Variations in the MHC region confer risk to esophageal squamous cell carcinoma on the subjects from high-incidence area in northern China
The human major histocompatibility complex (MHC) is the most important region in vertebrate genome, and is crucial in innate immunity. Recent studies have demonstrated the possible role of polymorphisms in the MHC region to high risk for esophageal squamous cell carcinoma (ESCC). Our previous genome...
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| Veröffentlicht in: | PloS one 2014-03, Vol.9 (3), p.e90438-e90438 |
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| creator | Shen, Fang-Fang Yue, Wen-Bin Zhou, Fu-You Pan, Ying Zhao, Xue-Ke Jin, Yan Song, Xin Li, Bei Han, Xue-Na Tang, Sa Li, Yan Yuan, Guo Chen, Li-Sha Liu, Ya-Li Hu, Yan-Long Li, Xiu-Min Ren, Jing-Li Wang, Li-Dong |
| description | The human major histocompatibility complex (MHC) is the most important region in vertebrate genome, and is crucial in innate immunity. Recent studies have demonstrated the possible role of polymorphisms in the MHC region to high risk for esophageal squamous cell carcinoma (ESCC). Our previous genome-wide association study (GWAS) has indicated that the MHC region may confer important risk loci for ESCC, but without further fine mapping. The aim of this study is to further identify the risk loci in the MHC region for ESCC in Chinese population.
Conditional logistic regression analysis (CLRA) was performed on 24 single nucleotide polymorphisms (SNPs) within the MHC region, which were obtained from the genetically matched 937 cases and 692 controls of Chinese Han population. The identified promising SNPs were further correlated with clinical and clinicopathology characteristics. Immunohistochemistry was performed to explore the protein expression pattern of the related genes in ESCC and neighboring normal tissues.
Of the 24 promising SNPs analyzed, we identified three independent SNPs in the MHC region associated with ESCC: rs35399661 (P = 6.07E-06, OR = 1.71, 95%CI = 1.36-2.17), rs3763338 (P = 1.62E-05, OR = 0.63, 95%CI = 0.50-0.78) and rs2844695 (P = 7.60E-05, OR = 0.74, 95%CI = 0.64-0.86). These three SNPs were located at the genes of HLA-DQA1, TRIM27, and DPCR1, respectively. Further analyses showed that rs2844695 was preferentially associated with younger ESCC cases (P = 0.009). The positive immunostaining rates both for HLA-DQA1 and TRIM27 were much higher in ESCC tissues than in neighboring normal tissues (69.4% vs. 26.8% for HLA-DQA1 and 77.6% vs. 47.8% for TRIM27, P |
| doi_str_mv | 10.1371/journal.pone.0090438 |
| format | Article |
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Conditional logistic regression analysis (CLRA) was performed on 24 single nucleotide polymorphisms (SNPs) within the MHC region, which were obtained from the genetically matched 937 cases and 692 controls of Chinese Han population. The identified promising SNPs were further correlated with clinical and clinicopathology characteristics. Immunohistochemistry was performed to explore the protein expression pattern of the related genes in ESCC and neighboring normal tissues.
Of the 24 promising SNPs analyzed, we identified three independent SNPs in the MHC region associated with ESCC: rs35399661 (P = 6.07E-06, OR = 1.71, 95%CI = 1.36-2.17), rs3763338 (P = 1.62E-05, OR = 0.63, 95%CI = 0.50-0.78) and rs2844695 (P = 7.60E-05, OR = 0.74, 95%CI = 0.64-0.86). These three SNPs were located at the genes of HLA-DQA1, TRIM27, and DPCR1, respectively. Further analyses showed that rs2844695 was preferentially associated with younger ESCC cases (P = 0.009). The positive immunostaining rates both for HLA-DQA1 and TRIM27 were much higher in ESCC tissues than in neighboring normal tissues (69.4% vs. 26.8% for HLA-DQA1 and 77.6% vs. 47.8% for TRIM27, P<0.001). Furthermore, the overexpression of HLA-DQA1 is correlated significantly with age (P = 0.001) and family history (P<0.001).
