purpose of this study was to estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2. The results showed that BRCA1, BRCA2, and CHEK2 PV carriers with breast cancer had significantly higher risks of CBC, while only PALB2 PV carriers with ER-negative breast cancer had elevated risks. However, ATM PV carriers did not have significantly increased CBC risks. The study suggests that women diagnosed with breast cancer and known to carry germline PVs in certain genes may benefit from enhanced surveillance and risk reduction strategies.
JOURNAL OF CLINICAL ONCOLOGY
(2023)
Letter
Oncology
Che-Jung Chang, Katie M. O'Brien, Alexander P. Keil, Symielle A. Gaston, Chandra L. Jackson, Dale P. Sandler, Alexandra J. White
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Oncology
Vicky C. Chang, Gabriella Andreotti, Maria Ospina, Christine G. Parks, Danping Liu, Joseph J. Shearer, Nathaniel Rothman, Debra T. Silverman, Dale P. Sandler, Antonia M. Calafat, Laura E. Beane Freeman, Jonathan N. Hofmann
Summary: This study investigated the association between glyphosate exposure and urinary oxidative stress biomarkers in farmers. The results showed that urinary glyphosate concentrations were positively associated with levels of oxidative stress biomarkers, such as 8-OHdG and MDA. The findings support the association between glyphosate exposure and oxidative stress in humans.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Environmental Sciences
Jongeun Rhee, Danielle N. Medgyesi, Jared A. Fisher, Alexandra J. White, Joshua N. Sampson, Dale P. Sandler, Mary H. Ward, Rena R. Jones
Summary: This study evaluated the association between residential exposure to industrial emissions of PCDD/F and breast cancer risk in a large U.S. cohort. The results suggest that living within 3 kilometers of the pollution source, especially near municipal solid waste facilities, may increase the risk of breast cancer.
ENVIRONMENTAL RESEARCH
(2023)
Article
Peripheral Vascular Disease
Jacob K. Kresovich, Dale P. Sandler, Jack A. Taylor
Summary: This study found a positive association between hypertension and DNA methylation-based biological age metrics in older individuals. Women with higher biological age were more likely to have prevalent hypertension at baseline and to be diagnosed with incident hypertension during follow-up. These findings suggest that epigenetic markers may be helpful in early diagnosis and treatment of hypertension.
Article
Genetics & Heredity
Elizabeth M. Martin, Sara A. Grimm, Zongli Xu, Jack A. Taylor, Paul A. Wade
Summary: This study compared the DNA methylation assessment using Illumina Mouse Methylation BeadChip (MMB) technology with the gold-standard method of whole-genome bisulfite sequencing (WGBS). The results showed that MMB produced similar measurements of methylation as WGBS, and the differentially methylated cytosines and regions identified by both methods overlapped and enriched for similar biological functions, indicating that MMB faithfully recapitulates the findings of WGBS.
Article
Endocrinology & Metabolism
Brittany Crawford, Susan E. Steck, Dale P. Sandler, Anwar T. Merchant, Jennifer M. P. Woo, Yong-Moon Mark Park
Summary: The role of socioeconomic disparities in the association between diet and risk of type 2 diabetes (T2D) was investigated. It was found that there are weaker associations between diet quality and T2D incidence among individuals with lower socioeconomic status, suggesting that other factors play a larger role in T2D incidence in this population.
