Article
Public, Environmental & Occupational Health
Maria C. Magnus, Maria Carolina Borges, Abigail Fraser, Deborah A. Lawlor
Summary: The age at natural menopause is associated with various health-related traits. This study conducted a Mendelian randomization phenome-wide association study to investigate these associations. The findings suggest that younger age at natural menopause may have potential causal effects on a range of health-related traits.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2022)
Article
Endocrinology & Metabolism
Jiahui Wang, Rong Luo, Xia Zhao, Di Xia, Yi Liu, Tao Shen, Yuanjiao Liang
Summary: Recent studies have suggested a potential correlation between gut microbiota (GM) and primary ovarian insufficiency (POI), but the causal relationship is still unclear. This two-sample Mendelian randomization (MR) study found a causal link between Eubacterium (hallii group), Eubacterium (ventriosum group), Intestinibacter, Terrisporobacter, and POI. Further clinical trials are needed to understand the effects and mechanisms of action of GM on POI.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Multidisciplinary Sciences
Xianghong Hu, Jia Zhao, Zhixiang Lin, Yang Wang, Heng Peng, Hongyu Zhao, Xiang Wan, Can Yang
Summary: Mendelian randomization (MR) is a valuable tool for inferring causal relationships among traits using summary statistics from GWASs, but existing methods often rely on strong assumptions leading to false-positive findings. Research has shown that considering pleiotropy and sample structure is crucial for reducing confounding effects.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Biochemistry & Molecular Biology
Frederick J. Boehm, Xiang Zhou
Summary: Genome-wide association studies have provided numerous associations for common diseases and complex traits. Mendelian randomization methods, utilizing SNP associations, help uncover causal relationships between complex traits. The availability of GWAS summary statistics has motivated the development of new Mendelian randomization methods with relaxed causality assumptions, offering opportunities for robust biological discoveries.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Review
Cell Biology
Seung Joo Chon, Zobia Umair, Mee-Sup Yoon
Summary: Premature ovarian insufficiency (POI) is a condition characterized by the loss of normal ovarian function before the age of 40, affecting a small percentage of women under 40. The condition is biochemically defined by amenorrhea, low estrogen levels, and high gonadotropin levels, potentially leading to infertility. POI has a heterogeneous etiology, including both genetic and non-genetic factors, and current research focuses on genetic basis, non-coding RNA, and animal models to uncover pathogenesis and potential treatment targets. Despite recent advances, understanding gene regulatory networks and exploring therapies remain critical for future research.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Gastroenterology & Hepatology
Jerome Bourgault, Erik Abner, Hasanga D. Manikpurage, Natalia Pujol-Gualdo, Triin Laisk, Emilie Gobeil, Eloi Gagnon, Arnaud Girard, Patricia L. Mitchell, Sebastien Theriault, Tonu Esko, Patrick Mathieu, Benoit J. Arsenault
Summary: A combination of genome-wide association meta-analysis and proteome-wide Mendelian randomization studies identified new genetic variants and potential therapeutic targets for acute pancreatitis (AP). The study identified 5 genetic loci linked with AP and 68 blood proteins associated with the disease, with 29 proteins validated in both data sets. This research provides new insights into the genetic architecture of AP and offers potential pathways for further exploration as therapeutic targets.
Article
Biochemical Research Methods
Siqi Xu, Wing Kam Fung, Zhonghua Liu
Summary: MRCIP is a novel MR approach that accounts for both correlated and idiosyncratic pleiotropy, using a random-effect model and a unique weighting scheme to estimate causal effects. It shows improved performance over competing methods in extensive simulation studies and has been demonstrated to be useful in real datasets. The R package for MRCIP is publicly available.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Mathematical & Computational Biology
Andrew J. Grant, Stephen Burgess
Summary: Mendelian randomization is a powerful method for inferring causal effects from observational data, but the presence of pleiotropy in genetic variants remains a challenge for accurate estimation. While there are various pleiotropy robust methods available for studying single risk factors, there are limited options for the multivariable setting with multiple risk factors. This study introduces three new methods and evaluates their performance in simulation studies, demonstrating varying levels of effectiveness depending on the level of pleiotropy present.
STATISTICS IN MEDICINE
(2021)
Article
Oncology
Xiaomeng Zhang, Xue Li, Yazhou He, Philip J. Law, Susan M. Farrington, Harry Campbell, Ian P. M. Tomlinson, Richard S. Houlston, Malcolm G. Dunlop, Maria Timofeeva, Evropi Theodoratou
Summary: The study found that benign colorectal neoplasms share genetic aetiology with CRC, and that CRC genetic predisposition is associated with diverticular disease.
BRITISH JOURNAL OF CANCER
(2022)
Editorial Material
Reproductive Biology
Elena J. Tucker, Tiong Y. Tan, Zornitza Stark, Andrew H. Sinclair
Summary: Genomic testing has the potential to significantly improve outcomes for infertile women, but thorough counseling, rigorous variant curation, and realistic expectations are necessary for optimal results.
BIOLOGY OF REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
H. Silven, S. M. Savukoski, P. Pesonen, E. Pukkala, M. Gissler, E. Suvanto, M. Niinimaki
Summary: The incidence of premature ovarian insufficiency (POI) has increased in females aged 15-19 years since 2007 but has decreased in older age groups. Relatives of women with POI have a significantly increased risk of developing POI. POI women tend to have slightly lower socioeconomic status and level of education compared to controls.
HUMAN REPRODUCTION
(2022)
Article
Multidisciplinary Sciences
Lina Cai, Tomas Gonzales, Eleanor Wheeler, Nicola D. Kerrison, Felix R. Day, Claudia Langenberg, John R. B. Perry, Soren Brage, Nicholas J. Wareham
Summary: Higher cardiorespiratory fitness is associated with lower risk of type 2 diabetes. Genetic determinants in cardiorespiratory fitness and candidate genes related to cardiac muscle development and muscle contractility were identified. Higher genetically predicted fitness is causally associated with lower risk of type 2 diabetes independent of adiposity.
NATURE COMMUNICATIONS
(2023)
Article
Medicine, General & Internal
Abram Bunya Kamiza, Segun Fatumo, Mwiza Gideon Singini, Chih-Ching Yeh, Tinashe Chikowore
Summary: The study suggests a causal association between chronic hepatitis B virus infection and extrahepatic cancers, particularly cervical and gastric cancers.
Review
Microbiology
Qixin Han, Zi-Jiang Chen, Yanzhi Du
Summary: Premature ovarian insufficiency (POI) is a reproductive disorder that impairs multiple functioning systems and decreases fertility in women. Hormone replacement therapy can partially alleviate symptoms, but nutritional dietary supplements and microbial nutrients show potential in improving reproductive function.
FRONTIERS IN MICROBIOLOGY
(2022)
Article
Clinical Neurology
Brittany L. Mitchell, Santiago Diaz-Torres, Svetlana Bivol, Gabriel Cuellar-Partida, Zachary F. Gerring, Nicholas G. Martin, Sarah E. Medland, Katrina L. Grasby, Dale R. Nyholt, Miguel E. Renteria
Summary: This study explores the genetic relationship between migraine risk and brain morphometry using genome-wide association studies. The researchers found a negative genetic correlation between migraine risk and intracranial volume, and identified shared genomic regions between migraine and various brain structures. Additionally, evidence of a causal relationship between smaller brain volumes and increased migraine risk was discovered. These findings contribute to the understanding of the genetic basis for migraine and potential therapeutic targets.
