Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure
Summary Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlat...
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| Veröffentlicht in: | Osteoporosis international 2016-11, Vol.27 (11), p.3331-3341 |
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| description | Summary
Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well with the underlying biochemical and molecular abnormalities.
Introduction
OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout the body. The purpose of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure.
Methods
The study comprised 85 OI patients aged 45 (19–78) years, Sillence type I (
n
= 58), III (
n
= 12), and IV (
n
= 15). All patients underwent DXA, HRpQCT, spine X-ray, biochemical testing, and anthropometry.
COL1A1
and
COL1A2
were sequenced and 68 OI causing mutations identified (46 in
COL1A1
, 22 in
COL1A2
). Analysis of COL-1 structure (quantitative/qualitative defect) by SDS-PAGE was performed in a subset (
n
= 67).
Results
A qualitative collagen defect predisposed to a more severe phenotype with reduced aBMD, more fractures, and affected anthropometry compared to patients with a quantitative COL-1 defect (
p
|
| doi_str_mv | 10.1007/s00198-016-3653-0 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1855081156</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1855081156</sourcerecordid><originalsourceid>FETCH-LOGICAL-c405t-d12256d6a3c54df35fd5d0806c9e26fbfda936c926bd921acf9ff380b316d34a3</originalsourceid><addsrcrecordid>eNqFkc9uVCEYxYnR2Gn1Adw0JG7c3JY_F-5l2UzUmkzShZq4Iwx8TG-9A7fAjenOhY_gE_okMs5UkyaNqy_A7xwOHIReUXJGCenOMyFU9Q2hsuFS8IY8QQvact4wJcVTtCCKd41q6ZcjdJzzDakapbrn6Ih1TEjO-QL9-PgVRihmxNM1hFjuJsh4CNi4eSx4MmWAUDL-NpRrHHOBuIEAeajMdoLkwRbz6_tPG1OCscIxHNjl1Ype0PM_g-HNwRqb4LCN42jqDs4lzbbMCV6gZ96MGV4e5gn6_O7tp-Vls7p6_2F5sWpsS0RpHGU1tpOGW9E6z4V3wpGeSKuASb_2ziheF0yunWLUWK-85z1Zcyodbw0_QW_2vlOKtzPkordDtlDjBIhz1rQXgvSU1r_5P8qkVEKJvqKvH6A3cU6hPkQzsovXdnJnSPeUTTHnBF5PadiadKcp0bs29b5NXdvUuzY1qZrTg_O83oL7q7ivrwJsD-R6FDaQ_l39uOtvQH-sjg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2008064766</pqid></control><display><type>article</type><title>Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>Hald, J. D. ; Folkestad, L. ; Harsløf, T. ; Lund, A. M. ; Duno, M. ; Jensen, J. B. ; Neghabat, S. ; Brixen, K. ; Langdahl, B.</creator><creatorcontrib>Hald, J. D. ; Folkestad, L. ; Harsløf, T. ; Lund, A. M. ; Duno, M. ; Jensen, J. B. ; Neghabat, S. ; Brixen, K. ; Langdahl, B.</creatorcontrib><description>Summary
Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well with the underlying biochemical and molecular abnormalities.
Introduction
OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout the body. The purpose of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure.
Methods
The study comprised 85 OI patients aged 45 (19–78) years, Sillence type I (
n
= 58), III (
n
= 12), and IV (
n
= 15). All patients underwent DXA, HRpQCT, spine X-ray, biochemical testing, and anthropometry.
COL1A1
and
COL1A2
were sequenced and 68 OI causing mutations identified (46 in
COL1A1
, 22 in
COL1A2
). Analysis of COL-1 structure (quantitative/qualitative defect) by SDS-PAGE was performed in a subset (
n
= 67).
