Polymorphisms and haplotypes of integrinalpha1 (ITGA1) are associated with bone mineral density and fracture risk in postmenopausal Koreans
| Autor: | Kwang-Joong Kim, Jung Min Hong, Bermseok Oh, Kuchan Kimm, Jung Bok, Jong-Young Lee, Shin-Yoon Kim, Kyung-Seon Kim, Eui Kyun Park, Hyoung Doo Shin, Byung Lae Park, Mihyun Park, Ghi Su Kim, Duk Jae Kim, Jung-Min Koh, Hye-Ja Lee, Tae-Ho Kim |
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| Rok vydání: | 2007 |
| Předmět: |
Linkage disequilibrium
medicine.medical_specialty Pathology Histology Physiology Endocrinology Diabetes and Metabolism Osteoporosis Integrin alpha1 Poison control Single-nucleotide polymorphism Fractures Bone Bone Density Risk Factors Internal medicine medicine Humans Mesenchymal stem cell proliferation Osteoporosis Postmenopausal Bone mineral Korea Polymorphism Genetic business.industry Haplotype Middle Aged medicine.disease Minor allele frequency Endocrinology Haplotypes Chromosomes Human Pair 5 Female business |
| Zdroj: | Bone. 41(6) |
| ISSN: | 8756-3282 |
| Popis: | Introduction: ITGA1 is involved in the early remodeling of osteoarthritic cartilage and plays an essential role in the regulation of mesenchymal stem cell proliferation and cartilage production. We investigated the association between bone parameters and ITGA1 polymorphisms and their haplotype linkage disequilibrium (LD) blocks (BL_hts). Genetic susceptibility to osteoporosis was studied in 946 postmenopausal Korean women. Methods: We identified 67 genetic polymorphisms in ITGA1 region by direct sequencing (n=114). Eight SNPs were genotyped to further investigate their potential involvement in osteoporosis in postmenopausal women (n=946). Areal BMD of the lumbar spine and proximal femur was measured using dual-energy X-ray absorptiometry. Results: The SNPs, +73187CNT (exon 3) and +76969TNG (intron 5), and their BL_hts were associated with bone mineral density (BMD) at various femur sites (p=0.009–0.05). Moreover, +159174ANC (intron 28) and its haplotype BL3_ht1 showed a highly significant association with risk of non-vertebral fracture (p=0.002–0.005) and the minor allele of +159174ANC showed a protective effect. Conclusions: These results are suggestive of the association of ITGA1 with osteoporosis and related risk in postmenopausal women. |
| Databáze: | OpenAIRE |
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