Researchers from the U.K. have analyzed whole-genome sequencing data from 7,276 cases and 236,741 controls in the UK Biobank to perform gene-level and a variant-level exome-wide association study analysis to identify variants related to retinal detachment.
Many studies have linked the presence of specific bacteria to various diseases. But a general overgrowth of gut bacteria can be a symptom of different conditions, including colorectal cancer and inflammatory bowel disease. A study counting gut microbiome proposes that microbial load, rather than the disease, could explain the presence of certain pathogens.
WDR45 is located on the X chromosome. Its pathogenic variants are associated with various neurodegenerative disorders that are predominantly reported in females and present a wide range of clinical phenotypes, from early-onset developmental delay to neurodegeneration and multiple epileptic syndromes.
Orofacial clefting is a common birth defect that affects 1 in 700 newborns, and includes cleft lip, cleft palate and cleft lip and palate, with a strong genetic component, thus being highly heritable. Researchers have identified new gene variants tied to orofacial clefting.
Primary aldosteronism (PA), caused by bilateral adrenal hyperplasia or aldosteronomas, is the leading cause of endocrine hypertension, with an estimated prevalence of 10%-20% in patients in tertiary hospitals.
Complex genomic rearrangements (CGRs) involve large-scale genomic alterations with multiple breakpoints and are implicated in genetic diseases such as malformation syndromes, intellectual disability and neurodevelopmental disorders.
Researchers from Nanjing First Hospital reported that glutamine-fructose-6-phosphate transaminase 2 (GFPT2) may be considered a diagnostic and prognostic marker of mesothelioma.
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