2022
A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles
Carlson J, Krishnan M, Rosenthal S, Russell E, Zhang J, Hawley N, Moors J, Cheng H, Dalbeth N, de Zoysa J, Watson H, Qasim M, Murphy R, Naseri T, Reupena M, Viali S, Stamp L, Tuitele J, Kershaw E, Deka R, McGarvey S, Merriman T, Weeks D, Minster R. A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles. Human Genetics And Genomics Advances 2022, 4: 100155. PMID: 36340932, PMCID: PMC9630829, DOI: 10.1016/j.xhgg.2022.100155.Peer-Reviewed Original ResearchConceptsStop-gain variantUnique population historyFine-mapping analysisEuropean ancestry populationsGenetic architecturePolynesian populationsPopulation historyGenetic analysisAssociation studiesSuggestive associationPolynesian ancestryCurrent understandingEvidence of associationAmerican SamoaBiological foundationsVariantsGeneticsPopulationNew ZealandBTNL9Ancestry
2020
Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels
Carlson JC, Weeks DE, Hawley NL, Sun G, Cheng H, Naseri T, Reupena M, Tuitele J, Deka R, McGarvey ST, Minster RL. Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels. Journal Of Human Genetics 2020, 66: 111-121. PMID: 32759990, PMCID: PMC7785639, DOI: 10.1038/s10038-020-0816-9.Peer-Reviewed Original ResearchMeSH KeywordsAdultApolipoprotein A-IApolipoproteins ECholesterol Ester Transfer ProteinsCholesterol, HDLCholesterol, LDLCohort StudiesFastingFemaleGenetic MarkersGenome-Wide Association StudyHumansLipid MetabolismLipidsMaleMiddle AgedPolymorphism, Single NucleotideQuantitative Trait LociSamoaTriglyceridesConceptsGenome-wide association studiesGenetic architectureAssociation studiesGenome-wide significant associationDifferent association signalsUnique population historyPopulation bottlenecksLipid lociPopulation historyAssociation signalsSuggestive associationRab21Current understandingMGAT1Association of variantsReplication cohortLipidsBiological foundationsVariantsLociLow-density lipoproteinInsightsPopulationLipid levelsHigh-density lipoprotein