Results
A qualitative collagen defect predisposed to a more severe phenotype with reduced aBMD, more fractures, and affected anthropometry compared to patients with a quantitative COL-1 defect (
p
< 0.05). HRpQCT revealed significant differences between patients with OI type I and IV. Patients with type I had lower vBMD (
p
< 0.005), thinner cortexes (
p
< 0.001), and reduced trabecular number (
p
< 0.005) compared to patients with type IV indicating that HRpQCT may distinguish type I from type IV better than DXA.
Conclusion
The defective collagen in patients with OI has pronounced effects on the skeleton. The classical OI types based on the clinical classification show profound differences in bone mass and architecture and the differences correlate well with the underlying biochemical and molecular collagen abnormalities.</description><identifier>ISSN: 0937-941X</identifier><identifier>EISSN: 1433-2965</identifier><identifier>DOI: 10.1007/s00198-016-3653-0</identifier><identifier>PMID: 27256333</identifier><language>eng</language><publisher>London: Springer London</publisher><subject>Adult ; Aged ; Anthropometry ; Bone Density ; Bone mass ; Collagen ; Collagen (type I) ; Collagen Type I - genetics ; Cross-Sectional Studies ; Defects ; Dual energy X-ray absorptiometry ; Endocrinology ; Female ; Fractures ; Gel electrophoresis ; Genotype ; Genotypes ; Humans ; Male ; Medicine ; Medicine & Public Health ; Middle Aged ; Mutation ; Original Article ; Orthopedics ; Osteogenesis ; Osteogenesis imperfecta ; Osteogenesis Imperfecta - genetics ; Osteoporosis ; Phenotype ; Phenotypes ; Rheumatology ; Skeleton ; Sodium lauryl sulfate ; Spine ; Young Adult</subject><ispartof>Osteoporosis international, 2016-11, Vol.27 (11), p.3331-3341</ispartof><rights>International Osteoporosis Foundation and National Osteoporosis Foundation 2016</rights><rights>Osteoporosis International is a copyright of Springer, (2016). All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c405t-d12256d6a3c54df35fd5d0806c9e26fbfda936c926bd921acf9ff380b316d34a3</citedby><cites>FETCH-LOGICAL-c405t-d12256d6a3c54df35fd5d0806c9e26fbfda936c926bd921acf9ff380b316d34a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00198-016-3653-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00198-016-3653-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27256333$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hald, J. D.</creatorcontrib><creatorcontrib>Folkestad, L.</creatorcontrib><creatorcontrib>Harsløf, T.</creatorcontrib><creatorcontrib>Lund, A. M.</creatorcontrib><creatorcontrib>Duno, M.</creatorcontrib><creatorcontrib>Jensen, J. B.</creatorcontrib><creatorcontrib>Neghabat, S.</creatorcontrib><creatorcontrib>Brixen, K.</creatorcontrib><creatorcontrib>Langdahl, B.</creatorcontrib><title>Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure</title><title>Osteoporosis international</title><addtitle>Osteoporos Int</addtitle><addtitle>Osteoporos Int</addtitle><description>Summary
Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well with the underlying biochemical and molecular abnormalities.
Introduction
OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout the body. The purpose of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure.
Methods
The study comprised 85 OI patients aged 45 (19–78) years, Sillence type I (
n
= 58), III (
n
= 12), and IV (
n
= 15). All patients underwent DXA, HRpQCT, spine X-ray, biochemical testing, and anthropometry.
COL1A1
and
COL1A2
were sequenced and 68 OI causing mutations identified (46 in
COL1A1
, 22 in
COL1A2
). Analysis of COL-1 structure (quantitative/qualitative defect) by SDS-PAGE was performed in a subset (
n
= 67).
Results
A qualitative collagen defect predisposed to a more severe phenotype with reduced aBMD, more fractures, and affected anthropometry compared to patients with a quantitative COL-1 defect (
p
< 0.05). HRpQCT revealed significant differences between patients with OI type I and IV. Patients with type I had lower vBMD (
p
< 0.005), thinner cortexes (
p
< 0.001), and reduced trabecular number (
p
< 0.005) compared to patients with type IV indicating that HRpQCT may distinguish type I from type IV better than DXA.
