Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis
Using PCR and restriction digest analysis, the frequencies of the variant cytochrome P450 debrisoquine hydroxylase CYP2D6 alleles CYP2D6(A) and CYF'2D6(B) were investigated in 50 patients with amyotrophic lateral sclerosis (ALS) and 13 patients with ALS and frontotemporal dementia (FTD) and com...
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| Veröffentlicht in: | Neuroscience letters 1996-04, Vol.208 (1), p.65-68 |
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| container_end_page | 68 |
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| container_title | Neuroscience letters |
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| creator | Siddons, M.A. Pickering-Brown, S.M. Mann, D.M.A. Owen, F. Cooper, P.N. |
| description | Using PCR and restriction digest analysis, the frequencies of the variant cytochrome P450 debrisoquine hydroxylase CYP2D6 alleles CYP2D6(A) and CYF'2D6(B) were investigated in 50 patients with amyotrophic lateral sclerosis (ALS) and 13 patients with ALS and frontotemporal dementia (FTD) and compared to those frequencies in patients with FTD alone and Alzheimer's disease (AD). The CYP2D6(T) allelic frequency was also assessed in ALS and ALS + FTD. Although the frequency of a poor metabolizer genotype was not increased in any disease group, there was a significant increase in the frequency of the CYP2D6(B) allele in the ALS patient group. This suggests that possession of a CYP2D6(B) allele may be a risk factor for the development of ALS, possibly conferring a ‘gain of function’ imposed by the mutation or reflecting linkage disequilibrium to a nearby susceptibility gene. |
| doi_str_mv | 10.1016/0304-3940(96)12549-0 |
| format | Article |
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The CYP2D6(T) allelic frequency was also assessed in ALS and ALS + FTD. Although the frequency of a poor metabolizer genotype was not increased in any disease group, there was a significant increase in the frequency of the CYP2D6(B) allele in the ALS patient group. 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Prion diseases ; Dementia ; Gene Frequency ; Genotype ; Humans ; Medical sciences ; Mixed Function Oxygenases - genetics ; Motor neurone disease ; Neurology ; Polymerase Chain Reaction ; Polymorphism, Genetic - genetics ; Polymorphisms</subject><ispartof>Neuroscience letters, 1996-04, Vol.208 (1), p.65-68</ispartof><rights>1996</rights><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c417t-8a0294f6fccf425b9b909adf904fc8db6289796838bdbd5720a7206da251964a3</citedby><cites>FETCH-LOGICAL-c417t-8a0294f6fccf425b9b909adf904fc8db6289796838bdbd5720a7206da251964a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0304394096125490$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3071423$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8731176$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Siddons, M.A.</creatorcontrib><creatorcontrib>Pickering-Brown, S.M.</creatorcontrib><creatorcontrib>Mann, D.M.A.</creatorcontrib><creatorcontrib>Owen, F.</creatorcontrib><creatorcontrib>Cooper, P.N.</creatorcontrib><title>Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis</title><title>Neuroscience letters</title><addtitle>Neurosci Lett</addtitle><description>Using PCR and restriction digest analysis, the frequencies of the variant cytochrome P450 debrisoquine hydroxylase CYP2D6 alleles CYP2D6(A) and CYF'2D6(B) were investigated in 50 patients with amyotrophic lateral sclerosis (ALS) and 13 patients with ALS and frontotemporal dementia (FTD) and compared to those frequencies in patients with FTD alone and Alzheimer's disease (AD). The CYP2D6(T) allelic frequency was also assessed in ALS and ALS + FTD. Although the frequency of a poor metabolizer genotype was not increased in any disease group, there was a significant increase in the frequency of the CYP2D6(B) allele in the ALS patient group. This suggests that possession of a CYP2D6(B) allele may be a risk factor for the development of ALS, possibly conferring a ‘gain of function’ imposed by the mutation or reflecting linkage disequilibrium to a nearby susceptibility gene.