Lack of association of CFD polymorphisms with advanced age-related macular degeneration
Age-related macular degeneration (AMD) is the most common cause of irreversible central vision loss worldwide. Research has linked AMD susceptibility with dysregulation of the complement cascade. Typically, complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), and comple...
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| Veröffentlicht in: | Molecular vision 2010-11, Vol.16, p.2273-2278 |
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| creator | Zeng, Jiexi Chen, Yuhong Tong, Zongzhong Zhou, Xinrong Zhao, Chao Wang, Kevin Hughes, Guy Kasuga, Daniel Bedell, Matthew Lee, Clara Ferreyra, Henry Kozak, Igor Haw, Weldon Guan, Jean Shaw, Robert Stevenson, William Weishaar, Paul D Nelson, Mark H Tang, Luosheng Zhang, Kang |
| description | Age-related macular degeneration (AMD) is the most common cause of irreversible central vision loss worldwide. Research has linked AMD susceptibility with dysregulation of the complement cascade. Typically, complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), and complement component 3 (C3) are associated with AMD. In this paper, we investigated the association between complement factor D (CFD), another factor of the complement system, and advanced AMD in a Caucasian population.
Six single nucleotide polymorphisms (SNPs), rs1683564, rs35186399, rs1683563, rs3826945, rs34337649, and rs1651896, across the region covering CFD, were chosen for this study. One hundred and seventy-eight patients with advanced AMD and 161 age-matched normal controls were genotyped. Potential positive signals were further tested in another independent 445 advanced AMD patients and 190 controls. χ2 tests were performed to compare the allele frequencies between case and control groups.
None of the six SNPs of CFD was found to be significantly associated with advanced AMD in our study.
Our findings suggest that CFD may not play a major role in the genetic susceptibility to AMD because no association was found between the six SNPs analyzed in the CFD region and advanced AMD. |
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Six single nucleotide polymorphisms (SNPs), rs1683564, rs35186399, rs1683563, rs3826945, rs34337649, and rs1651896, across the region covering CFD, were chosen for this study. One hundred and seventy-eight patients with advanced AMD and 161 age-matched normal controls were genotyped. Potential positive signals were further tested in another independent 445 advanced AMD patients and 190 controls. χ2 tests were performed to compare the allele frequencies between case and control groups.
None of the six SNPs of CFD was found to be significantly associated with advanced AMD in our study.
Our findings suggest that CFD may not play a major role in the genetic susceptibility to AMD because no association was found between the six SNPs analyzed in the CFD region and advanced AMD.</description><identifier>ISSN: 1090-0535</identifier><identifier>EISSN: 1090-0535</identifier><identifier>PMID: 21139680</identifier><language>eng</language><publisher>United States: Molecular Vision</publisher><subject>Base Sequence ; Complement Factor D - genetics ; Complement Pathway, Alternative - genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Linkage Disequilibrium - genetics ; Macular Degeneration - genetics ; Macular Degeneration - pathology ; Middle Aged ; Molecular Sequence Data ; Polymorphism, Single Nucleotide - genetics</subject><ispartof>Molecular vision, 2010-11, Vol.16, p.2273-2278</ispartof><rights>Copyright © 2010 Molecular Vision. 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994334/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2994334/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21139680$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zeng, Jiexi</creatorcontrib><creatorcontrib>Chen, Yuhong</creatorcontrib><creatorcontrib>Tong, Zongzhong</creatorcontrib><creatorcontrib>Zhou, Xinrong</creatorcontrib><creatorcontrib>Zhao, Chao</creatorcontrib><creatorcontrib>Wang, Kevin</creatorcontrib><creatorcontrib>Hughes, Guy</creatorcontrib><creatorcontrib>Kasuga, Daniel</creatorcontrib><creatorcontrib>Bedell, Matthew</creatorcontrib><creatorcontrib>Lee, Clara</creatorcontrib><creatorcontrib>Ferreyra, Henry</creatorcontrib><creatorcontrib>Kozak, Igor</creatorcontrib><creatorcontrib>Haw, Weldon</creatorcontrib><creatorcontrib>Guan, Jean</creatorcontrib><creatorcontrib>Shaw, Robert</creatorcontrib><creatorcontrib>Stevenson, William</creatorcontrib><creatorcontrib>Weishaar, Paul D</creatorcontrib><creatorcontrib>Nelson, Mark H</creatorcontrib><creatorcontrib>Tang, Luosheng</creatorcontrib><creatorcontrib>Zhang, Kang</creatorcontrib><title>Lack of association of CFD polymorphisms with advanced age-related macular degeneration</title><title>Molecular vision</title><addtitle>Mol Vis</addtitle><description>Age-related macular degeneration (AMD) is the most common cause of irreversible central vision loss worldwide. Research has linked AMD susceptibility with dysregulation of the complement cascade. Typically, complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), and complement component 3 (C3) are associated with AMD. In this paper, we investigated the association between complement factor D (CFD), another factor of the complement system, and advanced AMD in a Caucasian population.