Conclusion
The defective collagen in patients with OI has pronounced effects on the skeleton. The classical OI types based on the clinical classification show profound differences in bone mass and architecture and the differences correlate well with the underlying biochemical and molecular collagen abnormalities.</description><subject>Adult</subject><subject>Aged</subject><subject>Anthropometry</subject><subject>Bone Density</subject><subject>Bone mass</subject><subject>Collagen</subject><subject>Collagen (type I)</subject><subject>Collagen Type I - genetics</subject><subject>Cross-Sectional Studies</subject><subject>Defects</subject><subject>Dual energy X-ray absorptiometry</subject><subject>Endocrinology</subject><subject>Female</subject><subject>Fractures</subject><subject>Gel electrophoresis</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Original Article</subject><subject>Orthopedics</subject><subject>Osteogenesis</subject><subject>Osteogenesis imperfecta</subject><subject>Osteogenesis Imperfecta - genetics</subject><subject>Osteoporosis</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Rheumatology</subject><subject>Skeleton</subject><subject>Sodium lauryl sulfate</subject><subject>Spine</subject><subject>Young Adult</subject><issn>0937-941X</issn><issn>1433-2965</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkc9uVCEYxYnR2Gn1Adw0JG7c3JY_F-5l2UzUmkzShZq4Iwx8TG-9A7fAjenOhY_gE_okMs5UkyaNqy_A7xwOHIReUXJGCenOMyFU9Q2hsuFS8IY8QQvact4wJcVTtCCKd41q6ZcjdJzzDakapbrn6Ih1TEjO-QL9-PgVRihmxNM1hFjuJsh4CNi4eSx4MmWAUDL-NpRrHHOBuIEAeajMdoLkwRbz6_tPG1OCscIxHNjl1Ype0PM_g-HNwRqb4LCN42jqDs4lzbbMCV6gZ96MGV4e5gn6_O7tp-Vls7p6_2F5sWpsS0RpHGU1tpOGW9E6z4V3wpGeSKuASb_2ziheF0yunWLUWK-85z1Zcyodbw0_QW_2vlOKtzPkordDtlDjBIhz1rQXgvSU1r_5P8qkVEKJvqKvH6A3cU6hPkQzsovXdnJnSPeUTTHnBF5PadiadKcp0bs29b5NXdvUuzY1qZrTg_O83oL7q7ivrwJsD-R6FDaQ_l39uOtvQH-sjg</recordid><startdate>20161101</startdate><enddate>20161101</enddate><creator>Hald, J. D.</creator><creator>Folkestad, L.</creator><creator>Harsløf, T.</creator><creator>Lund, A. M.</creator><creator>Duno, M.</creator><creator>Jensen, J. B.</creator><creator>Neghabat, S.</creator><creator>Brixen, K.</creator><creator>Langdahl, B.</creator><general>Springer London</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7QP</scope><scope>7RV</scope><scope>7TS</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20161101</creationdate><title>Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure</title><author>Hald, J. D. ; Folkestad, L. ; Harsløf, T. ; Lund, A. M. ; Duno, M. ; Jensen, J. B. ; Neghabat, S. ; Brixen, K. ; Langdahl, B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c405t-d12256d6a3c54df35fd5d0806c9e26fbfda936c926bd921acf9ff380b316d34a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Anthropometry</topic><topic>Bone Density</topic><topic>Bone mass</topic><topic>Collagen</topic><topic>Collagen (type I)</topic><topic>Collagen Type I - genetics</topic><topic>Cross-Sectional Studies</topic><topic>Defects</topic><topic>Dual energy X-ray absorptiometry</topic><topic>Endocrinology</topic><topic>Female</topic><topic>Fractures</topic><topic>Gel electrophoresis</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Original Article</topic><topic>Orthopedics</topic><topic>Osteogenesis</topic><topic>Osteogenesis imperfecta</topic><topic>Osteogenesis Imperfecta - genetics</topic><topic>Osteoporosis</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Rheumatology</topic><topic>Skeleton</topic><topic>Sodium lauryl sulfate</topic><topic>Spine</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hald, J. D.