Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients
Because no frequency data are available for the main opiate-related polymorphisms in sickle-cell disease (SCD) populations, we decided to perform such a genotyping in a cohort of 139 individuals. For pharmacodynamics,the OPRM1 A118G and the COMT G322A single nucleotide polymorphisms (SNPs) were chos...
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| Veröffentlicht in: | American journal of hematology 2012-05, Vol.87 (5), p.534-536 |
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| creator | Joly, Philippe Gagnieu, Marie-Claude Bardel, Claire Francina, Alain Pondarre, Corinne Martin, Cyril |
| description | Because no frequency data are available for the main opiate-related polymorphisms in sickle-cell disease (SCD) populations, we decided to perform such a genotyping in a cohort of 139 individuals. For pharmacodynamics,the OPRM1 A118G and the COMT G322A single nucleotide polymorphisms (SNPs) were chosen for their negative effects on the m receptors [1,2]. For pharmacokinetics [3], important SNPs for the CYP2D6 gene (codeine to morphine conversion) and for three genes involved in morphine elimination (namely CYP3A, UGT2B7, and ABCB1) were genotyped. The allelic frequencies of the OPRM1 and COMT SNPs appeared very low (0.01 to 0.05-no double mutant homozygous),as well as the proportion of CYP2D6 poor metabolizers (1.4%)and CYP3A wild-type (17.9%) which are associated with a low morphine exposure. On the contrary, up to 35% of SCD patients may have unfavorable ABCB1 and UGT2B7 genotypes for a good morphine exposure.Obviously, pharmacokinetic studies with precise phenotype/genotype correlations are required to draw definitive conclusions. |
| doi_str_mv | 10.1002/ajh.23137 |
| format | Article |
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For pharmacodynamics,the OPRM1 A118G and the COMT G322A single nucleotide polymorphisms (SNPs) were chosen for their negative effects on the m receptors [1,2]. For pharmacokinetics [3], important SNPs for the CYP2D6 gene (codeine to morphine conversion) and for three genes involved in morphine elimination (namely CYP3A, UGT2B7, and ABCB1) were genotyped. The allelic frequencies of the OPRM1 and COMT SNPs appeared very low (0.01 to 0.05-no double mutant homozygous),as well as the proportion of CYP2D6 poor metabolizers (1.4%)and CYP3A wild-type (17.9%) which are associated with a low morphine exposure. On the contrary, up to 35% of SCD patients may have unfavorable ABCB1 and UGT2B7 genotypes for a good morphine exposure.Obviously, pharmacokinetic studies with precise phenotype/genotype correlations are required to draw definitive conclusions.</description><identifier>ISSN: 0361-8609</identifier><identifier>EISSN: 1096-8652</identifier><identifier>DOI: 10.1002/ajh.23137</identifier><identifier>PMID: 22430884</identifier><identifier>CODEN: AJHEDD</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>African Continental Ancestry Group - genetics ; Anemia, Sickle Cell - epidemiology ; Anemia, Sickle Cell - genetics ; Anemias. Hemoglobinopathies ; ATP Binding Cassette Transporter, Sub-Family B ; ATP-Binding Cassette, Sub-Family B, Member 1 - genetics ; Biological and medical sciences ; Biological Availability ; Biotransformation - genetics ; Catechol O-Methyltransferase - genetics ; Codeine - pharmacokinetics ; Cohort Studies ; Cytochrome P-450 CYP2D6 - genetics ; Cytochrome P-450 CYP3A - genetics ; Diseases of red blood cells ; Drug Resistance - genetics ; European Continental Ancestry Group - genetics ; Genetic Testing ; Genotype ; Glucuronosyltransferase - genetics ; Hematologic and hematopoietic diseases ; Hematology ; Humans ; Life Sciences ; Medical sciences ; Morphine - pharmacokinetics ; Narcotics - pharmacokinetics ; Polymorphism, Single Nucleotide ; Receptors, Opioid, mu - genetics</subject><ispartof>American journal of hematology, 2012-05, Vol.87 (5), p.534-536</ispartof><rights>Copyright © 2012 Wiley Periodicals, Inc.