c.84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians
Coronary artery disease (CAD) is one of the leading causes of mortality worldwide. It is a multi-factorial disease and several studies have demonstrated that the genetic factors play a major role in CAD. Although variations in cholesteryl ester transfer protein (CETP) gene are reported to be associa...
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| description | Coronary artery disease (CAD) is one of the leading causes of mortality worldwide. It is a multi-factorial disease and several studies have demonstrated that the genetic factors play a major role in CAD. Although variations in cholesteryl ester transfer protein (CETP) gene are reported to be associated with CAD, this gene has not been studied in South Indian populations. Hence we evaluated the CETP gene variations in CAD patients of South Indian origin.
We sequenced all the exons, exon-intron boundaries and UTRs of CETP in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in CETP were subjected to various statistical analyses.
Our analysis revealed a total of 13 variations. Of these, one3'UTRvariant rs1801706 (c.*84G>A) was significantly associated with CAD (genotype association test: OR = 2.16, 95% CI: 1.50-3.10, p = 1.88x10-5 and allelic association test: OR = 1.92, 95% CI: 1.40-2.63, p = 2.57x10-5). Mutant allele "A" was observed to influence the higher concentration of mRNA (p = 7.09×10-3, R2 = 0.029 and β = 0.2163). Since expression of CETP has been shown to be positively correlated with the risk of CAD, higher frequency of "A" allele (patients: 22.69% vs.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.
This is the first report of the CETP gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population. |
| doi_str_mv | 10.1371/journal.pone.0164151 |
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We sequenced all the exons, exon-intron boundaries and UTRs of CETP in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in CETP were subjected to various statistical analyses.
Our analysis revealed a total of 13 variations. Of these, one3'UTRvariant rs1801706 (c.*84G>A) was significantly associated with CAD (genotype association test: OR = 2.16, 95% CI: 1.50-3.10, p = 1.88x10-5 and allelic association test: OR = 1.92, 95% CI: 1.40-2.63, p = 2.57x10-5). Mutant allele "A" was observed to influence the higher concentration of mRNA (p = 7.09×10-3, R2 = 0.029 and β = 0.2163). Since expression of CETP has been shown to be positively correlated with the risk of CAD, higher frequency of "A" allele (patients: 22.69% vs.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.
This is the first report of the CETP gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0164151</identifier><identifier>PMID: 27768712</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Aged ; Alleles ; Atherosclerosis ; Biology and Life Sciences ; Cardiovascular disease ; CETP gene ; Cholesterol ; Cholesterol Ester Transfer Proteins - genetics ; Cholesterol, HDL - metabolism ; Cholesteryl ester transfer protein ; Coronary artery ; Coronary artery disease ; Coronary Artery Disease - genetics ; Coronary vessels ; Deoxyribonucleic acid ; Diabetes ; DNA ; Exons ; Family medical history ; Female ; Gene expression ; Gene frequency ; Genetic factors ; Genomes ; Genomics ; Genotype ; Genotypes ; Health risk assessment ; Heart diseases ; Hospitals ; Humans ; India ; Introns ; Lipids ; Low density lipoprotein ; Male ; Medicine and Health Sciences ; Metabolism ; Middle Aged ; Molecular biology ; Mortality ; mRNA ; Mutation ; Patients ; Population ; Population (statistical) ; Proteins ; Research and Analysis Methods ; Risk factors ; Statistical analysis ; Studies ; Untranslated Regions ; Variation</subject><ispartof>PloS one, 2016-10, Vol.11 (10), p.e0164151-e0164151</ispartof><rights>2016 Ganesan et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2016 Ganesan et al 2016 Ganesan et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c489t-5022e37a2c94215223a5f7eba4a02481091d4c700c501db3b71b315d3b09d4a23</citedby><cites>FETCH-LOGICAL-c489t-5022e37a2c94215223a5f7eba4a02481091d4c700c501db3b71b315d3b09d4a23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074517/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074517/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23847,27903,27904,53768,53770,79345,79346</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27768712$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Yao, Yong-Gang</contributor><creatorcontrib>Ganesan, Mala</creatorcontrib><creatorcontrib>Nizamuddin, Sheikh</creatorcontrib><creatorcontrib>Katkam, Shiva Krishna</creatorcontrib><creatorcontrib>Kumaraswami, Konda</creatorcontrib><creatorcontrib>Hosad, Uday Kumar</creatorcontrib><creatorcontrib>Lobo, Limmy Loret</creatorcontrib><creatorcontrib>Kutala, Vijay Kumar</creatorcontrib><creatorcontrib>Thangaraj, Kumarasamy</creatorcontrib><title>c.84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Coronary artery disease (CAD) is one of the leading causes of mortality worldwide. It is a multi-factorial disease and several studies have demonstrated that the genetic factors play a major role in CAD. Although variations in cholesteryl ester transfer protein (CETP) gene are reported to be associated with CAD, this gene has not been studied in South Indian populations. Hence we evaluated the CETP gene variations in CAD patients of South Indian origin.
