Article
Medicine, General & Internal
Valeriya Chekanova, Nazanin Abolhassani, Julien Vaucher, Pedro Marques-Vidal
Summary: This study assessed the importance of clinical and genetic factors in the management of dyslipidaemia in the general population. It found that the management of dyslipidaemia in Switzerland is suboptimal, and the use of high potency statins is hindered by low posology. The use of genetic risk scores in the management of dyslipidaemia is not recommended.
Article
Clinical Neurology
Marios K. Georgakis, Dipender Gill
Summary: The Mendelian randomization approach utilizing genetic variants has proven to be a valuable tool for studying stroke risk factors and identifying therapeutic targets. With advances in methodology and the increasing availability of genetic data, the potential for Mendelian randomization in this context is exponentially expanding.
Article
Ophthalmology
Zijing Du, Xiayin Zhang, Yijun Hu, Yu Huang, Gabriella Bulloch, Xianwen Shang, Yingying Liang, Guanrong Wu, Yaxin Wang, Yu Xiao, Huiqian Kong, Dan Jouma Amadou Maman Lawali, Yunyan Hu, Zhuoting Zhu, Xiaohong Yang, Honghua Yu
Summary: This study found a significant association between hyperopia and clinically significant depression (CSD) in middle-aged and older individuals. Even after considering genetic risk, the association between hyperopia and incident CSD remained. Moreover, participants with a high degree of hyperopia were more likely to develop CSD compared to those with mild hyperopia.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Review
Genetics & Heredity
Savvina Prapiadou, Stacie L. Demel, Hyacinth I. Hyacinth
Summary: Stroke is a leading cause of disability and death globally, with significant racial/ethnic differences in its incidence, subtype, and prognosis between individuals of European and African ancestry. Traditional stroke risk factors can only explain about 50% of these differences. There is a lack of genetic studies including individuals of African descent, leaving gaps in our understanding of stroke genetics in this population.
Article
Clinical Neurology
Klodian Dhana, Lisa L. Barnes, Xiaoran Liu, Puja Agarwal, Pankaja Desai, Kristin R. Krueger, Thomas M. Holland, Shannon Halloway, Neelum T. Aggarwal, Denis A. Evans, Kumar B. Rajan
Summary: The study found that the APOE ε 4 allele is associated with cognitive decline, but adherence to a healthy lifestyle can slow down this decline in individuals carrying this gene. Both African Americans and European Americans showed a trend of slower cognitive decline when following a healthy lifestyle.
ALZHEIMERS & DEMENTIA
(2022)
Article
Ophthalmology
Brian S. Cole, Harini V. Gudiseva, Maxwell Pistilli, Rebecca Salowe, Caitlin P. McHugh, Michael C. Zody, Venkata R. M. Chavali, Gui Shuang Ying, Jason H. Moore, Joan M. O'Brien
Summary: This study examines the association of autosomal ancestry with POAG risk in a large cohort of self-identified African Americans. The results show that a higher degree of African ancestry is associated with an increased risk of POAG. Additionally, it is found that both known POAG single nucleotide polymorphisms and an omnigenic ancestry effect influence POAG risk.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)
Article
Ophthalmology
Yong Woo Kim, Yun Hwan Lee, Jin-Soo Kim, Jinho Lee, Yu Jeong Kim, Hyun Sub Cheong, Seok Hwan Kim, Ki Ho Park, Dong Myung Kim, Hyuk Jin Choi, Jin Wook Jeoung
Summary: The study validated the effectiveness of six previously known genetic loci related to primary open-angle glaucoma (POAG) in a Korean population. Variants near CDKN2B-AS1 and SIX1/SIX6 may require further investigation to obtain more genetic information on POAG development in this population.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2021)
Article
Psychology, Developmental
Brennan H. Baker, Yoonjung Yoonie Joo, Junghoon Park, Jiook Cha, Andrea A. Baccarelli, Jonathan Posner
Summary: This study found an association between young maternal age and increased risk for child ADHD. Socioeconomic disadvantages were likely the primary explanation for this association, although genetics and environmental factors also played a role.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2023)
Article
Psychology, Biological
Adam M. Leventhal, David Conti, Lara A. Ray, James W. Baurley, Mariel S. Bello, Junhan Cho, Yi Zhang, Mollie S. Pester, Lucas Lebovitz, Arif Budiarto, Bharuno Mahesworo, Bens Pardamean
Summary: This study combined laboratory behavioral pharmacology and genetic epidemiology methods to investigate tobacco addiction endophenotypes in African Americans. No statistically robust associations were found between genetic variants and 24 tobacco withdrawal endophenotypes, suggesting weak genetic influences on tobacco withdrawal in African Americans. More research with larger sample sizes of non-European ancestry individuals may be needed to explore known and novel loci that may be ancestry-specific.