This study for the first time provides evidence that multiple genetic factors within the MHC region confer risk to ESCC on the subjects from high-risk area in northern China.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0090438</identifier><identifier>PMID: 24595008</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Alcohol use ; Biology ; Carcinoma, Squamous Cell - epidemiology ; Carcinoma, Squamous Cell - genetics ; Carcinoma, Squamous Cell - pathology ; China - epidemiology ; DNA-Binding Proteins - genetics ; DQA1 protein ; Esophageal cancer ; Esophageal Neoplasms - epidemiology ; Esophageal Neoplasms - genetics ; Esophageal Neoplasms - pathology ; Esophageal Squamous Cell Carcinoma ; Esophagus ; Gene expression ; Gene mapping ; Genes ; Genetic aspects ; Genetic factors ; Genetic Predisposition to Disease ; Genetic research ; Genetics ; Genome-wide association studies ; Genomics ; Genotyping Techniques ; Histocompatibility antigen HLA ; HLA antigens ; HLA-DQ alpha-Chains - genetics ; Humans ; Immunity ; Immunohistochemistry ; Incidence ; Innate immunity ; Linkage Disequilibrium - genetics ; Loci ; Logistic Models ; Major histocompatibility complex ; Major Histocompatibility Complex - genetics ; Medicine ; Nuclear Proteins - genetics ; Polymorphism, Single Nucleotide - genetics ; Quality Control ; Regression analysis ; Risk ; Risk Factors ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Squamous cell carcinoma ; Tissues</subject><ispartof>PloS one, 2014-03, Vol.9 (3), p.e90438-e90438</ispartof><rights>COPYRIGHT 2014 Public Library of Science</rights><rights>2014 Shen 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>2014 Shen et al 2014 Shen et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-82f084a6e3799dcaa4299a2df39cfbfebdfcf4d240e199af46db505e5b47c3903</citedby><cites>FETCH-LOGICAL-c692t-82f084a6e3799dcaa4299a2df39cfbfebdfcf4d240e199af46db505e5b47c3903</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/PMC3942432/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942432/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79342,79343</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24595008$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shen, Fang-Fang</creatorcontrib><creatorcontrib>Yue, Wen-Bin</creatorcontrib><creatorcontrib>Zhou, Fu-You</creatorcontrib><creatorcontrib>Pan, Ying</creatorcontrib><creatorcontrib>Zhao, Xue-Ke</creatorcontrib><creatorcontrib>Jin, Yan</creatorcontrib><creatorcontrib>Song, Xin</creatorcontrib><creatorcontrib>Li, Bei</creatorcontrib><creatorcontrib>Han, Xue-Na</creatorcontrib><creatorcontrib>Tang, Sa</creatorcontrib><creatorcontrib>Li, Yan</creatorcontrib><creatorcontrib>Yuan, Guo</creatorcontrib><creatorcontrib>Chen, Li-Sha</creatorcontrib><creatorcontrib>Liu, Ya-Li</creatorcontrib><creatorcontrib>Hu, Yan-Long</creatorcontrib><creatorcontrib>Li, Xiu-Min</creatorcontrib><creatorcontrib>Ren, Jing-Li</creatorcontrib><creatorcontrib>Wang, Li-Dong</creatorcontrib><title>Variations in the MHC region confer risk to esophageal squamous cell carcinoma on the subjects from high-incidence area in northern China</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>The human major histocompatibility complex (MHC) is the most important region in vertebrate genome, and is crucial in innate immunity. Recent studies have demonstrated the possible role of polymorphisms in the MHC region to high risk for esophageal squamous cell carcinoma (ESCC). Our previous genome-wide association study (GWAS) has indicated that the MHC region may confer important risk loci for ESCC, but without further fine mapping. The aim of this study is to further identify the risk loci in the MHC region for ESCC in Chinese population.
Conditional logistic regression analysis (CLRA) was performed on 24 single nucleotide polymorphisms (SNPs) within the MHC region, which were obtained from the genetically matched 937 cases and 692 controls of Chinese Han population. The identified promising SNPs were further correlated with clinical and clinicopathology characteristics. Immunohistochemistry was performed to explore the protein expression pattern of the related genes in ESCC and neighboring normal tissues.
