Single Nucleotide Polymorphisms News and Research

RSS

Significant genetic variations linked to cannabis use disorder identified in major global ancestries

Multi-ancestry genome-wide association study of cannabis use disorder.

22 Nov 2023

Sleep sync: How your spouse influences your sleeping patterns

How spouses influence each other's sleep patterns and circadian preferences.

15 Nov 2023

Does cannabis use impact the risk of glaucoma? New study investigates

The study in Scientific Reports finds no significant association between cannabis use and the risk of primary open-angle glaucoma, challenging the notion that cannabis could influence intraocular pressure and glaucoma risk.

14 Nov 2023

New insights into migraine etiology: the role of hepatocyte growth factor

The causal links between pro-inflammatory cytokine expression and migraine.

10 Nov 2023

Pharmacogenomics holds promise for personalized dementia therapies

Pharmacogenomics-based studies in the research for personalized therapeutics for dementia

8 Nov 2023

Study links gut bacteria single-nucleotide polymorphisms to BMI

Researchers investigated the potential implications of single-nucleotide variations in gut-residing bacterial species (microbiome) on human health.

7 Nov 2023

Genetic twist in gallstone disease may shield against heart attacks

Mendelian randomization suggests gallstone disease may lower heart attack risk; genetics play a key role in this protective effect.

5 Nov 2023

Does the percentage of slow-wave sleep decline with aging, and are intra-individual declines associated with dementia risk?

Researchers investigated whether slow-wave sleep (SWS) proportions reduced as individuals aged and whether intra-individual decreases were linked to dementia risk.

1 Nov 2023

How one gene shakes up our understanding of male infertility

The study investigates the role of the ACTL7B gene in sperm formation using genetically modified mice and finds that deficiencies in this gene lead to failed spermatogenesis and structural sperm abnormalities. Given the gene's similarity in humans, the findings suggest ACTL7B could serve as a potential biomarker for male infertility.

31 Oct 2023

Unsupervised genome-wide variant effect predictor based on pretraining of DNA language models

The Genomic Pre-trained Network (GPN), a multispecies model developed to learn genome-wide variant effects.

31 Oct 2023

AI shows promise in predicting type 2 diabetes but faces hurdles for clinical use

Researchers have conducted a comprehensive review of AI-based models for predicting type 2 diabetes, revealing their potential for individualized risk assessment and preventative care. Despite promising results, the study calls for more extensive validation and collaboration between AI and medical experts for effective clinical application.

26 Oct 2023

Can your sleep predict depression? Insights from a genetic study

Researchers conducted a prospective study using a population-based cohort to calculate polygenic scores and understand whether suboptimal sleep durations indicated a predisposition to depression and vice versa.

24 Oct 2023

Coffee and genetics: A complex blend impacting kidney health

Researchers dive into the intricate connection between caffeine consumption and genetic predisposition, uncovering paradoxical effects on kidney function.

22 Oct 2023

Coffee consumption reduces risk of migraines, but not other neurological diseases

Researchers use Mendelian randomization to establish a causal link between coffee consumption and reduction in migraine risk.

20 Oct 2023

Does inflammatory bowel disease have a causal relationship with extracolonic tumors?

Whether inflammatory bowel disease (IBD) is causally related to extracolonic cancers.

17 Oct 2023

Cracking the code: How egg consumption and genetics team up to affect heart disease risk

Egg consumption and genetic factors synergistically increase the risk of coronary artery disease, according to a large prospective study. The findings may lead to personalized dietary guidelines for those at greater genetic risk for heart disease.

16 Oct 2023

PacBio Announces Complete Computational Workflow for Human Whole Genome Sequencing Data Analysis

PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the availability of PacBio WGS Variant Pipeline – a complete, standardized computational method for HiFi whole genome sequencing (WGS) data analysis.

From PacBio 11 Oct 2023

Study supports genetic predisposition to chronic regional pain syndrome in a third of cases

Genes may be responsible for third of complex regional pain syndrome cases. But the condition is less common in men, even though they are more likely to have the 4 genetic variations implicated in heightened risk, suggesting that there may be sex specific causes, say the researchers.

10 Oct 2023

Gut's role in gout: New study unravels microbiome's influence on uric acid levels

In a comprehensive study, researchers explored the causal relationship between the gut microbiome, serological urate levels, and gout using Mendelian randomization. The findings reveal that certain genetically predicted gut microbial taxa influence uric acid levels and gout development, and vice versa, suggesting the gut microbiome as a potential therapeutic target for gout.

9 Oct 2023

A better method to predict polygenic inheritance across multiple ancestries

Researchers report the results obtained from the use of a new PRS calculator called CT-SLEB on a multi-national GWAS database.

2 Oct 2023