Gene: LTBP1

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 2

Location in Chromosome : 2p22.3

Description of this Gene: latent transforming growth factor beta binding protein 1

Type of Gene: protein-coding

rs1545552 in LTBP1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.

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

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs12104955 in LTBP1 gene and Carpal Tunnel Syndrome PMID 30833571 2019 A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome.

rs115781177 in LTBP1 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs542631 in LTBP1 gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs2061027 in LTBP1 gene and Degenerative polyarthritis PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs1545552 in LTBP1 gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs115179432 in LTBP1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs3731572 in LTBP1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs4630744 in LTBP1 gene and Osteoarthritis of hip PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

rs17567417 in LTBP1 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

rs6715793 in LTBP1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs6715793 in LTBP1 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs6715793 in LTBP1 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.

rs115179432 in LTBP1 gene and Tonometry PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 29785010 2018 Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

rs62133340 in LTBP1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.