Of the 24 promising SNPs analyzed, we identified three independent SNPs in the MHC region associated with ESCC: rs35399661 (P = 6.07E-06, OR = 1.71, 95%CI = 1.36-2.17), rs3763338 (P = 1.62E-05, OR = 0.63, 95%CI = 0.50-0.78) and rs2844695 (P = 7.60E-05, OR = 0.74, 95%CI = 0.64-0.86). These three SNPs were located at the genes of HLA-DQA1, TRIM27, and DPCR1, respectively. Further analyses showed that rs2844695 was preferentially associated with younger ESCC cases (P = 0.009). The positive immunostaining rates both for HLA-DQA1 and TRIM27 were much higher in ESCC tissues than in neighboring normal tissues (69.4% vs. 26.8% for HLA-DQA1 and 77.6% vs. 47.8% for TRIM27, P<0.001). Furthermore, the overexpression of HLA-DQA1 is correlated significantly with age (P = 0.001) and family history (P<0.001).
This study for the first time provides evidence that multiple genetic factors within the MHC region confer risk to ESCC on the subjects from high-risk area in northern China.</description><subject>Alcohol use</subject><subject>Biology</subject><subject>Carcinoma, Squamous Cell - epidemiology</subject><subject>Carcinoma, Squamous Cell - genetics</subject><subject>Carcinoma, Squamous Cell - pathology</subject><subject>China - epidemiology</subject><subject>DNA-Binding Proteins - genetics</subject><subject>DQA1 protein</subject><subject>Esophageal cancer</subject><subject>Esophageal Neoplasms - epidemiology</subject><subject>Esophageal Neoplasms - genetics</subject><subject>Esophageal Neoplasms - pathology</subject><subject>Esophageal Squamous Cell Carcinoma</subject><subject>Esophagus</subject><subject>Gene expression</subject><subject>Gene mapping</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic factors</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic research</subject><subject>Genetics</subject><subject>Genome-wide association studies</subject><subject>Genomics</subject><subject>Genotyping Techniques</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA antigens</subject><subject>HLA-DQ alpha-Chains - genetics</subject><subject>Humans</subject><subject>Immunity</subject><subject>Immunohistochemistry</subject><subject>Incidence</subject><subject>Innate immunity</subject><subject>Linkage Disequilibrium - genetics</subject><subject>Loci</subject><subject>Logistic Models</subject><subject>Major histocompatibility complex</subject><subject>Major Histocompatibility Complex - genetics</subject><subject>Medicine</subject><subject>Nuclear Proteins - genetics</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Quality Control</subject><subject>Regression analysis</subject><subject>Risk</subject><subject>Risk Factors</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Squamous cell carcinoma</subject><subject>Tissues</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNk1tv0zAUxyMEYmPwDRBYQkLw0OJbmvgFaaqAVRqaxGWvluMcJy6J3dkJgo_At8Zpu6lFe0B5cHT8O_9z8TlZ9pzgOWEFebf2Y3Cqm2-8gznGAnNWPshOiWB0tqCYPTz4P8mexLjGOGflYvE4O6E8FznG5Wn251oFqwbrXUTWoaEF9PliiQI0yYS0dwYCCjb-QINHEP2mVQ2oDsWbUfV-jEhD1yGtgrbO9wr5nUYcqzXoISITfI9a27Qz67StwWlAKoCagjkfEhscWrbWqafZI6O6CM_251n2_eOHb8uL2eXVp9Xy_HKmF4IOs5IaXHK1AFYIUWulOBVC0dowoU1loKqNNrymHANJF4Yv6irHOeQVLzQTmJ1lL3e6m85Hue9ilCTHnAiCCU3EakfUXq3lJthehd_SKyu3Bh8aqcJgdQdS4EpThokoNOFleoG6wDWrCKYsJcBF0nq_jzZWPdQa3BBUdyR6fONsKxv_UzLBKWdTMm_2AsHfjBAH2ds4NV05SP3f5l1wkpdTZa_-Qe-vbk81KhVgnfEprp5E5TkvyqIoKSsTNb-HSl8NvU1jAcYm-5HD2yOHxAzwa2jUGKNcff3y_-zV9TH7-oBt0-wNbfTduB3ZY5DvQB18jAHMXZMJltPG3HZDThsj9xuT3F4cPtCd0-2KsL8pORHL</recordid><startdate>20140304</startdate><enddate>20140304</enddate><creator>Shen, Fang-Fang</creator><creator>Yue, Wen-Bin</creator><creator>Zhou, Fu-You</creator><creator>Pan, Ying</creator><creator>Zhao, Xue-Ke</creator><creator>Jin, Yan</creator><creator>Song, Xin</creator><creator>Li, Bei</creator><creator>Han, Xue-Na</creator><creator>Tang, Sa</creator><creator>Li, Yan</creator><creator>Yuan, Guo</creator><creator>Chen, Li-Sha</creator><creator>Liu, Ya-Li</creator><creator>Hu, Yan-Long</creator><creator>Li, Xiu-Min</creator><creator>Ren, Jing-Li</creator><creator>Wang, Li-Dong</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20140304</creationdate><title>Variations in the MHC