A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density
Sign Up to like & getrecommendations! Published in 2021 at "Cell Metabolism"
DOI: 10.1016/j.cmet.2021.01.001
Abstract: Summary Skeletal and glycemic traits have shared etiology, but the underlying genetic factors remain largely unknown. To identify genetic loci that may have pleiotropic effects, we studied Genome-wide association studies (GWASs) for bone mineral density… read more here.
Keywords: bone mineral; risk; regulatory variant; mineral density ... See more keywords
A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0297-x
Abstract: Systemic lupus erythematosus (SLE) is an autoimmune disorder with heterogeneous clinical presentation and complex etiology involving the interplay between genetic, epigenetic, environmental and hormonal factors. Many common SNPs identified by genome wide-association studies (GWAS) explain… read more here.
Keywords: rare regulatory; regulatory variant; variant; associated sle ... See more keywords
Fine Mapping of a Major Backfat QTL Reveals a Causal Regulatory Variant Affecting the CCND2 Gene
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.871516
Abstract: Backfat is an important trait in pork production, and it has been included in the breeding objectives of genetic companies for decades. Although adipose tissue is a good energy storage, excessive fat results in reduced… read more here.
Keywords: ccnd2 gene; regulatory variant; qtl region; backfat ... See more keywords