Редактирование: CCDC71L

domain-containing protein 71L [C7orf74]

==Publications==

{{medline-entry
|title=Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/24951662
|abstract=Atherosclerosis, the precursor to coronary heart disease and stroke, is characterized by an accumulation of fatty cells in the arterial intimal-medial layers. Common carotid intima media thickness (cIMT) and plaque are subclinical atherosclerosis measures that predict cardiovascular disease events. Previously, genome-wide association studies demonstrated evidence for association with cIMT ([[SLC17A4]]) and plaque ([[PIK3CG]]). We sequenced 120 kb around [[SLC17A4]] (6p22.2) and 251 kb around [[PIK3CG]] (7q22.3) among 3669 European ancestry participants from the Atherosclerosis Risk in Communities (ARIC) study, Cardiovascular Health Study (CHS), and Framingham Heart Study (FHS) in Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Primary analyses focused on 438 common variants (minor allele frequency ≥1%), which were independently meta-analyzed. A 3' untranslated region [[CCDC71L]] variant (rs2286149), upstream from [[PIK3CG]], was the most significant finding in cIMT (P=0.00033) and plaque (P=0.0004) analyses. A [[SLC17A4]] intronic variant was also associated with cIMT (P=0.008). Both were in low linkage disequilibrium with the genome-wide association study single nucleotide polymorphisms. Gene-based tests including T1 count and sequence kernel association test for rare variants (minor allele frequency <1%) did not yield statistically significant associations. However, we observed nominal associations for rare variants in [[CCDC71L]] and [[SLC17A3]] with cIMT and of the entire 7q22 region with plaque (P=0.05). Common and rare variants in [[PIK3CG]] and [[SLC17A4]] regions demonstrated modest association with subclinical atherosclerosis traits. Although not conclusive, these findings may help to understand the genetic architecture of regions previously implicated by genome-wide association studies and identify variants within these regions for further investigation in larger samples.
|mesh-terms=* Aged
* Aged, 80 and over
* Aging
* Atherosclerosis
* Class Ib Phosphatidylinositol 3-Kinase
* Cohort Studies
* European Continental Ancestry Group
* Female
* Genetic Variation
* Genome-Wide Association Study
* Genomics
* Humans
* Male
* Middle Aged
* Polymorphism, Single Nucleotide
* Sequence Analysis, DNA
* Sodium-Phosphate Cotransporter Proteins, Type I
|keywords=* atherosclerosis
* carotid artery, common
* epidemiology
* genetics
* plaque, atherosclerotic
* sequence analysis, DNA
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112104
}}