Timothy M. Frayling

2020

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.

PLoS computational biology ·doi:10.1371/journal.pcbi.1008044

Genetic studies have recently highlighted the importance of fat distribution, as well as overall adiposity, in the pathogenesis of obesity-associated diseases. Using a large study (n = 1,288) from 4 independent cohorts, we aimed to investig…

2018

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Nature genetics ·doi:10.1038/s41588-017-0011-x

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal gene…

article 2016

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health

Human Reproduction ·doi:10.1093/humrep/dev318

STUDY QUESTION: How does a genetic variant in the FSHB promoter, known to alter FSH levels, impact female reproductive health? SUMMARY ANSWER: The T allele of the FSHB promoter polymorphism (rs10835638; c.-211G>T) results in longer menstrua…

2016

Genome-wide associations for birth weight and correlations with adult disease.

Nature ·doi:10.1038/nature19806

Birth weight (BW) has been shown to be influenced by both fetal and maternal factors and in observational studies is reproducibly associated with future risk of adult metabolic diseases including type 2 diabetes (T2D) and cardiovascular dis…

article 2015

at menopause, and impact reproductive health: a UK Biobank study

Study question: How does a genetic variant altering follicle stimulating hormone (FSH) levels, which we identified as associated with length of menstrual cycle, more widely impact reproductive health? Summary answer: The T allele of the FSH…

preprint 2015

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause, and impact reproductive health: a UK Biobank study

·doi:10.1101/028001

Abstract Study question: How does a genetic variant altering follicle stimulating hormone (FSH) levels, which we identified as associated with length of menstrual cycle, more widely impact reproductive health? Summary answer: The T allele o…