MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients
Objective. The MER receptor tyrosine kinase (MERTK) gene is critical for the efficient clearance of apoptotic cells and has implications for inflammation and autoimmune diseases such as systemic lupus erythematosus (SLE). We investigated the genetic polymorphisms in MERTK to evaluate it as a potenti...
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| Veröffentlicht in: | Rheumatology (Oxford, England) England), 2007-02, Vol.46 (2), p.209-214 |
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| creator | Cheong, H. S. Lee, S. O. Choi, C.-B. Sung, Y.-K. Shin, H. D. Bae, S.-C. |
| description | Objective. The MER receptor tyrosine kinase (MERTK) gene is critical for the efficient clearance of apoptotic cells and has implications for inflammation and autoimmune diseases such as systemic lupus erythematosus (SLE). We investigated the genetic polymorphisms in MERTK to evaluate it as a potential candidate gene for a host genetic study of SLE and clinical manifestations in patients with SLE.
Methods. By resequencing the coding and flanking regions of the MERTK gene in 24 unrelated Koreans, 37 polymorphisms were identified. Based on gene position, minor allele frequency and inter-single-nucleotide polymorphism (SNP) linkage disequilibrium, six of these polymorphisms were selected for subsequent genotyping and association analysis with the risk of SLE and haematological disorders in 350 Korean SLE patients and 330 controls.
Results. Although no significant associations with the risk of SLE were found, logistic regression analyses revealed that variants +465C > G (P = 0.05) and +130215insdelT (P = 0.0005) were significantly associated with decreased risk of leucopenia in SLE patients. Further, +465C > G, +95616G > A, +123157A > G and the haplotype ht1 also showed significant associations (P = 0.006-0.05) with a decreased risk of lymphopenia in SLE patients.
Conclusion. Our findings suggest that polymorphisms in MERTK might be one of the genetic risk factors for presenting leucopenia and lymphopenia in SLE patients. |
| doi_str_mv | 10.1093/rheumatology/kel182 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_68941740</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><oup_id>10.1093/rheumatology/kel182</oup_id><sourcerecordid>68941740</sourcerecordid><originalsourceid>FETCH-LOGICAL-c399t-58c0e0e380627370ea04b10356677b55b3368695fc3f3ee0d54bd0b02a4df8a63</originalsourceid><addsrcrecordid>eNqNkE1r3DAQhkVpaT5_QSCIQHPbZCRZsnwMYZuEbCm0yTVGtsdZJbblamzK_vt6WZOUnnqaOTzvO8PD2ImACwGZuoxrHFs3hCY8by5fsRFWfmD7IjFyAUrJj2-7TPbYAdELAGih7Ge2J4xVaZLqffb0bfnj4Z73odm0IfZrTy1xRxRK7was-G8_rHn09MpDzdcO54O-dA2vPIVYYZwCbeie-X2I6Dr-c7XkvRs8dgMdsU-1awiP53nIHr8uH65vF6vvN3fXV6tFqbJsWGhbAgIqC0amKgV0kBQClDYmTQutC6WMNZmuS1UrRKh0UlRQgHRJVVtn1CE73_X2MfwakYa89VRi07gOw0i5sVki0gQm8Owf8CWMsZt-y0WmjVZWb9vUDipjIIpY5330rYubXEC-dZ__7T7fuZ9Sp3P1WLRYvWdm2RPwZQYcTf7q6LrS0ztntZQgt9zFjgtj_1-X_wBoi6HW</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>195653856</pqid></control><display><type>article</type><title>MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients</title><source>MEDLINE</source><source>Oxford University Press Journals All Titles (1996-Current)</source><source>Alma/SFX Local Collection</source><creator>Cheong, H. S. ; Lee, S. O. ; Choi, C.-B. ; Sung, Y.-K. ; Shin, H. D. ; Bae, S.-C.</creator><creatorcontrib>Cheong, H. S. ; Lee, S. O. ; Choi, C.-B. ; Sung, Y.-K. ; Shin, H. D. ; Bae, S.-C.</creatorcontrib><description>Objective. The MER receptor tyrosine kinase (MERTK) gene is critical for the efficient clearance of apoptotic cells and has implications for inflammation and autoimmune diseases such as systemic lupus erythematosus (SLE). We investigated the genetic polymorphisms in MERTK to evaluate it as a potential candidate gene for a host genetic study of SLE and clinical manifestations in patients with SLE.
Methods. By resequencing the coding and flanking regions of the MERTK gene in 24 unrelated Koreans, 37 polymorphisms were identified. Based on gene position, minor allele frequency and inter-single-nucleotide polymorphism (SNP) linkage disequilibrium, six of these polymorphisms were selected for subsequent genotyping and association analysis with the risk of SLE and haematological disorders in 350 Korean SLE patients and 330 controls.