EXPERIMENTAL AND CLINICAL PSYCHOPHARMACOLOGY
(2022)
Article
Multidisciplinary Sciences
Gabriela Franca Oliveira, Ana Carolina Campana Nascimento, Camila Ferreira Azevedo, Mauricio de Oliveira Celeri, Lais Mayara Azevedo Barroso, Isabela de Castro Sant'Anna, Jose Marcelo Soriano Viana, Marcos Deon Vilela de Resende, Moyses Nascimento
Summary: The study aimed to evaluate the performance of Quantile Regression (QR) in Genome-Wide Association Studies (GWAS) for detecting QTLs associated with phenotypic traits. Simulated data was used with traits of different heritability levels and controlled by different numbers of QTLs. QR models showed higher detection power and lower false positive rate compared to the General Linear Model (GLM). QR had a high detection power in scenarios with low heritability and can effectively detect QTLs even with a small number of individuals.
SCIENTIFIC REPORTS
(2023)
Article
Genetics & Heredity
Ekaterina Orlova, Tom Dudding, Jonathan M. Chernus, Rasha N. Alotaibi, Simon Haworth, Richard J. Crout, Myoung Keun Lee, Nandita Mukhopadhyay, Eleanor Feingold, Steven M. Levy, Daniel W. McNeil, Betsy Foxman, Robert J. Weyant, Nicholas J. Timpson, Mary L. Marazita, John R. Shaffer
Summary: Although genetics plays a role in early childhood caries (ECC) risk, little is known about the specific genetic determinants. This study conducted genome-wide association studies (GWAS) and transcriptome-wide association studies (TWAS) to identify genes associated with ECC. The results indicated suggestive evidence for the involvement of certain genetic regions and revealed four risk genes, including TAS2R14 which is associated with innate immunity and antimicrobial defense against cariogenic bacteria. These findings provide insights into the genetic architecture of ECC and highlight the importance of host-microbial interaction in caries risk.
Article
Sport Sciences
Elliott C. R. Hall, Philipp Baumert, Jon Larruskain, Susana M. Gil, Josean A. Lekue, Edgardo Rienzi, Sacha Moreno, Marcio Tannure, Conall F. Murtagh, Jack D. Ade, Paul Squires, Patrick Orme, Liam Anderson, Thomas E. Brownlee, Craig M. Whitworth-Turner, James P. Morton, Barry Drust, Alun G. Williams, Robert M. Erskine
Summary: This study is the first to demonstrate that a genetic association exists with injury prevalence in ASP, which differs according to maturity status.
