Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women
Bone mineral density (BMD) is the major factor for determining bone strength, which is closely correlated to osteoporotic fracture risk and is largely determined by multiple genetic factors. The RANK (TNFRSF11A), receptor for RANKL, is a member of the tumor necrosis factor receptor (TNFR) superfamil...
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| Veröffentlicht in: | Osteoporosis international 2007-03, Vol.18 (3), p.323-331 |
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| creator | KOH, J.-M PARK, B. L SHIN, H. D KIM, D. J KIM, G. S CHEONG, H. S KIM, T.-H HONG, J.-M SHIN, H.-I PARK, E. K KIM, S.-Y |
| description | Bone mineral density (BMD) is the major factor for determining bone strength, which is closely correlated to osteoporotic fracture risk and is largely determined by multiple genetic factors. The RANK (TNFRSF11A), receptor for RANKL, is a member of the tumor necrosis factor receptor (TNFR) superfamily and plays a central role in osteoclast development.
In order to investigate the effects of RANK polymorphism on BMD and osteoporosis, we directly sequenced the RANK gene in 24 Korean individuals and identified 25 sequence variants. Eleven of these polymorphisms were selected and genotyped in a larger-scale study of postmenopausal women (n = 560). Areal BMD (g/cm(2)) of the anterior-posterior lumbar spine and the nondominant proximal femur were measured using dual-energy X-ray absorptiometry.
We found that two intronic polymorphisms in the RANK gene [RANK + 34863G > A (rs12458117) and RANK + 35928insdelC (new polymorphism found in this study) in intron 6] were significantly associated with the BMD of the lumbar spine, i.e., rare alleles were significantly associated with low BMD of the lumbar spine among Korean postmenopausal women (p = 0.04 and 0.02, respectively). These polymorphisms were also associated with low BMD of proximal femur sites, including Ward's triangle, trochanter, and total femur. Our results suggest that +34863G > A and +35928insdelC polymorphisms in RANK are possible genetic factors for low BMD in postmenopausal women. |
| doi_str_mv | 10.1007/s00198-006-0244-5 |
| format | Article |
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In order to investigate the effects of RANK polymorphism on BMD and osteoporosis, we directly sequenced the RANK gene in 24 Korean individuals and identified 25 sequence variants. Eleven of these polymorphisms were selected and genotyped in a larger-scale study of postmenopausal women (n = 560). Areal BMD (g/cm(2)) of the anterior-posterior lumbar spine and the nondominant proximal femur were measured using dual-energy X-ray absorptiometry.
We found that two intronic polymorphisms in the RANK gene [RANK + 34863G > A (rs12458117) and RANK + 35928insdelC (new polymorphism found in this study) in intron 6] were significantly associated with the BMD of the lumbar spine, i.e., rare alleles were significantly associated with low BMD of the lumbar spine among Korean postmenopausal women (p = 0.04 and 0.02, respectively). These polymorphisms were also associated with low BMD of proximal femur sites, including Ward's triangle, trochanter, and total femur. Our results suggest that +34863G > A and +35928insdelC polymorphisms in RANK are possible genetic factors for low BMD in postmenopausal women.</description><identifier>ISSN: 0937-941X</identifier><identifier>EISSN: 1433-2965</identifier><identifier>DOI: 10.1007/s00198-006-0244-5</identifier><identifier>PMID: 17115234</identifier><language>eng</language><publisher>London: Springer</publisher><subject>Aged ; Aged, 80 and over ; Base Sequence ; Biological and medical sciences ; Bone density ; Bone Density - genetics ; Chromosomes, Human, Pair 18 - genetics ; Diseases of the osteoarticular system ; Female ; Femur Neck - physiopathology ; Genes ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Humans ; Lumbar Vertebrae - physiopathology ; Medical sciences ; Menopause ; Middle Aged ; Older people ; Osteoporosis ; Osteoporosis, Postmenopausal - genetics ; Osteoporosis, Postmenopausal - physiopathology ; Osteoporosis. Osteomalacia. Paget