Sequence diversity and haplotype structure at the human CYP3A cluster
The four members of the human CYP3A subfamily play important roles in the clearance of xenobiotics, hormones, and environmental compounds. Many SNPs at the CYP3A locus have been characterized, with several showing large allele frequency differences across populations. In addition to the effects of C...
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| Veröffentlicht in: | The pharmacogenomics journal 2006-03, Vol.6 (2), p.105-114 |
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| creator | Thompson, E E Kuttab-Boulos, H Yang, L Roe, B A Di Rienzo, A |
| description | The four members of the human
CYP3A
subfamily play important roles in the clearance of xenobiotics, hormones, and environmental compounds. Many SNPs at the
CYP3A
locus have been characterized, with several showing large allele frequency differences across populations. In addition to the effects of
CYP3A
SNPs on drug metabolism, recent studies have highlighted the potential for
CYP3A
variation in susceptibility to several common phenotypes, including hypertension and cancer. We previously showed that the
CYP3A4
and
CYP3A5
genes have a strong haplotype structure at varying frequencies across ethnic groups. Here, we extend our re-sequencing survey to the remaining
CYP3A
genes in the same cluster,
CYP3A7
and
CYP3A43
. Our study identified a large number of SNPs in coding and conserved noncoding sequences, several of which are common. The combined data set allows us to investigate patterns of sequence variation and linkage disequilibrium at the entire
CYP3A
locus for use in future association studies. |
| doi_str_mv | 10.1038/sj.tpj.6500347 |
| format | Article |
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CYP3A
subfamily play important roles in the clearance of xenobiotics, hormones, and environmental compounds. Many SNPs at the
CYP3A
locus have been characterized, with several showing large allele frequency differences across populations. In addition to the effects of
CYP3A
SNPs on drug metabolism, recent studies have highlighted the potential for
CYP3A
variation in susceptibility to several common phenotypes, including hypertension and cancer. We previously showed that the
CYP3A4
and
CYP3A5
genes have a strong haplotype structure at varying frequencies across ethnic groups. Here, we extend our re-sequencing survey to the remaining
CYP3A
genes in the same cluster,
CYP3A7
and
CYP3A43
. Our study identified a large number of SNPs in coding and conserved noncoding sequences, several of which are common. The combined data set allows us to investigate patterns of sequence variation and linkage disequilibrium at the entire
CYP3A
locus for use in future association studies.</description><identifier>ISSN: 1470-269X</identifier><identifier>EISSN: 1473-1150</identifier><identifier>DOI: 10.1038/sj.tpj.6500347</identifier><identifier>PMID: 16314882</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>African Americans - genetics ; Animals ; Base Sequence ; Biomedical and Life Sciences ; Biomedicine ; CYP3A7 protein ; Cytochrome P-450 CYP3A ; Cytochrome P-450 Enzyme System - genetics ; Cytochrome P450 ; Drug metabolism ; European Continental Ancestry Group - genetics ; Gene Expression ; Gene Frequency ; Haplotypes ; Human Genetics ; Humans ; Linkage Disequilibrium ; Minority & ethnic groups ; Molecular Sequence Data ; Multigene Family ; Oncology ; original-article ; Pharmacotherapy ; Phenotypes ; Polymorphism, Single Nucleotide ; Population genetics ; Psychopharmacology ; Sequence Analysis, DNA ; Single-nucleotide polymorphism ; Xenobiotics</subject><ispartof>The pharmacogenomics journal, 2006-03, Vol.6 (2), p.105-114</ispartof><rights>Springer Nature Limited 2006</rights><rights>COPYRIGHT 2006 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Mar 2006</rights><rights>Nature Publishing Group 2006.