SCANDINAVIAN JOURNAL OF MEDICINE & SCIENCE IN SPORTS
(2022)
Review
Medicine, Research & Experimental
Salvador Luis Said-Fernandez, Celia Nohemi Sanchez-Dominguez, Mauricio Andres Salinas-Santander, Herminia Guadalupe Martinez-Rodriguez, David Emmanuel Kubelis-Lopez, Natalia Aranza Zapata-Salazar, Osvaldo Tomas Vazquez-Martinez, Uwe Wollina, Torello Lotti, Jorge Ocampo-Candiani
Summary: Vitiligo is a skin disorder characterized by depigmentation of the skin due to a lack of melanin. Genetic and immunological factors play a primary role in the destruction and dysfunction of melanocytes. The disease is multifactorial with complex pathogenesis and genetic molecular changes.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Oncology
Natacha Wurtz Yazdanfard, Lauge Hjorth Mikkelsen, Nille Behrendt, Katrine Fuglsang, Jan Blaakaer, Lisbet Rosenkrantz Holmich, Ligita Paskeviciute Froding, Helga Fibiger Munch-Petersen, Steffen Heegaard
Summary: This study investigated the clinical, pathological, and genetic characteristics of patients with vaginal melanoma in Denmark. The results showed that vaginal melanoma is a rare disease with a poor prognosis, possibly due to vague symptoms and the anatomical location of the disease. Co-mutations in ATRX and TP53 and mutations in TP53 alone were associated with a poor prognosis, suggesting that these genes could be potential targets for future therapy.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Endocrinology & Metabolism
Yu'e Xi, Wenjing Gao, Ke Zheng, Jun Lv, Canqing Yu, Shengfeng Wang, Tao Huang, Dianjianyi Sun, Chunxiao Liao, Yuanjie Pang, Zengchang Pang, Min Yu, Hua Wang, Xianping Wu, Zhong Dong, Fan Wu, Guohong Jiang, Xiaojie Wang, Yu Liu, Jian Deng, Lin Lu, Weihua Cao, Liming Li
Summary: This study, using data from the Chinese National Twin Registry, investigated the impact of overweight or obesity on the risk of hypertension, and found that genetic and early-life familial environmental factors play a significant role in their association.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Public, Environmental & Occupational Health
Sissel Jessen Weissert, Ellen Margrethe Mikkelsen, Bjarke H. Jacobsen, Elizabeth E. Hatch, Amelia K. Wesselink, Lauren A. Wise, Kenneth J. Rothman, Henrik T. Sorensen, Anne Sofie Dam Laursen
Summary: This study found no meaningful association between consumption of organic food and fecundability in couples trying to conceive. However, slightly higher fecundability was observed among participants with less than 3 cycles of pregnancy attempt time when they consumed more organic food.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Holly Michelle Crowe, Elizabeth Elliott Hatch, Tanran R. Wang, Charles Robert Horsburgh, Ellen Margrethe Mikkelsen, Wendy Kuohung, Lauren Anne Wise, Amelia Kent Wesselink
Summary: Periconceptional antibiotic use was not significantly associated with the risk of spontaneous abortion in this study, possibly due to multiple factors.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2023)
Article
Oncology
Lauren E. Barber, Trang VoPham, Laura F. White, Hemant K. Roy, Julie R. Palmer, Kimberly A. Bertrand
Summary: Results from the Black Women's Health Study suggest that long-term night shift work may increase the risk of colorectal cancer in Black women.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Public, Environmental & Occupational Health
Marcella Malavolti, Carlotta Malagoli, Tommaso Filippini, Lauren A. Wise, Alessio Bellelli, Giovanni Palazzi, Monica Cellini, Sofia Costanzini, Sergio Teggi, Marco Vinceti
Summary: A case-control study found that living close to a petrol station, especially one with more frequent refueling activity, was associated with an increased risk of childhood leukemia.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Obstetrics & Gynecology
Lauren A. Wise, Tanran R. Wang, Joseph B. Stanford, Amelia K. Wesselink, Collette N. Ncube, Kenneth J. Rothman, Eleanor J. Murray
Summary: This study assessed the effects of randomization to FertilityFriend.com, a mobile fertility-tracking app, on fecundability. The study found that allocation to FF was associated with higher fecundability. However, these results only applied to participants with specific characteristics.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Marlon D. Joseph, Elizabeth E. Hatch, Martha R. Koenig, Michael L. Eisenberg, Tanran R. Wang, Greg J. Sommer, Sherri O. Stuver, Kenneth J. Rothman, Lauren A. Wise
Summary: This study evaluated the association between anthropometric measures and semen parameters, finding that selected anthropometric factors were modestly associated with poorer semen quality. Body mass index and waist circumference were found to have an impact on semen volume and sperm count.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Ruth J. Geller, Amelia K. Wesselink, Martha R. Koenig, Michael L. Eisenberg, Katherine L. Tucker, Elizabeth E. Hatch, Lauren A. Wise
Summary: This study found weak positive associations between male fatty acid intake and fecundability among couples planning pregnancy. However, no other fatty acid subtypes were significantly associated with fecundability. This study fills a knowledge gap regarding the association between male fatty acid intake and fecundability.