</rights><rights>2015 INIST-CNRS</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4907-fffc1c8ae120f975818e2c30d59dddb46a87bedf9d4f4fab1632d5556f10e89e3</citedby><cites>FETCH-LOGICAL-c4907-fffc1c8ae120f975818e2c30d59dddb46a87bedf9d4f4fab1632d5556f10e89e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajh.23137$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajh.23137$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25835422$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22430884$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://univ-lyon1.hal.science/hal-02296824$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Joly, Philippe</creatorcontrib><creatorcontrib>Gagnieu, Marie-Claude</creatorcontrib><creatorcontrib>Bardel, Claire</creatorcontrib><creatorcontrib>Francina, Alain</creatorcontrib><creatorcontrib>Pondarre, Corinne</creatorcontrib><creatorcontrib>Martin, Cyril</creatorcontrib><title>Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients</title><title>American journal of hematology</title><addtitle>Am. J. Hematol</addtitle><description>Because no frequency data are available for the main opiate-related polymorphisms in sickle-cell disease (SCD) populations, we decided to perform such a genotyping in a cohort of 139 individuals. For pharmacodynamics,the OPRM1 A118G and the COMT G322A single nucleotide polymorphisms (SNPs) were chosen for their negative effects on the m receptors [1,2]. For pharmacokinetics [3], important SNPs for the CYP2D6 gene (codeine to morphine conversion) and for three genes involved in morphine elimination (namely CYP3A, UGT2B7, and ABCB1) were genotyped. The allelic frequencies of the OPRM1 and COMT SNPs appeared very low (0.01 to 0.05-no double mutant homozygous),as well as the proportion of CYP2D6 poor metabolizers (1.4%)and CYP3A wild-type (17.9%) which are associated with a low morphine exposure. On the contrary, up to 35% of SCD patients may have unfavorable ABCB1 and UGT2B7 genotypes for a good morphine exposure.Obviously, pharmacokinetic studies with precise phenotype/genotype correlations are required to draw definitive conclusions.</description><subject>African Continental Ancestry Group - genetics</subject><subject>Anemia, Sickle Cell - epidemiology</subject><subject>Anemia, Sickle Cell - genetics</subject><subject>Anemias. Hemoglobinopathies</subject><subject>ATP Binding Cassette Transporter, Sub-Family B</subject><subject>ATP-Binding Cassette, Sub-Family B, Member 1 - genetics</subject><subject>Biological and medical sciences</subject><subject>Biological Availability</subject><subject>Biotransformation - genetics</subject><subject>Catechol O-Methyltransferase - genetics</subject><subject>Codeine - pharmacokinetics</subject><subject>Cohort Studies</subject><subject>Cytochrome P-450 CYP2D6 - genetics</subject><subject>Cytochrome P-450 CYP3A - genetics</subject><subject>Diseases of red blood cells</subject><subject>Drug Resistance - genetics</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Genetic Testing</subject><subject>Genotype</subject><subject>Glucuronosyltransferase - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hematology</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Medical sciences</subject><subject>Morphine - pharmacokinetics</subject><subject>Narcotics - pharmacokinetics</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Receptors, Opioid, mu - genetics</subject><issn>0361-8609</issn><issn>1096-8652</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kl9v0zAUxSMEYmXwwBdAlhASPGTznzixH6sJWlAFQhvi0XLta-IuiYOdAv32uGvXSUg8Xcv-nXuufVwULwm-IBjTS71pLygjrHlUzAiWdSlqTh8XM8xqktdYnhXPUtpgTEgl8NPijNKKYSGqWdEtYAjTbvQGJRMBBj_8QMGhqQXUaz-gMHo9QRmhy8WiMXS7PsSx9alPKJ9rZEIb4rQXESZR8ua2A2Sg65D1CXQCNOrJwzCl58UTp7sEL471vPj24f3N1bJcfVl8vJqvSlNJ3JTOOUOM0EAodrLhggighmHLpbV2XdVaNGuwTtrKVU6vSc2o5ZzXjmAQEth58e7Qt9WdGqPvddypoL1azldqv4cplbWg1S-S2bcHdozh5xbSpHqf9tPrAcI2qf0DcyxqKjP6-h90E7ZxyDdRhJO64oIy_GBuYkgpgjtNQPBdN5XjUndxZfbVseN23YM9kff5ZODNEdDJ6M5FPRifHjguGK8ozdzlgfvtO9j931HNPy3vrcuDwqcJ_pwUOt6qumENV98_LxS-vv7K8mdSN-wvNaC5hw</recordid><startdate>201205</startdate><enddate>201205</enddate><creator>Joly, Philippe</creator><creator>Gagnieu, Marie-Claude</creator><creator>Bardel, Claire</creator><creator>Francina, Alain</creator><creator>Pondarre, Corinne</creator><creator>Martin, Cyril</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</general><general>Wiley Subscription Services, Inc</general><general>Wiley</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>K9.