0000000000649802

AUTHOR

Xiangjun Gu

showing 3 related works from this author

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function

2011

Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may p…

OncologyVital capacityPROTEINGenome-wide association studyBLOOD-PRESSUREVARIANTSPulmonary function testingPulmonary Disease Chronic Obstructive0302 clinical medicineEpidemiologyIMPUTATIONChild11 Medical and Health SciencesPOPULATIONGenetics & HeredityRISK0303 health scienceseducation.field_of_studyWOMENGENETIC-VARIATION3. Good healthRespiratory Function Testsmedicine.anatomical_structureMedical geneticsLife Sciences & BiomedicineEXPRESSIONmedicine.medical_specialtyMECOMPopulationEuropean Continental Ancestry GroupBiologyOBSTRUCTIVE PULMONARY-DISEASEArticleWhite People03 medical and health sciencesInternal medicineGeneticsmedicineHumanseducationMETAANALYSISPOLYMORPHISMS030304 developmental biologyLungScience & TechnologyMORTALITYGIANT consortiumInternational Lung Cancer Consortium06 Biological Sciences030228 respiratory systemImmunologylung; gene; gwasGenome-Wide Association StudyDevelopmental BiologyNature Genetics
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X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

2021

Background & aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). Results: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10-6; odds…

Canadian-US PBC Consortium0301 basic medicineMaleLinkage disequilibriumGenome-wide association studyDiseasePBCSettore MED/03 - GENETICA MEDICALinkage Disequilibrium0302 clinical medicineUK-PBC ConsortiumGenotypeMitochondrial Precursor Protein Import Complex ProteinsItalian PBC Genetics Study GroupOdds RatioX-Wide Association StudyJapan PBC-GWAS ConsortiumX chromosomeGeneticsLiver Cirrhosis BiliaryGastroenterologyForkhead Transcription FactorsDNA-Binding ProteinsShal Potassium Channels030211 gastroenterology & hepatologyFemaleAdultMonosaccharide Transport ProteinsSuperenhancerLocus (genetics)Single-nucleotide polymorphismBiologyProtein Serine-Threonine KinasesPolymorphism Single NucleotideArticleWhite People03 medical and health sciencesAsian PeopleProto-Oncogene ProteinsEndopeptidasesHumansCell LineageGenetic Predisposition to DiseaseMeta-analysiGenetic associationChromosomes Human XGastroenterology & HepatologyHepatology1103 Clinical SciencesMeta-analysis030104 developmental biologyGenetic Loci1114 Paediatrics and Reproductive MedicineMeta-analysis; Superenhancer; X-Wide Association Study1109 NeurosciencesCarrier ProteinsGenome-Wide Association Study
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Genome-wide association analysis identifies six new loci associated with forced vital capacity

2014

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P <5 x 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispani…

SpirometryLung DiseasesVital capacityQuantitative Trait LociVital CapacityGenome-wide association studyBiologyPolymorphism Single NucleotideArticleDISEASEPulmonary function testingCohort StudiesFEV1/FVC ratioIdiopathic pulmonary fibrosisSDG 3 - Good Health and Well-beingMeta-Analysis as TopicForced Expiratory VolumeDatabases GeneticGeneticsmedicineHumansRestrictive lung diseaseLung volumesGenetic Predisposition to Diseaselung; spriometry; SNP; geneGENE-EXPRESSIONGeneticsmedicine.diagnostic_testGenome HumanHERITABILITYHEALTHY TWINMORTALITYta3141respiratory systemmedicine.diseasePrognosis3. Good healthRespiratory Function Testsrespiratory tract diseasesFAMILYLUNG-FUNCTIONGenetic LociSpirometryImmunologyCELLSIDIOPATHIC PULMONARY-FIBROSISTRAITSFollow-Up StudiesGenome-Wide Association StudyNature Genetics
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