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c480t-61f9898f913b5b8176f1adea608ede6399059a3847f0bf873decaaa0b096b0c13</citedby><cites>FETCH-LOGICAL-c480t-61f9898f913b5b8176f1adea608ede6399059a3847f0bf873decaaa0b096b0c13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16314882$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Thompson, E E</creatorcontrib><creatorcontrib>Kuttab-Boulos, H</creatorcontrib><creatorcontrib>Yang, L</creatorcontrib><creatorcontrib>Roe, B A</creatorcontrib><creatorcontrib>Di Rienzo, A</creatorcontrib><title>Sequence diversity and haplotype structure at the human CYP3A cluster</title><title>The pharmacogenomics journal</title><addtitle>Pharmacogenomics J</addtitle><addtitle>Pharmacogenomics J</addtitle><description>The four members of the human
CYP3A
subfamily play important roles in the clearance of xenobiotics, hormones, and environmental compounds. Many SNPs at the
CYP3A
locus have been characterized, with several showing large allele frequency differences across populations. In addition to the effects of
CYP3A
SNPs on drug metabolism, recent studies have highlighted the potential for
CYP3A
variation in susceptibility to several common phenotypes, including hypertension and cancer. We previously showed that the
CYP3A4
and
CYP3A5
genes have a strong haplotype structure at varying frequencies across ethnic groups. Here, we extend our re-sequencing survey to the remaining
CYP3A
genes in the same cluster,
CYP3A7
and
CYP3A43
. Our study identified a large number of SNPs in coding and conserved noncoding sequences, several of which are common. The combined data set allows us to investigate patterns of sequence variation and linkage disequilibrium at the entire
CYP3A
locus for use in future association studies.</description><subject>African Americans - genetics</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>CYP3A7 protein</subject><subject>Cytochrome P-450 CYP3A</subject><subject>Cytochrome P-450 Enzyme System - genetics</subject><subject>Cytochrome P450</subject><subject>Drug metabolism</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Gene Expression</subject><subject>Gene Frequency</subject><subject>Haplotypes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Linkage Disequilibrium</subject><subject>Minority & ethnic groups</subject><subject>Molecular Sequence Data</subject><subject>Multigene Family</subject><subject>Oncology</subject><subject>original-article</subject><subject>Pharmacotherapy</subject><subject>Phenotypes</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population genetics</subject><subject>Psychopharmacology</subject><subject>Sequence Analysis, DNA</subject><subject>Single-nucleotide polymorphism</subject><subject>Xenobiotics</subject><issn>1470-269X</issn><issn>1473-1150</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkd2L1DAUxYso7rr66ptSFHzr7L1Nm4_HYVg_YMEFFfQppOntTku_TFJh_vvN7Iw7ICySh4Tc3zmc5CTJa4QVApOXvluFuVvxEoAV4klyjoVgGWIJT-_PkOVc_TxLXnjfASBHIZ8nZ8gZFlLm58nVN_q90Ggprds_5HwbdqkZ63Rr5n4Ku5lSH9xiw-IoNSENW0q3y2DGdPPrhq1T2y8-kHuZPGtM7-nVcb9Ifny8-r75nF1__fRls77ObCEhZBwbJZVsFLKqrCQK3qCpyXCQVBNnSkGpDJOFaKBqpGA1WWMMVKB4BRbZRfLh4Du7Kcb2QQ-tt9T3ZqRp8ZoLUcavKP8L5lCUSuZ78P0_YDctboyP0DkvkCtRgIzUu0epXIIsUIgIrQ7QrelJt2MzBWdsXDUNrZ1Gatp4v0apci5QlieBdZP3jho9u3YwbqcR9L5d7Tsd29XHdqPg7THGUg1Un_BjnRG4PAA-jsZbcqecj1q-OShGs-_4wfLv_A60LbhT</recordid><startdate>20060301</startdate><enddate>20060301</enddate><creator>Thompson, E E</creator><creator>Kuttab-Boulos, H</creator><creator>Yang, L</creator><creator>Roe, B A</creator><creator>Di Rienzo, A</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><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>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20060301</creationdate><title>Sequence diversity and haplotype structure at the human CYP3A cluster</title><author>Thompson, E E ; Kuttab-Boulos, H ; Yang, L ; Roe, B A ; Di Rienzo, A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c480t-61f9898f913b5b8176f1adea608ede6399059a3847f0bf873decaaa0b096b0c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>African