Results. Although no significant associations with the risk of SLE were found, logistic regression analyses revealed that variants +465C > G (P = 0.05) and +130215insdelT (P = 0.0005) were significantly associated with decreased risk of leucopenia in SLE patients. Further, +465C > G, +95616G > A, +123157A > G and the haplotype ht1 also showed significant associations (P = 0.006-0.05) with a decreased risk of lymphopenia in SLE patients.
Conclusion. Our findings suggest that polymorphisms in MERTK might be one of the genetic risk factors for presenting leucopenia and lymphopenia in SLE patients.</description><identifier>ISSN: 1462-0324</identifier><identifier>EISSN: 1462-0332</identifier><identifier>DOI: 10.1093/rheumatology/kel182</identifier><identifier>PMID: 16837475</identifier><identifier>CODEN: BJRHDF</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Adolescent ; Adult ; Aged ; Biological and medical sciences ; c-Mer Tyrosine Kinase ; Child ; Chromosomes, Human, Pair 2 - genetics ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Leukopenia - etiology ; Leukopenia - genetics ; Lupus Erythematosus, Systemic - complications ; Lupus Erythematosus, Systemic - genetics ; Lymphopenia - etiology ; Lymphopenia - genetics ; Male ; Medical sciences ; Middle Aged ; Polymorphism, Genetic ; Proto-Oncogene Proteins - genetics ; Receptor Protein-Tyrosine Kinases - genetics ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</subject><ispartof>Rheumatology (Oxford, England), 2007-02, Vol.46 (2), p.209-214</ispartof><rights>The Author 2006. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org 2006</rights><rights>2007 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) Feb 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-58c0e0e380627370ea04b10356677b55b3368695fc3f3ee0d54bd0b02a4df8a63</citedby><cites>FETCH-LOGICAL-c399t-58c0e0e380627370ea04b10356677b55b3368695fc3f3ee0d54bd0b02a4df8a63</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,1585,27929,27930</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18522025$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16837475$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cheong, H. S.</creatorcontrib><creatorcontrib>Lee, S. O.</creatorcontrib><creatorcontrib>Choi, C.-B.</creatorcontrib><creatorcontrib>Sung, Y.-K.</creatorcontrib><creatorcontrib>Shin, H. D.</creatorcontrib><creatorcontrib>Bae, S.-C.</creatorcontrib><title>MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients</title><title>Rheumatology (Oxford, England)</title><addtitle>Rheumatology (Oxford)</addtitle><description>Objective. The MER receptor tyrosine kinase (MERTK) gene is critical for the efficient clearance of apoptotic cells and has implications for inflammation and autoimmune diseases such as systemic lupus erythematosus (SLE). We investigated the genetic polymorphisms in MERTK to evaluate it as a potential candidate gene for a host genetic study of SLE and clinical manifestations in patients with SLE.
Methods. By resequencing the coding and flanking regions of the MERTK gene in 24 unrelated Koreans, 37 polymorphisms were identified. Based on gene position, minor allele frequency and inter-single-nucleotide polymorphism (SNP) linkage disequilibrium, six of these polymorphisms were selected for subsequent genotyping and association analysis with the risk of SLE and haematological disorders in 350 Korean SLE patients and 330 controls.
Results. Although no significant associations with the risk of SLE were found, logistic regression analyses revealed that variants +465C > G (P = 0.05) and +130215insdelT (P = 0.0005) were significantly associated with decreased risk of leucopenia in SLE patients. Further, +465C > G, +95616G > A, +123157A > G and the haplotype ht1 also showed significant associations (P = 0.006-0.05) with a decreased risk of lymphopenia in SLE patients.