HUMAN REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
Marie Dahl Jorgensen, Ellen M. Mikkelsen, Elizabeth E. Hatch, Kenneth J. Rothman, Lauren A. Wise, Henrik Toft Sorensen, Anne Sofie Dam Laursen
Summary: This study examined the association between socioeconomic status and fecundability among Danish couples trying to conceive. The results showed that lower educational attainment and lower household income were associated with lower fecundability. These findings suggest that socioeconomic disparities may have an impact on reproductive health.
HUMAN REPRODUCTION
(2023)
Article
Genetics & Heredity
Abeer A. Aljahdali, Jaclyn M. Goodrich, Dana C. Dolinoy, Hyungjin M. Kim, Edward A. Ruiz-Narvaez, Ana Baylin, Alejandra Cantoral, Libni A. Torres-Olascoaga, Martha M. Tellez-Rojo, Karen E. Peterson
Summary: DNA methylation is a potential mechanism underlying cardiometabolic abnormalities, but evidence is limited among youth. The study found that DNAm at specific sites is associated with cardiometabolic risk factors such as glucose and lipid profiles. These findings suggest that epigenetic biomarkers may provide insights into cardiometabolic risk earlier in life.
Article
Environmental Sciences
Laura Deen, Alice Clark, Karin Sorig Hougaard, Kajsa Ugelvig Petersen, Marie Frederiksen, Lauren A. Wise, Amelia K. Wesselink, Harald William Meyer, Jens Peter Bonde, Sandra Sogaard Tottenborg
Summary: This study found an association between indoor air exposure to PCBs and T2D incidence, but there was no clear dose-response relationship between exposure and risk.
ENVIRONMENTAL RESEARCH
(2023)
Article
Oncology
Emily A. Wolfson, Mara A. Schonberg, A. Heather Eliassen, Kimberly A. Bertrand, Yurii B. Shvetsov, Bernard A. Rosner, Julie R. Palmer, Andrea Z. LaCroix, Rowan T. Chlebowski, Rebecca A. Nelson, Long H. Ngo
Summary: The competing-risk model developed in this study performs well in predicting breast cancer and nonbreast cancer death, and is comparable to existing breast cancer prediction models.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Public, Environmental & Occupational Health
Ke Pan, Anne Marie Jukic, Gita D. Mishra, Sunni L. Mumford, Lauren A. Wise, Enrique F. Schisterman, Sylvia H. Ley, Brittany M. Charlton, Jorge E. Chavarro, Jaime E. Hart, Stephen Sidney, Xu Xiong, Celestina Barbosa-Leiker, Karen C. Schliep, Jeffrey G. Shaffer, Lydia A. Bazzano, Emily W. Harville
Summary: This study analyzed the association between preconception cannabis use and gestational diabetes mellitus (GDM). The results showed that among individuals who never used tobacco, those who used cannabis more than weekly had a higher risk of developing GDM. However, this association was not present among former or current tobacco users. More detailed studies are needed to investigate the influence of preconception cannabis use on pregnancy complications.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Eric S. Zhou, Anna Revette, Lee M. Ritterband, Traci N. Bethea, Lauren Delp, Patricia D. Simmons, Lynn Rosenberg
Summary: Insomnia disorder is highly prevalent among Black women. Cognitive-behavioral therapy for insomnia (CBT-I) is considered the optimal treatment, but very little efficacy research has been conducted in minority populations. Culturally tailoring intervention content may increase participant engagement and improve treatment outcomes.
TRANSLATIONAL BEHAVIORAL MEDICINE
(2023)
Article
Oncology
Mara A. Schonberg, Emily A. Wolfson, A. Heather Eliassen, Kimberly A. Bertrand, Yurii B. Shvetsov, Bernard A. Rosner, Julie R. Palmer, Long H. Ngo
Summary: A model has been developed to predict 10-year non-breast cancer mortality and 5-year breast cancer risk. The risk assessment provided by the model may assist in decision-making regarding mammography screening.
BREAST CANCER RESEARCH
(2023)
Article
Oncology
Mollie E. Barnard, Xutao Wang, Jessica L. Petrick, Gary R. Zirpoli, Dennis Jones, W. Evan Johnson, Julie R. Palmer
Summary: This study evaluated differential gene expression in breast cancer cases among Black women with high and low exposure to psychosocial stressors, and identified multiple pathways through which this stress exposure may influence breast tumor biology.
BREAST CANCER RESEARCH AND TREATMENT
(2023)