Mendelian randomization analyses in ocular disease: a powerful approach to causal inference with human genetic data

J Li, C Li, Y Huang, P Guan, D Huang, H Yu… - Journal of Translational …, 2022 - Springer
Ophthalmic epidemiology is concerned with the prevalence, distribution and other factors
relating to human eye disease. While observational studies cannot avoid confounding …

Interaction of obesity polygenic score with lifestyle risk factors in an electronic health record biobank

HS Dashti, N Miranda, BE Cade, T Huang, S Redline… - BMC medicine, 2022 - Springer
Background Genetic and lifestyle factors have considerable effects on obesity and related
diseases, yet their effects in a clinical cohort are unknown. This study in a patient biobank …

Placental multi-omics integration identifies candidate functional genes for birthweight

F Tekola-Ayele, X Zeng, S Chatterjee, M Ouidir… - Nature …, 2022 - nature.com
Abnormal birthweight is associated with increased risk for cardiometabolic diseases in later
life. Although the placenta is critical to fetal development and later life health, it has not been …

An update of the consensus statement on insulin resistance in children 2010

VM Tagi, S Samvelyan, F Chiarelli - Frontiers in Endocrinology, 2022 - frontiersin.org
In our modern society, where highly palatable and calorie-rich foods are readily available,
and sedentary lifestyle is common among children and adolescents, we face the pandemic …

The genetic risk of gestational diabetes in South Asian women

A Lamri, J Limbachia, KM Schulze, D Desai, B Kelly… - Elife, 2022 - elifesciences.org
South Asian women are at increased risk of developing gestational diabetes mellitus (GDM).
Few studies have investigated the genetic contributions to GDM risk. We investigated the …

Population-based genetic effects for developmental stuttering

HG Polikowsky, DM Shaw, LE Petty, HH Chen… - Human Genetics and …, 2022 - cell.com
Despite a lifetime prevalence of at least 5%, developmental stuttering, characterized by
prolongations, blocks, and repetitions of speech sounds, remains a largely idiopathic …

Association between RAC1 gene variation, redox homeostasis and type 2 diabetes mellitus

I Azarova, E Klyosova… - European Journal of …, 2022 - Wiley Online Library
Background Increased production of reactive oxygen species (ROS) and oxidative stress are
known to play a key role in the pathogenesis of type 2 diabetes (T2D); however, the …

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

CG Downie, SF Dimos, SA Bien, Y Hu, BF Darst… - Diabetologia, 2022 - Springer
Aims/hypothesis Type 2 diabetes is a growing global public health challenge. Investigating
quantitative traits, including fasting glucose, fasting insulin and HbA1c, that serve as early …

Mendelian randomization rules out causation between inflammatory bowel disease and non-alcoholic fatty liver disease

L Chen, Z Fan, X Sun, W Qiu, Y Chen… - Frontiers in …, 2022 - frontiersin.org
Background: Inflammatory bowel disease (IBD) and non-alcoholic fatty liver disease
(NAFLD) usually co-exist clinically. However, whether such association is causal is still …

Arl15 upregulates the TGFβ family signaling by promoting the assembly of the Smad-complex

M Shi, HC Tie, M Divyanshu, X Sun, Y Zhou, BK Boh… - Elife, 2022 - elifesciences.org
The hallmark event of the canonical transforming growth factor β (TGFβ) family signaling is
the assembly of the Smad-complex, consisting of the common Smad, Smad4, and …