ArticleBone2012
Copy number variation of the APC gene is associated with regulation of bone mineral density.
Article in Bone, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Review
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- Article
- Review
- Trabecular and cortical mandibular bone investigation in familial adenomatous polyposis patients.Scientific reports · 2021Article
- Dento-osseous anomalies in patients with familial adenomatous polyposis: A follow-up study.Clinical oral investigations · 2020Article
- Exome sequencing analysis identifies frequent oligogenic involvement andJournal of medical genetics · 2020Article
- Distal chromosome 16p11.2 duplications containingJournal of medical genetics · 2019Article
- A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.Oncotarget · 2017Article
- Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Adaptive potential of genomic structural variation in human and mammalian evolution.Briefings in functional genomics · 2015Review
- Are copy number variants associated with adolescent idiopathic scoliosis?Clinical orthopaedics and related research · 2014Article
- APC gene copy number significantly associated with bone mineral density in humans.BoneKEy reports · 2013Article
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
Abstract
introductionGenetic studies of osteoporosis have commonly examined SNPs in candidate genes or whole genome analyses, but insertions and deletions of DNA, collectively called copy number variations (CNVs), also comprise a large amount of the genetic variability between individuals. Previously, SNPs in the APC gene have been strongly associated with femoral neck and lumbar spine volumetric bone mineral density in older men. In addition, familial adenomatous polyposis patients carrying heterozygous mutations in the APC gene have been shown to have significantly higher mean bone mineral density than age- and sex-matched controls suggesting the importance of this gene in regulating bone mineral density. We examined CNV within the APC gene region to test for association with bone mineral density.
methodsDNA was extracted from venous blood, genotyped using the Human Hap610 arrays and CNV determined from the fluorescence intensity data in 2070 Caucasian men and women aged 47.0 ± 13.0 (mean ± SD) years, to assess the effects of the CNV on bone mineral density at the forearm, spine and total hip sites.
resultsData for covariate adjusted bone mineral density from subjects grouped by APC CNV genotype showed significant difference (P=0.02-0.002). Subjects with a single copy loss of APC had a 7.95%, 13.10% and 13.36% increase in bone mineral density at the forearm, spine and total hip sites respectively, compared to subjects with two copies of the APC gene.
conclusionsThese data support previous findings of APC regulating bone mineral density and demonstrate that a novel CNV of the APC gene is significantly associated with bone mineral density in Caucasian men and women.
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