region confer risk to esophageal squamous cell carcinoma on the subjects from high-incidence area in northern China</title><author>Shen, Fang-Fang ; Yue, Wen-Bin ; Zhou, Fu-You ; Pan, Ying ; Zhao, Xue-Ke ; Jin, Yan ; Song, Xin ; Li, Bei ; Han, Xue-Na ; Tang, Sa ; Li, Yan ; Yuan, Guo ; Chen, Li-Sha ; Liu, Ya-Li ; Hu, Yan-Long ; Li, Xiu-Min ; Ren, Jing-Li ; Wang, Li-Dong</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-82f084a6e3799dcaa4299a2df39cfbfebdfcf4d240e199af46db505e5b47c3903</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Alcohol use</topic><topic>Biology</topic><topic>Carcinoma, Squamous Cell - epidemiology</topic><topic>Carcinoma, Squamous Cell - genetics</topic><topic>Carcinoma, Squamous Cell - pathology</topic><topic>China - epidemiology</topic><topic>DNA-Binding Proteins - genetics</topic><topic>DQA1 protein</topic><topic>Esophageal cancer</topic><topic>Esophageal Neoplasms - epidemiology</topic><topic>Esophageal Neoplasms - genetics</topic><topic>Esophageal Neoplasms - pathology</topic><topic>Esophageal Squamous Cell Carcinoma</topic><topic>Esophagus</topic><topic>Gene expression</topic><topic>Gene mapping</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic factors</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic research</topic><topic>Genetics</topic><topic>Genome-wide association studies</topic><topic>Genomics</topic><topic>Genotyping Techniques</topic><topic>Histocompatibility antigen HLA</topic><topic>HLA antigens</topic><topic>HLA-DQ alpha-Chains - genetics</topic><topic>Humans</topic><topic>Immunity</topic><topic>Immunohistochemistry</topic><topic>Incidence</topic><topic>Innate immunity</topic><topic>Linkage Disequilibrium - genetics</topic><topic>Loci</topic><topic>Logistic Models</topic><topic>Major histocompatibility complex</topic><topic>Major Histocompatibility Complex - genetics</topic><topic>Medicine</topic><topic>Nuclear Proteins - genetics</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Quality Control</topic><topic>Regression analysis</topic><topic>Risk</topic><topic>Risk Factors</topic><topic>Single nucleotide polymorphisms</topic><topic>Single-nucleotide polymorphism</topic><topic>Squamous cell carcinoma</topic><topic>Tissues</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shen, Fang-Fang</creatorcontrib><creatorcontrib>Yue, Wen-Bin</creatorcontrib><creatorcontrib>Zhou, Fu-You</creatorcontrib><creatorcontrib>Pan, Ying</creatorcontrib><creatorcontrib>Zhao, Xue-Ke</creatorcontrib><creatorcontrib>Jin, Yan</creatorcontrib><creatorcontrib>Song, Xin</creatorcontrib><creatorcontrib>Li, Bei</creatorcontrib><creatorcontrib>Han, Xue-Na</creatorcontrib><creatorcontrib>Tang, Sa</creatorcontrib><creatorcontrib>Li, Yan</creatorcontrib><creatorcontrib>Yuan, Guo</creatorcontrib><creatorcontrib>Chen, Li-Sha</creatorcontrib><creatorcontrib>Liu, Ya-Li</creatorcontrib><creatorcontrib>Hu, Yan-Long</creatorcontrib><creatorcontrib>Li, Xiu-Min</creatorcontrib><creatorcontrib>Ren, Jing-Li</creatorcontrib><creatorcontrib>Wang, Li-Dong</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Immunology Abstracts</collection><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Agricultural Science Collection</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>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Technology 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>Materials Science & Engineering Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Advanced Technologies & Aerospace Collection</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Technology Collection</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Materials Science Collection</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>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Materials Science Database</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Meteorological & Geoastrophysical Abstracts - 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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>Shen, Fang-Fang</au><au>Yue, Wen-Bin</au><au>Zhou, Fu-You</au><au>Pan, Ying</au><au>Zhao, Xue-Ke</au><au>Jin, Yan</au><au>Song, Xin</au><au>Li, Bei</au><au>Han, Xue-Na</au><au>Tang, Sa</au><au>Li, Yan</au><au>Yuan, Guo</au><au>Chen, Li-Sha</au><au>Liu, Ya-Li</au><au>Hu, Yan-Long</au><au>Li, Xiu-Min</au><au>Ren, Jing-Li</au><au>Wang, Li-Dong</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Variations