We sequenced all the exons, exon-intron boundaries and UTRs of CETP in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in CETP were subjected to various statistical analyses.
Our analysis revealed a total of 13 variations. Of these, one3'UTRvariant rs1801706 (c.*84G>A) was significantly associated with CAD (genotype association test: OR = 2.16, 95% CI: 1.50-3.10, p = 1.88x10-5 and allelic association test: OR = 1.92, 95% CI: 1.40-2.63, p = 2.57x10-5). Mutant allele "A" was observed to influence the higher concentration of mRNA (p = 7.09×10-3, R2 = 0.029 and β = 0.2163). Since expression of CETP has been shown to be positively correlated with the risk of CAD, higher frequency of "A" allele (patients: 22.69% vs.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.
This is the first report of the CETP gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population.</description><subject>Aged</subject><subject>Alleles</subject><subject>Atherosclerosis</subject><subject>Biology and Life Sciences</subject><subject>Cardiovascular disease</subject><subject>CETP gene</subject><subject>Cholesterol</subject><subject>Cholesterol Ester Transfer Proteins - genetics</subject><subject>Cholesterol, HDL - metabolism</subject><subject>Cholesteryl ester transfer protein</subject><subject>Coronary artery</subject><subject>Coronary artery disease</subject><subject>Coronary Artery Disease - genetics</subject><subject>Coronary vessels</subject><subject>Deoxyribonucleic acid</subject><subject>Diabetes</subject><subject>DNA</subject><subject>Exons</subject><subject>Family medical history</subject><subject>Female</subject><subject>Gene expression</subject><subject>Gene frequency</subject><subject>Genetic factors</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Genotype</subject><subject>Genotypes</subject><subject>Health risk assessment</subject><subject>Heart diseases</subject><subject>Hospitals</subject><subject>Humans</subject><subject>India</subject><subject>Introns</subject><subject>Lipids</subject><subject>Low density lipoprotein</subject><subject>Male</subject><subject>Medicine and Health Sciences</subject><subject>Metabolism</subject><subject>Middle Aged</subject><subject>Molecular biology</subject><subject>Mortality</subject><subject>mRNA</subject><subject>Mutation</subject><subject>Patients</subject><subject>Population</subject><subject>Population (statistical)</subject><subject>Proteins</subject><subject>Research and Analysis Methods</subject><subject>Risk factors</subject><subject>Statistical analysis</subject><subject>Studies</subject><subject>Untranslated 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Mutation in CETP Is Associated with Coronary Artery Disease in South Indians</title><author>Ganesan, Mala ; Nizamuddin, Sheikh ; Katkam, Shiva Krishna ; Kumaraswami, Konda ; Hosad, Uday Kumar ; Lobo, Limmy Loret ; Kutala, Vijay Kumar ; Thangaraj, Kumarasamy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c489t-5022e37a2c94215223a5f7eba4a02481091d4c700c501db3b71b315d3b09d4a23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Aged</topic><topic>Alleles</topic><topic>Atherosclerosis</topic><topic>Biology and Life Sciences</topic><topic>Cardiovascular disease</topic><topic>CETP gene</topic><topic>Cholesterol</topic><topic>Cholesterol Ester Transfer Proteins - genetics</topic><topic>Cholesterol, HDL - metabolism</topic><topic>Cholesteryl ester transfer protein</topic><topic>Coronary artery</topic><topic>Coronary artery disease</topic><topic>Coronary Artery Disease - genetics</topic><topic>Coronary vessels</topic><topic>Deoxyribonucleic acid</topic><topic>Diabetes</topic><topic>DNA</topic><topic>Exons</topic><topic>Family medical history</topic><topic>Female</topic><topic>Gene expression</topic><topic>Gene frequency</topic><topic>Genetic factors</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Genotype</topic><topic>Genotypes</topic><topic>Health risk assessment</topic><topic>Heart diseases</topic><topic>Hospitals</topic><topic>Humans</topic><topic>India</topic><topic>Introns</topic><topic>Lipids</topic><topic>Low density lipoprotein</topic><topic>Male</topic><topic>Medicine and Health