</description><subject>Alleles</subject><subject>Amyotrophic lateral sclerosis</subject><subject>Amyotrophic Lateral Sclerosis - enzymology</subject><subject>Amyotrophic Lateral Sclerosis - genetics</subject><subject>Biological and medical sciences</subject><subject>Cytochrome P-450 CYP2D6</subject><subject>Cytochrome P-450 Enzyme System - genetics</subject><subject>Cytochrome P450</subject><subject>Debrisoquine hydroxylase</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dementia</subject><subject>Gene Frequency</subject><subject>Genotype</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Mixed Function Oxygenases - genetics</subject><subject>Motor neurone disease</subject><subject>Neurology</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Polymorphisms</subject><issn>0304-3940</issn><issn>1872-7972</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUuLFDEQgIO4rOPoP1Dog4geWpN0Oo_LgqyPXVjwoueQTipOJN3pTXrU_vdmnGGO7iEUVH0pqr5C6AXB7wgm_D3uMGs7xfAbxd8S2jPV4kdoQ6SgrVCCPkabM_IEPS3lJ8a4Jz27RJdSdIQIvkHwEYYcSrrfhwma3epy-rNGU6D5ATUxp7iOKc-7UMbGZ7jfw2QDlCZMzWyWANNSmt9h2TVmXNOSUyVtE80C2cSm2Ag5lVCeoQtvYoHnp7hF3z9_-nZ90959_XJ7_eGutYyIpZUGU8U899Z6RvtBDQor47zCzFvpBk6lEorLTg5ucL2g2NTHnaE9UZyZboteH_vOuW4EZdFjKBZiNBOkfdFCEi45Fw-CpJcMY9ZXkB1BWxcpGbyecxhNXjXB-nAGfXCsD4614vrfGWpqi16e-u-HEdz508l7rb861U2xJvpsqtZyxjosCKNdxa6OGFRpvwJkXar9yYILGeyiXQr_n-Mvcyiljw</recordid><startdate>19960412</startdate><enddate>19960412</enddate><creator>Siddons, M.A.</creator><creator>Pickering-Brown, S.M.</creator><creator>Mann, D.M.A.</creator><creator>Owen, F.</creator><creator>Cooper, P.N.</creator><general>Elsevier Ireland Ltd</general><general>Elsevier</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>7TK</scope><scope>7X8</scope></search><sort><creationdate>19960412</creationdate><title>Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis</title><author>Siddons, M.A. ; Pickering-Brown, S.M. ; Mann, D.M.A. ; Owen, F. ; Cooper, P.N.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c417t-8a0294f6fccf425b9b909adf904fc8db6289796838bdbd5720a7206da251964a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Alleles</topic><topic>Amyotrophic lateral sclerosis</topic><topic>Amyotrophic Lateral Sclerosis - enzymology</topic><topic>Amyotrophic Lateral Sclerosis - genetics</topic><topic>Biological and medical sciences</topic><topic>Cytochrome P-450 CYP2D6</topic><topic>Cytochrome P-450 Enzyme System - genetics</topic><topic>Cytochrome P450</topic><topic>Debrisoquine hydroxylase</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Dementia</topic><topic>Gene Frequency</topic><topic>Genotype</topic><topic>Humans</topic><topic>Medical sciences</topic><topic>Mixed Function Oxygenases - genetics</topic><topic>Motor neurone disease</topic><topic>Neurology</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Polymorphisms</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Siddons, M.A.</creatorcontrib><creatorcontrib>Pickering-Brown, S.M.</creatorcontrib><creatorcontrib>Mann, D.M.A.</creatorcontrib><creatorcontrib>Owen, F.</creatorcontrib><creatorcontrib>Cooper, P.N.</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>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Neuroscience letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Siddons, M.A.</au><au>Pickering-Brown, S.M.</au><au>Mann, D.M.A.</au><au>Owen, F.</au><au>Cooper, P.N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis</atitle><jtitle>Neuroscience letters</jtitle><addtitle>Neurosci Lett</addtitle><date>1996-04-12</date><risdate>1996</risdate><volume>208</volume><issue>1</issue><spage>65</spage><epage>68</epage><pages>65-68</pages><issn>0304-3940</issn><eissn>1872-7972</eissn><coden>NELED5</coden><abstract>Using PCR and restriction digest analysis, the frequencies of the variant cytochrome P450 debrisoquine hydroxylase CYP2D6 alleles CYP2D6(A) and CYF'2D6(B) were investigated in 50 patients with amyotrophic lateral sclerosis (ALS) and 13 patients with ALS and frontotemporal dementia (FTD) and compared to those frequencies in patients with FTD alone and Alzheimer's disease (AD). The CYP2D6(T) allelic frequency was also assessed in ALS and ALS + FTD. Although the frequency of a poor metabolizer genotype was not increased in any disease group, there was a significant increase in the frequency of the CYP2D6(B) allele in the ALS patient group. This suggests that possession of a CYP2D6(B) allele may be a risk factor for the development of ALS, possibly conferring a ‘gain of function’ imposed by the mutation or reflecting linkage disequilibrium to a nearby susceptibility gene.</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>8731176</pmid><doi>10.1016/0304-3940(96)12549-0</doi><tpages>4</tpages></addata></record> |
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| ispartof | Neuroscience letters, 1996-04, Vol.208 (1), p.65-68 |
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| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Alleles Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - enzymology Amyotrophic Lateral Sclerosis - genetics Biological and medical sciences Cytochrome P-450 CYP2D6 Cytochrome P-450 Enzyme System - genetics Cytochrome P450 Debrisoquine hydroxylase Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dementia Gene Frequency Genotype Humans Medical sciences Mixed Function Oxygenases - genetics Motor neurone disease Neurology Polymerase Chain Reaction Polymorphism, Genetic - genetics Polymorphisms |
| title | Debrisoquine hydroxylase gene polymorphism frequencies in patients with amyotrophic lateral sclerosis |
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