in the MHC region confer risk to esophageal squamous cell carcinoma on the subjects from high-incidence area in northern China</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2014-03-04</date><risdate>2014</risdate><volume>9</volume><issue>3</issue><spage>e90438</spage><epage>e90438</epage><pages>e90438-e90438</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>The human major histocompatibility complex (MHC) is the most important region in vertebrate genome, and is crucial in innate immunity. Recent studies have demonstrated the possible role of polymorphisms in the MHC region to high risk for esophageal squamous cell carcinoma (ESCC). Our previous genome-wide association study (GWAS) has indicated that the MHC region may confer important risk loci for ESCC, but without further fine mapping. The aim of this study is to further identify the risk loci in the MHC region for ESCC in Chinese population.
Conditional logistic regression analysis (CLRA) was performed on 24 single nucleotide polymorphisms (SNPs) within the MHC region, which were obtained from the genetically matched 937 cases and 692 controls of Chinese Han population. The identified promising SNPs were further correlated with clinical and clinicopathology characteristics. Immunohistochemistry was performed to explore the protein expression pattern of the related genes in ESCC and neighboring normal tissues.
Of the 24 promising SNPs analyzed, we identified three independent SNPs in the MHC region associated with ESCC: rs35399661 (P = 6.07E-06, OR = 1.71, 95%CI = 1.36-2.17), rs3763338 (P = 1.62E-05, OR = 0.63, 95%CI = 0.50-0.78) and rs2844695 (P = 7.60E-05, OR = 0.74, 95%CI = 0.64-0.86). These three SNPs were located at the genes of HLA-DQA1, TRIM27, and DPCR1, respectively. Further analyses showed that rs2844695 was preferentially associated with younger ESCC cases (P = 0.009). The positive immunostaining rates both for HLA-DQA1 and TRIM27 were much higher in ESCC tissues than in neighboring normal tissues (69.4% vs. 26.8% for HLA-DQA1 and 77.6% vs. 47.8% for TRIM27, P<0.001). Furthermore, the overexpression of HLA-DQA1 is correlated significantly with age (P = 0.001) and family history (P<0.001).
This study for the first time provides evidence that multiple genetic factors within the MHC region confer risk to ESCC on the subjects from high-risk area in northern China.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24595008</pmid><doi>10.1371/journal.pone.0090438</doi><tpages>e90438</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2014-03, Vol.9 (3), p.e90438-e90438 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1504191012 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS) |
| subjects | Alcohol use Biology Carcinoma, Squamous Cell - epidemiology Carcinoma, Squamous Cell - genetics Carcinoma, Squamous Cell - pathology China - epidemiology DNA-Binding Proteins - genetics DQA1 protein Esophageal cancer Esophageal Neoplasms - epidemiology Esophageal Neoplasms - genetics Esophageal Neoplasms - pathology Esophageal Squamous Cell Carcinoma Esophagus Gene expression Gene mapping Genes Genetic aspects Genetic factors Genetic Predisposition to Disease Genetic research Genetics Genome-wide association studies Genomics Genotyping Techniques Histocompatibility antigen HLA HLA antigens HLA-DQ alpha-Chains - genetics Humans Immunity Immunohistochemistry Incidence Innate immunity Linkage Disequilibrium - genetics Loci Logistic Models Major histocompatibility complex Major Histocompatibility Complex - genetics Medicine Nuclear Proteins - genetics Polymorphism, Single Nucleotide - genetics Quality Control Regression analysis Risk Risk Factors Single nucleotide polymorphisms Single-nucleotide polymorphism Squamous cell carcinoma Tissues |
| title | Variations in the MHC region confer risk to esophageal squamous cell carcinoma on the subjects from high-incidence area in northern China |
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