Sciences</topic><topic>Metabolism</topic><topic>Middle Aged</topic><topic>Molecular biology</topic><topic>Mortality</topic><topic>mRNA</topic><topic>Mutation</topic><topic>Patients</topic><topic>Population</topic><topic>Population (statistical)</topic><topic>Proteins</topic><topic>Research and Analysis Methods</topic><topic>Risk 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ganesan, Mala</au><au>Nizamuddin, Sheikh</au><au>Katkam, Shiva Krishna</au><au>Kumaraswami, Konda</au><au>Hosad, Uday Kumar</au><au>Lobo, Limmy Loret</au><au>Kutala, Vijay Kumar</au><au>Thangaraj, Kumarasamy</au><au>Yao, Yong-Gang</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>c.84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2016-10-21</date><risdate>2016</risdate><volume>11</volume><issue>10</issue><spage>e0164151</spage><epage>e0164151</epage><pages>e0164151-e0164151</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Coronary artery disease (CAD) is one of the leading causes of mortality worldwide. It is a multi-factorial disease and several studies have demonstrated that the genetic factors play a major role in CAD. Although variations in cholesteryl ester transfer protein (CETP) gene are reported to be associated with CAD, this gene has not been studied in South Indian populations. Hence we evaluated the CETP gene variations in CAD patients of South Indian origin.
We sequenced all the exons, exon-intron boundaries and UTRs of CETP in 323 CAD patients along with 300 ethnically and age matched controls. Variations observed in CETP were subjected to various statistical analyses.
Our analysis revealed a total of 13 variations. Of these, one3'UTRvariant rs1801706 (c.*84G>A) was significantly associated with CAD (genotype association test: OR = 2.16, 95% CI: 1.50-3.10, p = 1.88x10-5 and allelic association test: OR = 1.92, 95% CI: 1.40-2.63, p = 2.57x10-5). Mutant allele "A" was observed to influence the higher concentration of mRNA (p = 7.09×10-3, R2 = 0.029 and β = 0.2163). Since expression of CETP has been shown to be positively correlated with the risk of CAD, higher frequency of "A" allele (patients: 22.69% vs.controls: 13%) reveals that c.*84G>A is a risk factor for CAD in South Indians.
This is the first report of the CETP gene among South Indians CAD patients. Our results suggest that rs1801706 (c.*84G>A) is a risk factor for CAD in South Indian population.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>27768712</pmid><doi>10.1371/journal.pone.0164151</doi><oa>free_for_read</oa></addata></record> |
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| subjects | Aged Alleles Atherosclerosis Biology and Life Sciences Cardiovascular disease CETP gene Cholesterol Cholesterol Ester Transfer Proteins - genetics Cholesterol, HDL - metabolism Cholesteryl ester transfer protein Coronary artery Coronary artery disease Coronary Artery Disease - genetics Coronary vessels Deoxyribonucleic acid Diabetes DNA Exons Family medical history Female Gene expression Gene frequency Genetic factors Genomes Genomics Genotype Genotypes Health risk assessment Heart diseases Hospitals Humans India Introns Lipids Low density lipoprotein Male Medicine and Health Sciences Metabolism Middle Aged Molecular biology Mortality mRNA Mutation Patients Population Population (statistical) Proteins Research and Analysis Methods Risk factors Statistical analysis Studies Untranslated Regions Variation |
| title | c.84G>A Mutation in CETP Is Associated with Coronary Artery Disease in South Indians |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-28T07%3A54%3A37IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=c.84G%3EA%20Mutation%20in%20CETP%20Is%20Associated%20with%20Coronary%20Artery%20Disease%20in%20South%20Indians&rft.jtitle=PloS%20one&rft.au=Ganesan,%20Mala&rft.date=2016-10-21&rft.volume=11&rft.issue=10&rft.spage=e0164151&rft.epage=e0164151&rft.pages=e0164151-e0164151&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0164151&rft_dat=%3Cproquest_plos_%3E4223280311%3C/proquest_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1830874076&rft_id=info:pmid/27768712&rft_doaj_id=oai_doaj_org_article_a14c82cc240c447a9e210ff1c6e09763&rfr_iscdi=true |