disease ; Polymorphism ; Polymorphism, Genetic ; Receptor Activator of Nuclear Factor-kappa B - genetics ; Women</subject><ispartof>Osteoporosis international, 2007-03, Vol.18 (3), p.323-331</ispartof><rights>2007 INIST-CNRS</rights><rights>International Osteoporosis Foundation and National Osteoporosis Foundation 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c418t-74d658b4471bd496b8b72caa793dea55a8773d8862cf1f0c17811d31560c9b3f3</citedby><cites>FETCH-LOGICAL-c418t-74d658b4471bd496b8b72caa793dea55a8773d8862cf1f0c17811d31560c9b3f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,778,782,27911,27912</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18583288$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17115234$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>KOH, J.-M</creatorcontrib><creatorcontrib>PARK, B. L</creatorcontrib><creatorcontrib>SHIN, H. D</creatorcontrib><creatorcontrib>KIM, D. J</creatorcontrib><creatorcontrib>KIM, G. S</creatorcontrib><creatorcontrib>CHEONG, H. S</creatorcontrib><creatorcontrib>KIM, T.-H</creatorcontrib><creatorcontrib>HONG, J.-M</creatorcontrib><creatorcontrib>SHIN, H.-I</creatorcontrib><creatorcontrib>PARK, E. K</creatorcontrib><creatorcontrib>KIM, S.-Y</creatorcontrib><title>Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women</title><title>Osteoporosis international</title><addtitle>Osteoporos Int</addtitle><description>Bone mineral density (BMD) is the major factor for determining bone strength, which is closely correlated to osteoporotic fracture risk and is largely determined by multiple genetic factors. The RANK (TNFRSF11A), receptor for RANKL, is a member of the tumor necrosis factor receptor (TNFR) superfamily and plays a central role in osteoclast development.
In order to investigate the effects of RANK polymorphism on BMD and osteoporosis, we directly sequenced the RANK gene in 24 Korean individuals and identified 25 sequence variants. Eleven of these polymorphisms were selected and genotyped in a larger-scale study of postmenopausal women (n = 560). Areal BMD (g/cm(2)) of the anterior-posterior lumbar spine and the nondominant proximal femur were measured using dual-energy X-ray absorptiometry.
We found that two intronic polymorphisms in the RANK gene [RANK + 34863G > A (rs12458117) and RANK + 35928insdelC (new polymorphism found in this study) in intron 6] were significantly associated with the BMD of the lumbar spine, i.e., rare alleles were significantly associated with low BMD of the lumbar spine among Korean postmenopausal women (p = 0.04 and 0.02, respectively). These polymorphisms were also associated with low BMD of proximal femur sites, including Ward's triangle, trochanter, and total femur. Our results suggest that +34863G > A and +35928insdelC polymorphisms in RANK are possible genetic factors for low BMD in postmenopausal women.</description><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Bone density</subject><subject>Bone Density - genetics</subject><subject>Chromosomes, Human, Pair 18 - genetics</subject><subject>Diseases of the osteoarticular system</subject><subject>Female</subject><subject>Femur Neck - physiopathology</subject><subject>Genes</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>Lumbar Vertebrae - physiopathology</subject><subject>Medical sciences</subject><subject>Menopause</subject><subject>Middle Aged</subject><subject>Older people</subject><subject>Osteoporosis</subject><subject>Osteoporosis, Postmenopausal - genetics</subject><subject>Osteoporosis, Postmenopausal - physiopathology</subject><subject>Osteoporosis. 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Paget disease</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Receptor Activator of Nuclear Factor-kappa B - genetics</subject><subject>Women</subject><issn>0937-941X</issn><issn>1433-2965</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqN0U1rFTEUBuAgir1Wf4AbCYLuRnMm38u2fhWrgii4C5lMxpsyk0yTmV76783lXii40VU48LyHE16EngN5A4TIt4UQ0KohRDSkZazhD9AGGKVNqwV_iDZEU9loBr9O0JNSrknNaC0foxOQALylbINuLnsflzAEZ5eQIk4DjunWj_j72dfPeE7j3ZTyvA1lKtjGHi9bHzKe16XyW49tKcmFQ3QXli0e0w6ff3mH7ZTi75ovy-Rjmu1a7Ih3qQ5P0aPBjsU_O76n6OeH9z8uPjVX3z5eXpxdNY6BWhrJesFVx5iErmdadKqTrbNWatp7y7lVUtJeKdG6AQbiQCqAngIXxOmODvQUvT7snXO6WX1ZzBSK8-Noo09rMUJp3RKl_wkrkkxQ-B8opFK0wpd_weu05lh_a1pQiksteUVwQC6nUrIfzJzDZPOdAWL29ZpDvabWa_b1mn3mxXHx2k2-v08c-6zg1RHY4uw4ZBtdKPdOcUXbeuIfmTatZA</recordid><startdate>20070301</startdate><enddate>20070301</enddate><creator>KOH, J.