DIABETES RESEARCH AND CLINICAL PRACTICE
(2023)
Article
Environmental Sciences
Sarah H. Koenigsberg, Che -Jung Chang, Jennifer Ish, Zongli Xu, Jacob K. Kresovich, Kaitlyn G. Lawrence, Joel D. Kaufman, Dale P. Sandler, Jack A. Taylor, Alexandra J. White
Summary: This study demonstrates an association between air pollution and DNA methylation alterations in Black women, suggesting that air pollution may contribute to higher epigenetic aging in this population.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Environmental Sciences
Clara Bodelon, Gretchen L. Gierach, Elizabeth E. Hatch, Emily Riseberg, Amy Hutchinson, Meredith Yeager, Dale P. Sandler, Jack A. Taylor, Robert N. Hoover, Zongli Xu, Linda Titus, Julie R. Palmer, Rebecca Troisi
Summary: This study explored blood DNA methylation in women exposed and unexposed to prenatal diethylstilbestrol (DES). The results showed that DNA methylation levels at 10 CpG sites in six candidate genes were significantly associated with prenatal DES exposure. These findings suggest that in utero DES exposure may be associated with differential blood DNA methylation levels, which could mediate the increased risk of several adverse health outcomes observed in exposed women.
ENVIRONMENTAL RESEARCH
(2023)
Article
Environmental Sciences
Lauren M. Hurwitz, Laura E. Beane Freeman, Gabriella Andreotti, Jonathan N. Hofmann, Christine G. Parks, Dale P. Sandler, Jay H. Lubin, Jia Liu, Kristine Jones, Sonja I. Berndt, Stella Koutros
Summary: The study found that there is an interaction between pesticides, specific organic compounds, and genetic variants in relation to prostate cancer risk. Farmers exposed to certain organophosphate and organochlorine insecticides have an increased risk of prostate cancer. Additionally, there is a suggestion of interaction between pesticides and genetic variants occurring in regions associated with DNA damage response and variants related to altered androgen receptor-driven transcriptional programs critical for prostate cancer.
ENVIRONMENTAL RESEARCH
(2023)
Article
Urology & Nephrology
Fei Chen, Ravi K. Madduri, Alex A. Rodriguez, Burcu F. Darst, Alisha Chou, Xin Sheng, Anqi Wang, Jiayi Shen, Edward J. Saunders, Suhn K. Rhie, Jeannette T. f Bensen, Sue A. Ingles, Rick A. Kittles, Sara S. Strom, Benjamin A. Rybicki, Barbara Nemesure, William B. Isaacs, Janet L. Stanford, Wei Zheng, Maureen Sanderson, Esther M. John, Jong Y. Park, Jianfeng Xu, Ying Wang, Sonja I. Berndt, Chad D. Huff, Edward D. Yeboah, Yao Tettey, Joseph Lachance, Wei Tang, Christopher T. Rentsch, Kelly Cho, Benjamin H. Mcmahon, Richard B. Biritwum, Andrew A. Adjei, Evelyn Tay, Ann Truelove, Shelley Niwa, Thomas A. Sellers, Kosj Yamoah, Adam B. Murphy, Dana C. Crawford, Alpa V. Patel, William S. Bush, Melinda C. Aldrich, Olivier Cussenot, Gyorgy Petrovics, Jennifer Cullen, Christine M. Neslund-Dudas, Mariana C. Stern, Zsofia Kote-Jarai, Koveela Govindasami, Michael B. Cook, Anand P. Chokkalingam, Ann W. Hsing, Phyllis J. Goodman, Thomas J. Hoffmann, Bettina F. Drake, Jennifer J. Hu, Jacob M. Keaton, Jacklyn N. Hellwege, Peter E. Clark, Mohamed Jalloh, Serigne M. Gueye, Lamine Niang, Olufemi Ogunbiyi, Michael O. Idowu, Olufemi Popoola, Akindele O. Adebiyi, Oseremen I. Aisuodionoe-Shadrach, Hafees O. Ajibola, Mustapha A. Jamda, Olabode P. Oluwole, Maxwell Nwegbu, Ben Adusei, Sunny Mante, Afua Darkwa-Abrahams, James E. Mensah, Halimatou Diop, Stephen K. Van Den Eeden, Pascal Blanchet, Jay H. Fowke, Graham Casey, Anselm J. Hennis, Alexander Lubwama, Ian M. Thompson, Robin Leach, Douglas F. Easton, Michael H. Preuss, Ruth J. Loos, Susan M. Gundell, Peggy Wan, James L. Mohler, Elizabeth T. Fontham, Gary J. Smith, Jack A. Taylor, Shiv Srivastava, Rosaline A. Eeles, John D. Carpten, Adam S. Kibel, Luc Multigner, Marie-Elise Parent, Florence Menegaux, Geraldine Cancel-Tassin, Eric A. Klein, Caroline Andrews, Timothy R. Rebbeck, Laurent Brureau, Stefan Ambs, Todd L. Edwards, Stephen Watya, Stephen J. Chanock, John S. Witte, William J. Blot, J. Michael Gaziano, Amy C. Justice, David Conti, Christopher A. Haiman
Summary: In this study, a large-scale genetic analysis was conducted in men of African ancestry, leading to the discovery of nine novel risk variants for prostate cancer (PCa). Furthermore, a multiancestry polygenic risk score was developed to effectively stratify PCa risk and differentiate the risk of aggressive and nonaggressive disease.