</scope><scope>7X8</scope><scope>1XC</scope></search><sort><creationdate>201205</creationdate><title>Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients</title><author>Joly, Philippe ; Gagnieu, Marie-Claude ; Bardel, Claire ; Francina, Alain ; Pondarre, Corinne ; Martin, Cyril</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4907-fffc1c8ae120f975818e2c30d59dddb46a87bedf9d4f4fab1632d5556f10e89e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>African Continental Ancestry Group - genetics</topic><topic>Anemia, Sickle Cell - epidemiology</topic><topic>Anemia, Sickle Cell - genetics</topic><topic>Anemias. Hemoglobinopathies</topic><topic>ATP Binding Cassette Transporter, Sub-Family B</topic><topic>ATP-Binding Cassette, Sub-Family B, Member 1 - genetics</topic><topic>Biological and medical sciences</topic><topic>Biological Availability</topic><topic>Biotransformation - genetics</topic><topic>Catechol O-Methyltransferase - genetics</topic><topic>Codeine - pharmacokinetics</topic><topic>Cohort Studies</topic><topic>Cytochrome P-450 CYP2D6 - genetics</topic><topic>Cytochrome P-450 CYP3A - genetics</topic><topic>Diseases of red blood cells</topic><topic>Drug Resistance - genetics</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Genetic Testing</topic><topic>Genotype</topic><topic>Glucuronosyltransferase - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Hematology</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Medical sciences</topic><topic>Morphine - pharmacokinetics</topic><topic>Narcotics - pharmacokinetics</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Receptors, Opioid, mu - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Joly, Philippe</creatorcontrib><creatorcontrib>Gagnieu, Marie-Claude</creatorcontrib><creatorcontrib>Bardel, Claire</creatorcontrib><creatorcontrib>Francina, Alain</creatorcontrib><creatorcontrib>Pondarre, Corinne</creatorcontrib><creatorcontrib>Martin, Cyril</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>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><jtitle>American journal of hematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Joly, Philippe</au><au>Gagnieu, Marie-Claude</au><au>Bardel, Claire</au><au>Francina, Alain</au><au>Pondarre, Corinne</au><au>Martin, Cyril</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients</atitle><jtitle>American journal of hematology</jtitle><addtitle>Am. J. Hematol</addtitle><date>2012-05</date><risdate>2012</risdate><volume>87</volume><issue>5</issue><spage>534</spage><epage>536</epage><pages>534-536</pages><issn>0361-8609</issn><eissn>1096-8652</eissn><coden>AJHEDD</coden><abstract>Because no frequency data are available for the main opiate-related polymorphisms in sickle-cell disease (SCD) populations, we decided to perform such a genotyping in a cohort of 139 individuals. For pharmacodynamics,the OPRM1 A118G and the COMT G322A single nucleotide polymorphisms (SNPs) were chosen for their negative effects on the m receptors [1,2]. For pharmacokinetics [3], important SNPs for the CYP2D6 gene (codeine to morphine conversion) and for three genes involved in morphine elimination (namely CYP3A, UGT2B7, and ABCB1) were genotyped. The allelic frequencies of the OPRM1 and COMT SNPs appeared very low (0.01 to 0.05-no double mutant homozygous),as well as the proportion of CYP2D6 poor metabolizers (1.4%)and CYP3A wild-type (17.9%) which are associated with a low morphine exposure. On the contrary, up to 35% of SCD patients may have unfavorable ABCB1 and UGT2B7 genotypes for a good morphine exposure.Obviously, pharmacokinetic studies with precise phenotype/genotype correlations are required to draw definitive conclusions.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>22430884</pmid><doi>10.1002/ajh.23137</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | African Continental Ancestry Group - genetics Anemia, Sickle Cell - epidemiology Anemia, Sickle Cell - genetics Anemias. Hemoglobinopathies ATP Binding Cassette Transporter, Sub-Family B ATP-Binding Cassette, Sub-Family B, Member 1 - genetics Biological and medical sciences Biological Availability Biotransformation - genetics Catechol O-Methyltransferase - genetics Codeine - pharmacokinetics Cohort Studies Cytochrome P-450 CYP2D6 - genetics Cytochrome P-450 CYP3A - genetics Diseases of red blood cells Drug Resistance - genetics European Continental Ancestry Group - genetics Genetic Testing Genotype Glucuronosyltransferase - genetics Hematologic and hematopoietic diseases Hematology Humans Life Sciences Medical sciences Morphine - pharmacokinetics Narcotics - pharmacokinetics Polymorphism, Single Nucleotide Receptors, Opioid, mu - genetics |
| title | Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients |
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