The association of eNOS gene polymorphism with avascular necrosis of femoral head
Necrosis of femoral head is a severe pathological state with multiple etiologies. This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of...
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description | Necrosis of femoral head is a severe pathological state with multiple etiologies. This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of femoral head (ANFH).
A total of 125 non-traumatic ANFH patients and 126 healthy controls were recruited for this study. The 27-bp repeat polymorphisms in intron 4 were analyzed by polymerase chain reaction (PCR) and sequencing. The G894T polymorphisms in exon 7 were analyzed by PCR- restriction fragment length polymorphism (PCR-RFLP) analysis.
All alleles were observed in non-traumatic ANFH patients and control subjects. Both ANFH patients and idiopathic subgroup of ANFH patients showed higher frequency of the 4a/b genotype than controls (p = 0.001 and p = 0.020, respectively). Significantly higher frequency of G/T genotype was observed in ANFH patients and idiopathic subgroup of ANFH patients compared to controls (p = 0.009 and p = 0.035, respectively).
eNOS gene polymorphisms may be a risk factor for ANFH. The 27-bp repeat polymorphism in intron 4, G894T polymorphism in exon 7, and subsequently reduced eNOS activity may be involved in the etiology of idiopathic ANFH. |
doi_str_mv | 10.1371/journal.pone.0087583 |
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A total of 125 non-traumatic ANFH patients and 126 healthy controls were recruited for this study. The 27-bp repeat polymorphisms in intron 4 were analyzed by polymerase chain reaction (PCR) and sequencing. The G894T polymorphisms in exon 7 were analyzed by PCR- restriction fragment length polymorphism (PCR-RFLP) analysis.
All alleles were observed in non-traumatic ANFH patients and control subjects. Both ANFH patients and idiopathic subgroup of ANFH patients showed higher frequency of the 4a/b genotype than controls (p = 0.001 and p = 0.020, respectively). Significantly higher frequency of G/T genotype was observed in ANFH patients and idiopathic subgroup of ANFH patients compared to controls (p = 0.009 and p = 0.035, respectively).
eNOS gene polymorphisms may be a risk factor for ANFH. The 27-bp repeat polymorphism in intron 4, G894T polymorphism in exon 7, and subsequently reduced eNOS activity may be involved in the etiology of idiopathic ANFH.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0087583</identifier><identifier>PMID: 24498338</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Aged ; Alcoholism ; Angiogenesis ; Arthritis ; Avascular necrosis ; Base Sequence ; Biology ; Cardiovascular disease ; Deoxyribonucleic acid ; Development and progression ; DNA ; DNA Mutational Analysis ; Endothelium ; Enzymes ; Etiology ; Exons - genetics ; Female ; Femur ; Femur Head Necrosis - genetics ; Gangrene ; Gene Frequency ; Gene polymorphism ; Genes ; Genetic aspects ; Genetic polymorphisms ; Genetic Predisposition to Disease - genetics ; Genotype ; Genotypes ; Hip joint ; Hospitals ; Humans ; Male ; Medical research ; Medicine ; Middle Aged ; Necrosis ; Nitric oxide ; Nitric Oxide Synthase Type III - genetics ; Nitric-oxide synthase ; Orthopedics ; Pathogenesis ; Patients ; Polymerase Chain Reaction ; Polymorphism ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide ; Repetitive Sequences, Nucleic Acid - genetics ; Restriction fragment length polymorphism ; Risk Factors ; Smoking ; Thrombosis ; Trauma</subject><ispartof>PloS one, 2014-02, Vol.9 (2), p.e87583-e87583</ispartof><rights>COPYRIGHT 2014 Public Library of Science</rights><rights>2014 Zheng et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2014 Zheng et al 2014 Zheng et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-ac2909eff849849dcb71f8d07584b9256f8204abb38cac7872bb081026fcc493</citedby><cites>FETCH-LOGICAL-c692t-ac2909eff849849dcb71f8d07584b9256f8204abb38cac7872bb081026fcc493</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3911980/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3911980/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,724,777,781,861,882,2096,2915,23847,27905,27906,53772,53774,79349,79350</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24498338$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Torkamani, Ali</contributor><creatorcontrib>Zheng, Liwen</creatorcontrib><creatorcontrib>Wang, Wanchun</creatorcontrib><creatorcontrib>Ni, Jiangdon</creatorcontrib><creatorcontrib>Li, Zhihong</creatorcontrib><creatorcontrib>Xiao, Tao</creatorcontrib><title>The association of eNOS gene polymorphism with avascular necrosis of femoral head</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Necrosis of femoral head is a severe pathological state with multiple etiologies. This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of femoral head (ANFH).
