Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population
Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause acute pain, hospitalization, immobilization, and slow recovery in patients and are...
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BioMed Central
2016-12-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-14-216.pdf |
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| author | Tae-Joon Park Mi Yeong Hwang Sanghoon Moon Joo-Yeon Hwang Min Jin Go Bong-Jo Kim |
| author_facet | Tae-Joon Park Mi Yeong Hwang Sanghoon Moon Joo-Yeon Hwang Min Jin Go Bong-Jo Kim |
| author_sort | Tae-Joon Park |
| collection | DOAJ |
| description | Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause acute pain, hospitalization, immobilization, and slow recovery in patients and are associated with increased mortality. A variety of genetic studies have suggested associations of genetic variants with the risk of OF. Genome-wide association studies have reported various single-nucleotide polymorphisms and copy number variations (CNVs) in European and Asian populations. To identify CNV regions associated with OF risk, we conducted a genome-wide CNV study in a Korean population. We performed logistic regression analyses in 1,537 Korean subjects (299 OF cases and 1,238 healthy controls) and identified a total of 8 CNV regions significantly associated with OF (p < 0.05). Then, one CNV region located on chromosome 20q13.12 was selected for experimental validation. The selected CNV region was experimentally validated by quantitative polymerase chain reaction. The CNV region of chromosome 20q13.12 is positioned upstream of a family of long non-coding RNAs, LINC01260. Our findings could provide new information on the genetic factors associated with the risk of OF. |
| format | Article |
| id | doaj-art-6f84e6ba71ca4824ab5c47cd965d23bb |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2016-12-01 |
| publisher | BioMed Central |
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| series | Genomics & Informatics |
| spelling | doaj-art-6f84e6ba71ca4824ab5c47cd965d23bb2025-02-02T18:24:07ZengBioMed CentralGenomics & Informatics1598-866X2234-07422016-12-0114421622110.5808/GI.2016.14.4.216180Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean PopulationTae-Joon Park0Mi Yeong Hwang1Sanghoon Moon2Joo-Yeon Hwang3Min Jin Go4Bong-Jo Kim5Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Cheongju 28159, Korea.Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Cheongju 28159, Korea.Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Cheongju 28159, Korea.Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Cheongju 28159, Korea.Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Cheongju 28159, Korea.Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Health, Osong Health Technology Administration Complex, Cheongju 28159, Korea.Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause acute pain, hospitalization, immobilization, and slow recovery in patients and are associated with increased mortality. A variety of genetic studies have suggested associations of genetic variants with the risk of OF. Genome-wide association studies have reported various single-nucleotide polymorphisms and copy number variations (CNVs) in European and Asian populations. To identify CNV regions associated with OF risk, we conducted a genome-wide CNV study in a Korean population. We performed logistic regression analyses in 1,537 Korean subjects (299 OF cases and 1,238 healthy controls) and identified a total of 8 CNV regions significantly associated with OF (p < 0.05). Then, one CNV region located on chromosome 20q13.12 was selected for experimental validation. The selected CNV region was experimentally validated by quantitative polymerase chain reaction. The CNV region of chromosome 20q13.12 is positioned upstream of a family of long non-coding RNAs, LINC01260. Our findings could provide new information on the genetic factors associated with the risk of OF.http://genominfo.org/upload/pdf/gni-14-216.pdfDNA copy number variationsgenome-wide association studyosteoporotic fracturereal-time polymerase chain reaction |
| spellingShingle | Tae-Joon Park Mi Yeong Hwang Sanghoon Moon Joo-Yeon Hwang Min Jin Go Bong-Jo Kim Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population Genomics & Informatics DNA copy number variations genome-wide association study osteoporotic fracture real-time polymerase chain reaction |
| title | Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population |
| title_full | Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population |
| title_fullStr | Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population |
| title_full_unstemmed | Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population |
| title_short | Identification of a Copy Number Variation on Chromosome 20q13.12 Associated with Osteoporotic Fractures in the Korean Population |
| title_sort | identification of a copy number variation on chromosome 20q13 12 associated with osteoporotic fractures in the korean population |
| topic | DNA copy number variations genome-wide association study osteoporotic fracture real-time polymerase chain reaction |
| url | http://genominfo.org/upload/pdf/gni-14-216.pdf |
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