Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls
A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a serie...
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| Veröffentlicht in: | Human molecular genetics 2008-07, Vol.17 (13), p.1988-1993 |
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| container_end_page | 1993 |
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| container_issue | 13 |
| container_start_page | 1988 |
| container_title | Human molecular genetics |
| container_volume | 17 |
| creator | Simón-Sánchez, Javier Singleton, Andrew B. |
| description | A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a series of 644 North American PD cases with both young- and late-onset disease and in 828 North American neurologically normal controls. Our results show that neither of the variants previously related to PD were associated with PD in our cohort and that the risk variants were present in neurologically normal controls. |
| doi_str_mv | 10.1093/hmg/ddn096 |
| format | Article |
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Biological and molecular evolution</subject><subject>High-Temperature Requirement A Serine Peptidase 2</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Parkinson Disease - genetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Sequence Analysis, DNA</subject><subject>Serine Endopeptidases - genetics</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0U1vFCEYB_CJ0di1evEDGGKiB5NxeRsYLia1UbfapolWY7wQYJhZ2hmYwkx1v72Y3WzVg54g8MvzwPMviscIvkRQkOV66JZN46Fgd4oFogyWGNbkbrHIJ7RkArKD4kFKlxAiRgm_XxygmuRdzRfF9Sd7PVtvnO-A8qrfJJdAaMH52clydfHxCIO0Dt8TGKO9cWFO_QZEO4Y42QaMalqHznpnwDBPanLBJ-A88HaOoQ-dM6rP3oc4qB6Y4Kd8nB4W91rVJ_totx4Wn9--uThelafn706Oj05LU4l6KpXGWijDKDWKCKUbzK3mmlICW4uYwlRrzRsmDCS81i1rjMJNxTnHBiNmyGHxalt3nPVgG2Nze9XLMbpBxY0Mysk_b7xbyy7cSFxxWlc0F3i-KxBDnlGa5OCSsX2vvM2TkExgBCmv_gsx5DWuOczw6V_wMswxTz0bhDCnGKOMXmyRiSGlaNv9kxGUv_KWOW-5zTvjJ79_8pbuAs7g2Q6olONoo8pZp73DkBIiCLl1YR7_3bDcOpcm-2MvVbySjBNeydXXb_L1Fyw-nK3ey5r8BBSK0xI</recordid><startdate>20080701</startdate><enddate>20080701</enddate><creator>Simón-Sánchez, Javier</creator><creator>Singleton, Andrew B.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20080701</creationdate><title>Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls</title><author>Simón-Sánchez, Javier ; Singleton, Andrew B.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c598t-ab2b9ac644ca39abd27eb7b4430fe16a24bbb7d69c0378bf6dca2d57772c216c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Cohort Studies</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>High-Temperature Requirement A Serine Peptidase 2</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Parkinson Disease - genetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Sequence Analysis, DNA</topic><topic>Serine Endopeptidases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Simón-Sánchez, Javier</creatorcontrib><creatorcontrib>Singleton, Andrew B.</creatorcontrib><collection>Istex</collection><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>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Simón-Sánchez, Javier</au><au>Singleton, Andrew B.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2008-07-01</date><risdate>2008</risdate><volume>17</volume><issue>13</issue><spage>1988</spage><epage>1993</epage><pages>1988-1993</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><coden>HNGEE5</coden><abstract>A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a series of 644 North American PD cases with both young- and late-onset disease and in 828 North American neurologically normal controls. Our results show that neither of the variants previously related to PD were associated with PD in our cohort and that the risk variants were present in neurologically normal controls.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>18364387</pmid><doi>10.1093/hmg/ddn096</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
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| ispartof | Human molecular genetics, 2008-07, Vol.17 (13), p.1988-1993 |
| issn | 0964-6906 1460-2083 |
| language | eng |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection |
| subjects | Adolescent Adult Age of Onset Aged Aged, 80 and over Biological and medical sciences Cohort Studies Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution High-Temperature Requirement A Serine Peptidase 2 Humans Male Middle Aged Mitochondrial Proteins - genetics Molecular and cellular biology Mutation Parkinson Disease - genetics Polymorphism, Single Nucleotide Sequence Analysis, DNA Serine Endopeptidases - genetics |
| title | Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls |
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