{{Rsnum
|rsid=1800012
|Gene=COL1A1
|Chromosome=17
|position=50200388
|Orientation=minus
|GMAF=0.1093
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=COL1A1
}}{{PMID|19193663}} [[rs1800012]](T;T) was significantly (p=0.031, OR=0.08, 95%CI <0.01 to 1.46) under-represented in South African participants with anterior cruciate ligament ruptures, based on a study of ~100 patients vs ~100 controls.

{{omim
|id=120150
|desc=COLLAGEN, TYPE I, ALPHA-1; COL1A1
|rsnum=1800012
}}

{{PharmGKB
|RSID=rs1800012
|Name_s=COL1A1 sp1
|Gene_s=COL1A1
|Feature=
|Evidence=PubMed ID:11547828; PubMed ID:11907712; PubMed ID:12810179; PubMed ID:16475872; PubMed ID:8841196; PubMed ID:9738510
|Annotation=This promoter variant affects an Sp1 binding site within a key regulatory region of COL1A1. It is associated with reduced bone mineral density (BMD) and increased susceptibility to osteoporotic fracture, particularly vertebral fractures in women.
|Drugs=etidronic acid
|Drug Classes=
|Diseases=Bone Diseases; Bone Diseases, Metabolic; Bone Resorption; Fractures, Bone; Osteogenesis Imperfecta; Osteoporosis
|Curation Level=Curated
|PharmGKB Accession ID=PA162355762
}}

{{omim
|id=120150
|rsnum=1800012
|variant=0051
}}

{{omim
|id=166710
|rsnum=1800012
}}

{{PMID Auto
|PMID=22174012
|Title=JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women
|OA=1
}}

{{PMID Auto
|PMID=22190259
|Title=COL1A1 haplotypes and hip fracture
}}

{{PMID Auto
|PMID=15113403
|Title=Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
|OA=1
}}

{{PMID Auto
|PMID=15157284
|Title=Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=16804049
|Title=Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women.
}}

{{PMID Auto
|PMID=17303000
|Title=Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families.
}}

{{PMID Auto
|PMID=17903296
|Title=Genome-wide association with bone mass and geometry in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=18353721
|Title=Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls.
}}

{{PMID Auto
|PMID=18787887
|Title=Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
|OA=1
}}

{{PMID Auto
|PMID=19016596
|Title=A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture.
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19841454
|Title=Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.
|OA=1
}}

{{PMID Auto
|PMID=20015871
|Title=Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia.
|OA=1
}}

{{PMID Auto
|PMID=20798928
|Title=Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies.
}}

{{PMID Auto
|PMID=21269451
|Title=Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system.
|OA=1
}}

{{PMID Auto
|PMID=21396799
|Title=Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw.
}}

{{PMID Auto
|PMID=22057139
|Title=A haplotype derived from the common variants at the -1997G/T and Sp1 binding site of the COL1A1 gene influences risk of postmenopausal osteoporosis in India.
}}

{{PMID Auto
|PMID=22066665
|Title=Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system.
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800012
|overall_frequency_n=11
|overall_frequency_d=124
|overall_frequency=0.0887097
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=0
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}