Gene: RSPO3

Alternate names for this Gene: CRISTIN1|PWTSR|THSD2

Gene Summary: This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development.

Gene is located in Chromosome: 6

Location in Chromosome : 6q22.33

Description of this Gene: R-spondin 3

Type of Gene: protein-coding

rs1892171 in RSPO3 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1936806 in RSPO3 gene and Blood urea nitrogen measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs2745353 in RSPO3 gene and Body mass index procedure PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs7741021 in RSPO3 gene and Bone Density PMID 24430505 2014 Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.

rs2503322 in RSPO3 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs2745353 in RSPO3 gene and Finding of body mass index PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs1936807 in RSPO3 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2489629 in RSPO3 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

rs141783576 in RSPO3 gene and Hip circumference PMID 31453325 2019 Genotype-by-environment interactions inferred from genetic effects on phenotypic variability in the UK Biobank.

rs1936807 in RSPO3 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs72959041 in RSPO3 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1936807 in RSPO3 gene and Red Blood Cell Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72959041 in RSPO3 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2503107 in RSPO3 gene and Serum urea measurement PMID 30808845 2019 Genome-Wide Association Scan of Serum Urea in European Populations Identifies Two Novel Loci.

rs1936805 in RSPO3 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs1936805 in RSPO3 gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs1936807 in RSPO3 gene and Triglycerides measurement PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2489623 in RSPO3 gene and Waist Circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs1936805 in RSPO3 gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 20935629 2010 Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.