Six single nucleotide polymorphisms (SNPs), rs1683564, rs35186399, rs1683563, rs3826945, rs34337649, and rs1651896, across the region covering CFD, were chosen for this study. One hundred and seventy-eight patients with advanced AMD and 161 age-matched normal controls were genotyped. Potential positive signals were further tested in another independent 445 advanced AMD patients and 190 controls. χ2 tests were performed to compare the allele frequencies between case and control groups.
None of the six SNPs of CFD was found to be significantly associated with advanced AMD in our study.
Our findings suggest that CFD may not play a major role in the genetic susceptibility to AMD because no association was found between the six SNPs analyzed in the CFD region and advanced AMD.</description><subject>Base Sequence</subject><subject>Complement Factor D - genetics</subject><subject>Complement Pathway, Alternative - genetics</subject><subject>Genetic Association Studies</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Linkage Disequilibrium - genetics</subject><subject>Macular Degeneration - genetics</subject><subject>Macular Degeneration - pathology</subject><subject>Middle Aged</subject><subject>Molecular Sequence Data</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><issn>1090-0535</issn><issn>1090-0535</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE9Lw0AUxIMotla_guTmKbB_s9mLINGqUPCieAwvm5d2NcnG3aTSb2_VKvXkaWZ4w4_hHURTSjRJiOTycM9PopMQXghhVAp1HE0YpVynGZlGzwswr7GrYwjBGQuDdd1nzOfXce-aTet8v7KhDfG7HVYxVGvoDFYxLDHx2MCw9S2YsQEfV7jEDv0X4zQ6qqEJeLbTWfQ0v3nM75LFw-19frVIesbUkAgBDEqV1ZqmgDyjXFEUWV1yA1IakVYSZS2ooUpRSZTKTIqoSakVUllKPosuv7n9WLZYGewGD03Re9uC3xQObPH30tlVsXTrgmktOBdbwMUO4N3biGEoWhsMNg106MZQaMYZoVyQf5sZTZVmGVfb5vn-qN81P2_nHz02gIk</recordid><startdate>20101103</startdate><enddate>20101103</enddate><creator>Zeng, Jiexi</creator><creator>Chen, Yuhong</creator><creator>Tong, Zongzhong</creator><creator>Zhou, Xinrong</creator><creator>Zhao, Chao</creator><creator>Wang, Kevin</creator><creator>Hughes, Guy</creator><creator>Kasuga, Daniel</creator><creator>Bedell, Matthew</creator><creator>Lee, Clara</creator><creator>Ferreyra, Henry</creator><creator>Kozak, Igor</creator><creator>Haw, Weldon</creator><creator>Guan, Jean</creator><creator>Shaw, Robert</creator><creator>Stevenson, William</creator><creator>Weishaar, Paul D</creator><creator>Nelson, Mark H</creator><creator>Tang, Luosheng</creator><creator>Zhang, Kang</creator><general>Molecular Vision</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>7TK</scope><scope>5PM</scope></search><sort><creationdate>20101103</creationdate><title>Lack of association of CFD polymorphisms with advanced age-related macular degeneration</title><author>Zeng, Jiexi ; Chen, Yuhong ; Tong, Zongzhong ; Zhou, Xinrong ; Zhao, Chao ; Wang, Kevin ; Hughes, Guy ; Kasuga, Daniel ; Bedell, Matthew ; Lee, Clara ; Ferreyra, Henry ; Kozak, Igor ; Haw, Weldon ; Guan, Jean ; Shaw, Robert ; Stevenson, William ; Weishaar, Paul D ; Nelson, Mark H ; Tang, Luosheng ; Zhang, Kang</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p227t-44a2ab78f916ae381371e48fb3ca55c46d5e5f41c177150778c6ee90b97e15b53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Base Sequence</topic><topic>Complement Factor D - genetics</topic><topic>Complement Pathway, Alternative - genetics</topic><topic>Genetic Association Studies</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Linkage Disequilibrium - genetics</topic><topic>Macular Degeneration - genetics</topic><topic>Macular Degeneration - pathology</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zeng, Jiexi</creatorcontrib><creatorcontrib>Chen, Yuhong</creatorcontrib><creatorcontrib>Tong, Zongzhong</creatorcontrib><creatorcontrib>Zhou, Xinrong</creatorcontrib><creatorcontrib>Zhao, Chao</creatorcontrib><creatorcontrib>Wang, Kevin</creatorcontrib><creatorcontrib>Hughes, Guy</creatorcontrib><creatorcontrib>Kasuga, Daniel</creatorcontrib><creatorcontrib>Bedell, Matthew</creatorcontrib><creatorcontrib>Lee, Clara</creatorcontrib><creatorcontrib>Ferreyra, Henry</creatorcontrib><creatorcontrib>Kozak, Igor</creatorcontrib><creatorcontrib>Haw, Weldon</creatorcontrib><creatorcontrib>Guan, Jean</creatorcontrib><creatorcontrib>Shaw, Robert</creatorcontrib><creatorcontrib>Stevenson, William</creatorcontrib><creatorcontrib>Weishaar, Paul D</creatorcontrib><creatorcontrib>Nelson, Mark H</creatorcontrib><creatorcontrib>Tang, Luosheng</creatorcontrib><creatorcontrib>Zhang, Kang</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Molecular vision</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zeng, Jiexi</au><au>Chen, Yuhong</au><au>Tong, Zongzhong</au><au>Zhou, Xinrong</au><au>Zhao, Chao</au><au>Wang, Kevin</au><au>Hughes, Guy</au><au>Kasuga, Daniel</au><au>Bedell, Matthew</au><au>Lee, Clara</au><au>Ferreyra, Henry</au><au>Kozak, Igor</au><au>Haw, Weldon</au><au>Guan, Jean</au><au>Shaw, Robert</au><au>Stevenson, William</au><au>Weishaar, Paul D</au><au>Nelson, Mark H</au><au>Tang, Luosheng</au><au>Zhang, Kang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Lack of association of CFD polymorphisms with advanced age-related macular degeneration</atitle><jtitle>Molecular vision</jtitle><addtitle>Mol Vis</addtitle><date>2010-11-03</date><risdate>2010</risdate><volume>16</volume><spage>2273</spage><epage>2278</epage><pages>2273-2278</pages><issn>1090-0535</issn><eissn>1090-0535</eissn><abstract>Age-related macular degeneration (AMD) is the most common cause of irreversible central vision loss worldwide. Research has linked AMD susceptibility with dysregulation of the complement cascade. Typically, complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), and complement component 3 (C3) are associated with AMD. In this paper, we investigated the association between complement factor D (CFD), another factor of the complement system, and advanced AMD in a Caucasian population.
Six single nucleotide polymorphisms (SNPs), rs1683564, rs35186399, rs1683563, rs3826945, rs34337649, and rs1651896, across the region covering CFD, were chosen for this study. One hundred and seventy-eight patients with advanced AMD and 161 age-matched normal controls were genotyped. Potential positive signals were further tested in another independent 445 advanced AMD patients and 190 controls. χ2 tests were performed to compare the allele frequencies between case and control groups.
None of the six SNPs of CFD was found to be significantly associated with advanced AMD in our study.
Our findings suggest that CFD may not play a major role in the genetic susceptibility to AMD because no association was found between the six SNPs analyzed in the CFD region and advanced AMD.</abstract><cop>United States</cop><pub>Molecular Vision</pub><pmid>21139680</pmid><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Base Sequence Complement Factor D - genetics Complement Pathway, Alternative - genetics Genetic Association Studies Genetic Predisposition to Disease Humans Linkage Disequilibrium - genetics Macular Degeneration - genetics Macular Degeneration - pathology Middle Aged Molecular Sequence Data Polymorphism, Single Nucleotide - genetics |
| title | Lack of association of CFD polymorphisms with advanced age-related macular degeneration |
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