A total of 125 non-traumatic ANFH patients and 126 healthy controls were recruited for this study. The 27-bp repeat polymorphisms in intron 4 were analyzed by polymerase chain reaction (PCR) and sequencing. The G894T polymorphisms in exon 7 were analyzed by PCR- restriction fragment length polymorphism (PCR-RFLP) analysis.
All alleles were observed in non-traumatic ANFH patients and control subjects. Both ANFH patients and idiopathic subgroup of ANFH patients showed higher frequency of the 4a/b genotype than controls (p = 0.001 and p = 0.020, respectively). Significantly higher frequency of G/T genotype was observed in ANFH patients and idiopathic subgroup of ANFH patients compared to controls (p = 0.009 and p = 0.035, respectively).
eNOS gene polymorphisms may be a risk factor for ANFH. The 27-bp repeat polymorphism in intron 4, G894T polymorphism in exon 7, and subsequently reduced eNOS activity may be involved in the etiology of idiopathic ANFH.</description><subject>Adult</subject><subject>Aged</subject><subject>Alcoholism</subject><subject>Angiogenesis</subject><subject>Arthritis</subject><subject>Avascular necrosis</subject><subject>Base Sequence</subject><subject>Biology</subject><subject>Cardiovascular disease</subject><subject>Deoxyribonucleic acid</subject><subject>Development and progression</subject><subject>DNA</subject><subject>DNA Mutational Analysis</subject><subject>Endothelium</subject><subject>Enzymes</subject><subject>Etiology</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Femur</subject><subject>Femur Head Necrosis - genetics</subject><subject>Gangrene</subject><subject>Gene Frequency</subject><subject>Gene polymorphism</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic polymorphisms</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Hip joint</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Male</subject><subject>Medical research</subject><subject>Medicine</subject><subject>Middle Aged</subject><subject>Necrosis</subject><subject>Nitric oxide</subject><subject>Nitric Oxide Synthase Type III - genetics</subject><subject>Nitric-oxide synthase</subject><subject>Orthopedics</subject><subject>Pathogenesis</subject><subject>Patients</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Repetitive Sequences, Nucleic Acid - genetics</subject><subject>Restriction fragment length polymorphism</subject><subject>Risk Factors</subject><subject>Smoking</subject><subject>Thrombosis</subject><subject>Trauma</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNkl2L1DAUhoso7rr6D0QLgujFjPlqm9wIy-LHwOKgO3gbTtNkmiFtxqZd3X9vutNdprIXkouE5Hnf5Jy8SfISoyWmBf6w80PXglvufauXCPEi4_RRcooFJYucIPr4aH2SPAthh1BGeZ4_TU4IY4JTyk-T75tapxCCVxZ669vUm1R_W1-lW93qdO_dTeO7fW1Dk_62fZ3CNQQ1OOjSVqvOBxtGhdGRApfWGqrnyRMDLugX03yWbD5_2lx8XVyuv6wuzi8XKhekX4AiAgltDI9PYaJSZYENr1Asg5WCZLnhBDEoS8oVqIIXpCwRx4jkRikm6Fny-mC7dz7IqRlBYiYYyjJMikisDkTlYSf3nW2gu5EerLzd8N1WQtdb5bRkFRclZAUxTDGOuABWUWWqUmcMYwXR6-N021A2ulK67WO9M9P5SWtrufXXkgqMBUfR4N1k0Plfgw69bGxQ2jlotR9u3y0wIRTxiL75B324uonaQizAtsbHe9VoKs9ZwTnFXJBILR-g4qh0Y1VMjrFxfyZ4PxNEptd_-i0MIcjV1Y__Z9c_5-zbIzbmxPV18G4YMxfmIDuAY7pCp819kzGSY_DvuiHH4Msp-FH26viD7kV3Sad_AU72_ZU</recordid><startdate>20140203</startdate><enddate>20140203</enddate><creator>Zheng, Liwen</creator><creator>Wang, Wanchun</creator><creator>Ni, Jiangdon</creator><creator>Li, Zhihong</creator><creator>Xiao, Tao</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20140203</creationdate><title>The association of eNOS gene polymorphism with avascular necrosis of femoral head</title><author>Zheng, Liwen ; Wang, Wanchun ; Ni, Jiangdon ; Li, Zhihong ; Xiao, Tao</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-ac2909eff849849dcb71f8d07584b9256f8204abb38cac7872bb081026fcc493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Alcoholism</topic><topic>Angiogenesis</topic><topic>Arthritis</topic><topic>Avascular necrosis</topic><topic>Base Sequence</topic><topic>Biology</topic><topic>Cardiovascular disease</topic><topic>Deoxyribonucleic acid</topic><topic>Development and progression</topic><topic>DNA</topic><topic>DNA Mutational Analysis</topic><topic>Endothelium</topic><topic>Enzymes</topic><topic>Etiology</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Femur</topic><topic>Femur