</creatorcontrib><creatorcontrib>Folkestad, L.</creatorcontrib><creatorcontrib>Harsløf, T.</creatorcontrib><creatorcontrib>Lund, A. M.</creatorcontrib><creatorcontrib>Duno, M.</creatorcontrib><creatorcontrib>Jensen, J. B.</creatorcontrib><creatorcontrib>Neghabat, S.</creatorcontrib><creatorcontrib>Brixen, K.</creatorcontrib><creatorcontrib>Langdahl, B.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Physical Education Index</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Osteoporosis international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hald, J. D.</au><au>Folkestad, L.</au><au>Harsløf, T.</au><au>Lund, A. M.</au><au>Duno, M.</au><au>Jensen, J. B.</au><au>Neghabat, S.</au><au>Brixen, K.</au><au>Langdahl, B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure</atitle><jtitle>Osteoporosis international</jtitle><stitle>Osteoporos Int</stitle><addtitle>Osteoporos Int</addtitle><date>2016-11-01</date><risdate>2016</risdate><volume>27</volume><issue>11</issue><spage>3331</spage><epage>3341</epage><pages>3331-3341</pages><issn>0937-941X</issn><eissn>1433-2965</eissn><abstract>Summary
Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well with the underlying biochemical and molecular abnormalities.
Introduction
OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout the body. The purpose of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure.
Methods
The study comprised 85 OI patients aged 45 (19–78) years, Sillence type I (
n
= 58), III (
n
= 12), and IV (
n
= 15). All patients underwent DXA, HRpQCT, spine X-ray, biochemical testing, and anthropometry.
COL1A1
and
COL1A2
were sequenced and 68 OI causing mutations identified (46 in
COL1A1
, 22 in
COL1A2
). Analysis of COL-1 structure (quantitative/qualitative defect) by SDS-PAGE was performed in a subset (
n
= 67).
Results
A qualitative collagen defect predisposed to a more severe phenotype with reduced aBMD, more fractures, and affected anthropometry compared to patients with a quantitative COL-1 defect (
p
< 0.05). HRpQCT revealed significant differences between patients with OI type I and IV. Patients with type I had lower vBMD (
p
< 0.005), thinner cortexes (
p
< 0.001), and reduced trabecular number (
p
< 0.005) compared to patients with type IV indicating that HRpQCT may distinguish type I from type IV better than DXA.
Conclusion
The defective collagen in patients with OI has pronounced effects on the skeleton. The classical OI types based on the clinical classification show profound differences in bone mass and architecture and the differences correlate well with the underlying biochemical and molecular collagen abnormalities.</abstract><cop>London</cop><pub>Springer London</pub><pmid>27256333</pmid><doi>10.1007/s00198-016-3653-0</doi><tpages>11</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0937-941X |
| ispartof | Osteoporosis international, 2016-11, Vol.27 (11), p.3331-3341 |
| issn | 0937-941X 1433-2965 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals |
| subjects | Adult Aged Anthropometry Bone Density Bone mass Collagen Collagen (type I) Collagen Type I - genetics Cross-Sectional Studies Defects Dual energy X-ray absorptiometry Endocrinology Female Fractures Gel electrophoresis Genotype Genotypes Humans Male Medicine Medicine & Public Health Middle Aged Mutation Original Article Orthopedics Osteogenesis Osteogenesis imperfecta Osteogenesis Imperfecta - genetics Osteoporosis Phenotype Phenotypes Rheumatology Skeleton Sodium lauryl sulfate Spine Young Adult |
| title | Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure |
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