Article
Urology & Nephrology
Stella Koutros, Lambertus A. Kiemeney, Parichoy Pal Choudhury, Roger L. Milne, Evangelina Lopez de Maturana, Yuanqing Ye, Vijai Joseph, Oscar Florez-Vargas, Lars Dyrskjot, Jonine Figueroa, Diptavo Dutta, Graham G. Giles, Michelle A. T. Hildebrandt, Kenneth Offit, Manolis Kogevinas, Elisabete Weiderpass, Marjorie L. McCullough, Neal D. Freedman, Demetrius Albanes, Charles Kooperberg, Victoria K. Cortessis, Margaret R. Karagas, Alison Johnson, Molly R. Schwenn, Dalsu Baris, Helena Furberg, Dean F. Bajorin, Olivier Cussenot, Geraldine Cancel-Tassin, Simone Benhamou, Peter Kraft, Stefano Porru, Angela Carta, Timothy Bishop, Melissa C. Southey, Giuseppe Matullo, Tony Fletcher, Rajiv Kumar, Jack A. Taylor, Philippe Lamy, Frederik Prip, Mark Kalisz, Stephanie J. Weinstein, Jan G. Hengstler, Silvia Selinski, Mark Harland, Mark Teo, Anne E. Kiltie, Adonina Tardon, Consol Serra, Alfredo Carrato, Reina Garcia-Closas, Josep Lloreta, Alan Schned, Petra Lenz, Elio Riboli, Paul Brennan, Anne Tjonneland, Thomas Otto, Daniel Ovsiannikov, Frank Volkert, Sita H. Vermeulen, K. K. Aben, Tessel E. Galesloot, Constance Turman, Immaculata De Vivo, Edward Giovannucci, David J. Hunter, Chancellor Hohensee, Rebecca Hunt, Alpa V. Patel, Wen-Yi Huang, Gudmar Thorleifsson, Manuela Gago-Dominguez, Pilar Amiano, Klaus Golka, Mariana C. Stern, Wusheng Yan, Jia Liu, Shengchao Alfred, Shilpa Katta, Amy Hutchinson, Belynda Hicks, William A. Wheeler, Mark P. Purdue, Katherine A. McGlynn, Cari M. Kitahara, Christopher A. Haiman, Mark H. Greene, Thorunn Rafnar, Nilanjan Chatterjee, Stephen J. Chanock, Xifeng Wu, Francisco X. Real, Debra T. Silverman, Montserrat Garcia-Closas, Kari Stefansson, Ludmila Prokunina-Olsson, Nuria Malats, Nathaniel Rothman
Summary: A meta-analysis of 32 studies identified novel genetic variants associated with bladder cancer risk and constructed a polygenic risk score (PRS) to stratify lifetime risk. These findings provide insights into the biological underpinnings of bladder cancer and have the potential to inform future preventive strategies.
