Gene: ACAN

Alternate names for this Gene: AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK|SSOAOD

Gene Summary: This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: aggrecan

Type of Gene: protein-coding

rs28584580 in ACAN gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs11630187 in ACAN gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human 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 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

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

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

PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 25133637 2014 Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults.

rs267604368 in ACAN gene and Dysmorphic features PMID 12205105 2002 Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

PMID 17317784 2007 Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.

PMID 12626230 2003 Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism.

PMID 16080123 2005 A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.

PMID 20137779 2010 A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

PMID 18226555 2008 Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.

PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

PMID 27870580 2017 Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

PMID 1978986 1990 Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

PMID 21948754 2011 Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.

PMID 24762113 2014 Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

rs16942341 in ACAN gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

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

PMID 21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

rs16942333 in ACAN gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2280470 in ACAN gene and Infant length PMID 25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.

rs16942341 in ACAN gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs11854545 in ACAN gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs267604368 in ACAN gene and Multiple congenital anomalies PMID 12626230 2003 Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism.

PMID 21948754 2011 Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.

PMID 20137779 2010 A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

PMID 17317784 2007 Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.

PMID 24762113 2014 Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

PMID 27870580 2017 Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

PMID 18226555 2008 Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.

PMID 16080123 2005 A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.

PMID 12205105 2002 Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

PMID 1978986 1990 Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

rs1879529 in ACAN gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs16942333 in ACAN gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs11854545 in ACAN gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs16942333 in ACAN gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1879529 in ACAN gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs1879529 in ACAN 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.

rs121913568 in ACAN gene and Spondyloepimetaphyseal Dysplasia, Aggrecan Type PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.