Conclusion. Our findings suggest that polymorphisms in MERTK might be one of the genetic risk factors for presenting leucopenia and lymphopenia in SLE patients.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>c-Mer Tyrosine Kinase</subject><subject>Child</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Humans</subject><subject>Leukopenia - etiology</subject><subject>Leukopenia - genetics</subject><subject>Lupus Erythematosus, Systemic - complications</subject><subject>Lupus Erythematosus, Systemic - genetics</subject><subject>Lymphopenia - etiology</subject><subject>Lymphopenia - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Polymorphism, Genetic</subject><subject>Proto-Oncogene Proteins - genetics</subject><subject>Receptor Protein-Tyrosine Kinases - genetics</subject><subject>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</subject><issn>1462-0324</issn><issn>1462-0332</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkE1r3DAQhkVpaT5_QSCIQHPbZCRZsnwMYZuEbCm0yTVGtsdZJbblamzK_vt6WZOUnnqaOTzvO8PD2ImACwGZuoxrHFs3hCY8by5fsRFWfmD7IjFyAUrJj2-7TPbYAdELAGih7Ge2J4xVaZLqffb0bfnj4Z73odm0IfZrTy1xRxRK7was-G8_rHn09MpDzdcO54O-dA2vPIVYYZwCbeie-X2I6Dr-c7XkvRs8dgMdsU-1awiP53nIHr8uH65vF6vvN3fXV6tFqbJsWGhbAgIqC0amKgV0kBQClDYmTQutC6WMNZmuS1UrRKh0UlRQgHRJVVtn1CE73_X2MfwakYa89VRi07gOw0i5sVki0gQm8Owf8CWMsZt-y0WmjVZWb9vUDipjIIpY5330rYubXEC-dZ__7T7fuZ9Sp3P1WLRYvWdm2RPwZQYcTf7q6LrS0ztntZQgt9zFjgtj_1-X_wBoi6HW</recordid><startdate>20070201</startdate><enddate>20070201</enddate><creator>Cheong, H. S.</creator><creator>Lee, S. O.</creator><creator>Choi, C.-B.</creator><creator>Sung, Y.-K.</creator><creator>Shin, H. D.</creator><creator>Bae, S.-C.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>IQODW</scope><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>7QP</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>20070201</creationdate><title>MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients</title><author>Cheong, H. S. ; Lee, S. O. ; Choi, C.-B. ; Sung, Y.-K. ; Shin, H. D. ; Bae, S.-C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-58c0e0e380627370ea04b10356677b55b3368695fc3f3ee0d54bd0b02a4df8a63</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>c-Mer Tyrosine Kinase</topic><topic>Child</topic><topic>Chromosomes, Human, Pair 2 - genetics</topic><topic>Female</topic><topic>Gene Frequency</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Humans</topic><topic>Leukopenia - etiology</topic><topic>Leukopenia - genetics</topic><topic>Lupus Erythematosus, Systemic - complications</topic><topic>Lupus Erythematosus, Systemic - genetics</topic><topic>Lymphopenia - etiology</topic><topic>Lymphopenia - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Polymorphism, Genetic</topic><topic>Proto-Oncogene Proteins - genetics</topic><topic>Receptor Protein-Tyrosine Kinases - genetics</topic><topic>Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cheong, H. S.</creatorcontrib><creatorcontrib>Lee, S. O.</creatorcontrib><creatorcontrib>Choi, C.-B.</creatorcontrib><creatorcontrib>Sung, Y.-K.</creatorcontrib><creatorcontrib>Shin, H. D.</creatorcontrib><creatorcontrib>Bae, S.-C.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Rheumatology (Oxford, England)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cheong, H. S.</au><au>Lee, S. O.</au><au>Choi, C.-B.</au><au>Sung, Y.-K.</au><au>Shin, H. D.</au><au>Bae, S.-C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients</atitle><jtitle>Rheumatology (Oxford, England)</jtitle><addtitle>Rheumatology (Oxford)</addtitle><date>2007-02-01</date><risdate>2007</risdate><volume>46</volume><issue>2</issue><spage>209</spage><epage>214</epage><pages>209-214</pages><issn>1462-0324</issn><eissn>1462-0332</eissn><coden>BJRHDF</coden><abstract>Objective. The MER receptor tyrosine kinase (MERTK) gene is critical for the efficient clearance of apoptotic cells and has implications for inflammation and autoimmune diseases such as systemic lupus erythematosus (SLE). We investigated the genetic polymorphisms in MERTK to evaluate it as a potential candidate gene for a host genetic study of SLE and clinical manifestations in patients with SLE.
Methods. By resequencing the coding and flanking regions of the MERTK gene in 24 unrelated Koreans, 37 polymorphisms were identified. Based on gene position, minor allele frequency and inter-single-nucleotide polymorphism (SNP) linkage disequilibrium, six of these polymorphisms were selected for subsequent genotyping and association analysis with the risk of SLE and haematological disorders in 350 Korean SLE patients and 330 controls.
Results. Although no significant associations with the risk of SLE were found, logistic regression analyses revealed that variants +465C > G (P = 0.05) and +130215insdelT (P = 0.0005) were significantly associated with decreased risk of leucopenia in SLE patients. Further, +465C > G, +95616G > A, +123157A > G and the haplotype ht1 also showed significant associations (P = 0.006-0.05) with a decreased risk of lymphopenia in SLE patients.
Conclusion. Our findings suggest that polymorphisms in MERTK might be one of the genetic risk factors for presenting leucopenia and lymphopenia in SLE patients.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>16837475</pmid><doi>10.1093/rheumatology/kel182</doi><tpages>6</tpages></addata></record> |
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| source | MEDLINE; Oxford University Press Journals All Titles (1996-Current); Alma/SFX Local Collection |
| subjects | Adolescent Adult Aged Biological and medical sciences c-Mer Tyrosine Kinase Child Chromosomes, Human, Pair 2 - genetics Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Leukopenia - etiology Leukopenia - genetics Lupus Erythematosus, Systemic - complications Lupus Erythematosus, Systemic - genetics Lymphopenia - etiology Lymphopenia - genetics Male Medical sciences Middle Aged Polymorphism, Genetic Proto-Oncogene Proteins - genetics Receptor Protein-Tyrosine Kinases - genetics Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis |
| title | MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients |
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