Head Necrosis - genetics</topic><topic>Gangrene</topic><topic>Gene Frequency</topic><topic>Gene polymorphism</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic polymorphisms</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Hip joint</topic><topic>Hospitals</topic><topic>Humans</topic><topic>Male</topic><topic>Medical research</topic><topic>Medicine</topic><topic>Middle Aged</topic><topic>Necrosis</topic><topic>Nitric oxide</topic><topic>Nitric Oxide Synthase Type III - genetics</topic><topic>Nitric-oxide synthase</topic><topic>Orthopedics</topic><topic>Pathogenesis</topic><topic>Patients</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Repetitive Sequences, Nucleic Acid - genetics</topic><topic>Restriction fragment length polymorphism</topic><topic>Risk Factors</topic><topic>Smoking</topic><topic>Thrombosis</topic><topic>Trauma</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zheng, Liwen</creatorcontrib><creatorcontrib>Wang, Wanchun</creatorcontrib><creatorcontrib>Ni, Jiangdon</creatorcontrib><creatorcontrib>Li, Zhihong</creatorcontrib><creatorcontrib>Xiao, Tao</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</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>ProQuest Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zheng, Liwen</au><au>Wang, Wanchun</au><au>Ni, Jiangdon</au><au>Li, Zhihong</au><au>Xiao, Tao</au><au>Torkamani, Ali</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The association of eNOS gene polymorphism with avascular necrosis of femoral head</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2014-02-03</date><risdate>2014</risdate><volume>9</volume><issue>2</issue><spage>e87583</spage><epage>e87583</epage><pages>e87583-e87583</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Necrosis of femoral head is a severe pathological state with multiple etiologies. This study investigated the association of the 27-bp repeat polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with the pathogenesis of avascular necrosis of femoral head (ANFH).
A total of 125 non-traumatic ANFH patients and 126 healthy controls were recruited for this study. The 27-bp repeat polymorphisms in intron 4 were analyzed by polymerase chain reaction (PCR) and sequencing. The G894T polymorphisms in exon 7 were analyzed by PCR- restriction fragment length polymorphism (PCR-RFLP) analysis.
All alleles were observed in non-traumatic ANFH patients and control subjects. Both ANFH patients and idiopathic subgroup of ANFH patients showed higher frequency of the 4a/b genotype than controls (p = 0.001 and p = 0.020, respectively). Significantly higher frequency of G/T genotype was observed in ANFH patients and idiopathic subgroup of ANFH patients compared to controls (p = 0.009 and p = 0.035, respectively).
eNOS gene polymorphisms may be a risk factor for ANFH. The 27-bp repeat polymorphism in intron 4, G894T polymorphism in exon 7, and subsequently reduced eNOS activity may be involved in the etiology of idiopathic ANFH.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24498338</pmid><doi>10.1371/journal.pone.0087583</doi><tpages>e87583</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Adult Aged Alcoholism Angiogenesis Arthritis Avascular necrosis Base Sequence Biology Cardiovascular disease Deoxyribonucleic acid Development and progression DNA DNA Mutational Analysis Endothelium Enzymes Etiology Exons - genetics Female Femur Femur Head Necrosis - genetics Gangrene Gene Frequency Gene polymorphism Genes Genetic aspects Genetic polymorphisms Genetic Predisposition to Disease - genetics Genotype Genotypes Hip joint Hospitals Humans Male Medical research Medicine Middle Aged Necrosis Nitric oxide Nitric Oxide Synthase Type III - genetics Nitric-oxide synthase Orthopedics Pathogenesis Patients Polymerase Chain Reaction Polymorphism Polymorphism, Genetic Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide Repetitive Sequences, Nucleic Acid - genetics Restriction fragment length polymorphism Risk Factors Smoking Thrombosis Trauma |
title | The association of eNOS gene polymorphism with avascular necrosis of femoral head |
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