STUDY TITLE: Genetic variants and functional pathways associated with resilience to Alzheimer’s disease SUMMARY: Identification of multiple regions of the genome associated with resilience to Alzheimer’s disease. OVERVIEW: Alzheimer’s disease is a form of dementia in which brain cells degenerate and die. The condition develops gradually, and over time affects memory, mood, thinking, and behavior.
STUDY TITLE: Genome‐wide association study and meta‐analysis on alcohol‐related liver cirrhosis identifies novel genetic risk factors SUMMARY: Discovery of a novel region of the genome associated with alcohol-related liver cirrhosis. OVERVIEW: The liver is a large organ that sits on the right side of the abdomen. It filters blood to detoxify chemicals, including drugs and
STUDY TITLE: Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic aetiology of ocular diseases SUMMARY: Identification of 258 genetic variants associated with the corneal resistance factor. OVERVIEW: The cornea is a dome-shaped “window” covering the front part of the eye. It serves to both protect the eye
STUDY TITLE: Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic aetiology of ocular diseases SUMMARY: Identification of 203 generic variants associated with corneal hysteresis, a measure of the “shock-absorbing” ability of the cornea. OVERVIEW: The cornea is a dome-shaped “window” covering the front part of the eye.
STUDY TITLE: Common susceptibility loci for male breast cancer SUMMARY: Discovery of 3 novel regions of the genome associated with male breast cancer. OVERVIEW: Breast cancer is a disease where cells in the breast grow out of control. Though breast cancer is commonly considered a disease that only affects females, males can also be diagnosed
STUDY TITLE: GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer SUMMARY: Identification of 28 novel regions associated with thyroid stimulating hormone levels. OVERVIEW: The thyroid is a butterfly-shaped gland located at the front of the neck. It plays a critical role in controlling the body’s metabolism by regulating how fast we
STUDY TITLE: Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism SUMMARY: Discovery of a novel genomic region associated with autism spectrum disorder (ASD). OVERVIEW: Autism spectrum disorder (ASD) is a condition that affects the brain’s development. It impacts social skills, speech, and learning. ASD is