Americans - genetics</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>CYP3A7 protein</topic><topic>Cytochrome P-450 CYP3A</topic><topic>Cytochrome P-450 Enzyme System - genetics</topic><topic>Cytochrome P450</topic><topic>Drug metabolism</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Gene Expression</topic><topic>Gene Frequency</topic><topic>Haplotypes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Linkage Disequilibrium</topic><topic>Minority & ethnic groups</topic><topic>Molecular Sequence Data</topic><topic>Multigene Family</topic><topic>Oncology</topic><topic>original-article</topic><topic>Pharmacotherapy</topic><topic>Phenotypes</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population genetics</topic><topic>Psychopharmacology</topic><topic>Sequence Analysis, DNA</topic><topic>Single-nucleotide polymorphism</topic><topic>Xenobiotics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Thompson, E E</creatorcontrib><creatorcontrib>Kuttab-Boulos, H</creatorcontrib><creatorcontrib>Yang, L</creatorcontrib><creatorcontrib>Roe, B A</creatorcontrib><creatorcontrib>Di Rienzo, A</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>The pharmacogenomics journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Thompson, E E</au><au>Kuttab-Boulos, H</au><au>Yang, L</au><au>Roe, B A</au><au>Di Rienzo, A</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sequence diversity and haplotype structure at the human CYP3A cluster</atitle><jtitle>The pharmacogenomics journal</jtitle><stitle>Pharmacogenomics J</stitle><addtitle>Pharmacogenomics J</addtitle><date>2006-03-01</date><risdate>2006</risdate><volume>6</volume><issue>2</issue><spage>105</spage><epage>114</epage><pages>105-114</pages><issn>1470-269X</issn><eissn>1473-1150</eissn><abstract>The four members of the human
CYP3A
subfamily play important roles in the clearance of xenobiotics, hormones, and environmental compounds. Many SNPs at the
CYP3A
locus have been characterized, with several showing large allele frequency differences across populations. In addition to the effects of
CYP3A
SNPs on drug metabolism, recent studies have highlighted the potential for
CYP3A
variation in susceptibility to several common phenotypes, including hypertension and cancer. We previously showed that the
CYP3A4
and
CYP3A5
genes have a strong haplotype structure at varying frequencies across ethnic groups. Here, we extend our re-sequencing survey to the remaining
CYP3A
genes in the same cluster,
CYP3A7
and
CYP3A43
. Our study identified a large number of SNPs in coding and conserved noncoding sequences, several of which are common. The combined data set allows us to investigate patterns of sequence variation and linkage disequilibrium at the entire
CYP3A
locus for use in future association studies.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>16314882</pmid><doi>10.1038/sj.tpj.6500347</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1470-269X |
| ispartof | The pharmacogenomics journal, 2006-03, Vol.6 (2), p.105-114 |
| issn | 1470-269X 1473-1150 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_67756505 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | African Americans - genetics Animals Base Sequence Biomedical and Life Sciences Biomedicine CYP3A7 protein Cytochrome P-450 CYP3A Cytochrome P-450 Enzyme System - genetics Cytochrome P450 Drug metabolism European Continental Ancestry Group - genetics Gene Expression Gene Frequency Haplotypes Human Genetics Humans Linkage Disequilibrium Minority & ethnic groups Molecular Sequence Data Multigene Family Oncology original-article Pharmacotherapy Phenotypes Polymorphism, Single Nucleotide Population genetics Psychopharmacology Sequence Analysis, DNA Single-nucleotide polymorphism Xenobiotics |
| title | Sequence diversity and haplotype structure at the human CYP3A cluster |
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