-M</creator><creator>PARK, B. 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L ; SHIN, H. D ; KIM, D. J ; KIM, G. S ; CHEONG, H. S ; KIM, T.-H ; HONG, J.-M ; SHIN, H.-I ; PARK, E. 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Osteomalacia. Paget disease</topic><topic>Polymorphism</topic><topic>Polymorphism, Genetic</topic><topic>Receptor Activator of Nuclear Factor-kappa B - genetics</topic><topic>Women</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KOH, J.-M</creatorcontrib><creatorcontrib>PARK, B. L</creatorcontrib><creatorcontrib>SHIN, H. D</creatorcontrib><creatorcontrib>KIM, D. J</creatorcontrib><creatorcontrib>KIM, G. S</creatorcontrib><creatorcontrib>CHEONG, H. S</creatorcontrib><creatorcontrib>KIM, T.-H</creatorcontrib><creatorcontrib>HONG, J.-M</creatorcontrib><creatorcontrib>SHIN, H.-I</creatorcontrib><creatorcontrib>PARK, E. 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L</au><au>SHIN, H. D</au><au>KIM, D. J</au><au>KIM, G. S</au><au>CHEONG, H. S</au><au>KIM, T.-H</au><au>HONG, J.-M</au><au>SHIN, H.-I</au><au>PARK, E. K</au><au>KIM, S.-Y</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women</atitle><jtitle>Osteoporosis international</jtitle><addtitle>Osteoporos Int</addtitle><date>2007-03-01</date><risdate>2007</risdate><volume>18</volume><issue>3</issue><spage>323</spage><epage>331</epage><pages>323-331</pages><issn>0937-941X</issn><eissn>1433-2965</eissn><abstract>Bone mineral density (BMD) is the major factor for determining bone strength, which is closely correlated to osteoporotic fracture risk and is largely determined by multiple genetic factors. The RANK (TNFRSF11A), receptor for RANKL, is a member of the tumor necrosis factor receptor (TNFR) superfamily and plays a central role in osteoclast development.
In order to investigate the effects of RANK polymorphism on BMD and osteoporosis, we directly sequenced the RANK gene in 24 Korean individuals and identified 25 sequence variants. Eleven of these polymorphisms were selected and genotyped in a larger-scale study of postmenopausal women (n = 560). Areal BMD (g/cm(2)) of the anterior-posterior lumbar spine and the nondominant proximal femur were measured using dual-energy X-ray absorptiometry.
We found that two intronic polymorphisms in the RANK gene [RANK + 34863G > A (rs12458117) and RANK + 35928insdelC (new polymorphism found in this study) in intron 6] were significantly associated with the BMD of the lumbar spine, i.e., rare alleles were significantly associated with low BMD of the lumbar spine among Korean postmenopausal women (p = 0.04 and 0.02, respectively). These polymorphisms were also associated with low BMD of proximal femur sites, including Ward's triangle, trochanter, and total femur. Our results suggest that +34863G > A and +35928insdelC polymorphisms in RANK are possible genetic factors for low BMD in postmenopausal women.</abstract><cop>London</cop><pub>Springer</pub><pmid>17115234</pmid><doi>10.1007/s00198-006-0244-5</doi><tpages>9</tpages></addata></record> |
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| subjects | Aged Aged, 80 and over Base Sequence Biological and medical sciences Bone density Bone Density - genetics Chromosomes, Human, Pair 18 - genetics Diseases of the osteoarticular system Female Femur Neck - physiopathology Genes Genetic Predisposition to Disease Genotype Haplotypes Humans Lumbar Vertebrae - physiopathology Medical sciences Menopause Middle Aged Older people Osteoporosis Osteoporosis, Postmenopausal - genetics Osteoporosis, Postmenopausal - physiopathology Osteoporosis. Osteomalacia. Paget disease Polymorphism Polymorphism, Genetic Receptor Activator of Nuclear Factor-kappa B - genetics Women |
| title | Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women |
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