Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children
Human β -defensin (HBD)-1 is constitutively expressed in the airway, and hBD-1 plays crucial roles in innate immunity against respiratory pathogens. Asthma was associated with DEFB1 polymorphisms in Caucasians. This study investigates whether three single nucleotide polymorphisms (SNPs) in 5′-untran...
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| Veröffentlicht in: | Genes and immunity 2006-01, Vol.7 (1), p.59-64 |
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| creator | Leung, T F Li, C Y Liu, E K H Tang, N L S Chan, I H S Yung, E Wong, G W K Lam, C W K |
| description | Human
β
-defensin (HBD)-1 is constitutively expressed in the airway, and hBD-1 plays crucial roles in innate immunity against respiratory pathogens. Asthma was associated with
DEFB1
polymorphisms in Caucasians. This study investigates whether three single nucleotide polymorphisms (SNPs) in 5′-untranslated region of
DEFB1
are associated with asthma phenotypes in Chinese children. Subjects aged 5–18 years were recruited from general pediatric clinics. Plasma IgE concentrations were measured by immunoassays.
DEFB1
SNPs were characterized by restriction fragment length polymorphism. In all, 305 asthmatics and 156 controls were recruited. For asthma diagnosis, atopy and plasma total IgE, higher percentages of subjects with these outcomes had the minor alleles −20A and −52G (
P
=0.041–0.0002). For log-transformed total IgE, the covariate was positive and significant for G-20A under recessive model (
P
=0.001) and for G-52A under both recessive and codominant models (
P
=0.008 and 0.035). The recessive model covariate was also positive and significant (
P
=0.020) for C-44G on peripheral blood eosinophil count. The GCA haplotype of
DEFB1
was significantly associated with asthma (odds ratio (95% confidence interval): 1.64 (1.05–2.57);
P
=0.029). These results suggest that
DEFB1
is a candidate gene for asthma and atopy in children. |
| doi_str_mv | 10.1038/sj.gene.6364279 |
| format | Article |
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β
-defensin (HBD)-1 is constitutively expressed in the airway, and hBD-1 plays crucial roles in innate immunity against respiratory pathogens. Asthma was associated with
DEFB1
polymorphisms in Caucasians. This study investigates whether three single nucleotide polymorphisms (SNPs) in 5′-untranslated region of
DEFB1
are associated with asthma phenotypes in Chinese children. Subjects aged 5–18 years were recruited from general pediatric clinics. Plasma IgE concentrations were measured by immunoassays.
DEFB1
SNPs were characterized by restriction fragment length polymorphism. In all, 305 asthmatics and 156 controls were recruited. For asthma diagnosis, atopy and plasma total IgE, higher percentages of subjects with these outcomes had the minor alleles −20A and −52G (
P
=0.041–0.0002). For log-transformed total IgE, the covariate was positive and significant for G-20A under recessive model (
P
=0.001) and for G-52A under both recessive and codominant models (
P
=0.008 and 0.035). The recessive model covariate was also positive and significant (
P
=0.020) for C-44G on peripheral blood eosinophil count. The GCA haplotype of
DEFB1
was significantly associated with asthma (odds ratio (95% confidence interval): 1.64 (1.05–2.57);
P
=0.029). These results suggest that
DEFB1
is a candidate gene for asthma and atopy in children.</description><identifier>ISSN: 1466-4879</identifier><identifier>EISSN: 1476-5470</identifier><identifier>DOI: 10.1038/sj.gene.6364279</identifier><identifier>PMID: 16435024</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>5' Untranslated Regions ; Adolescent ; Allergic reaction ; Allergy ; Asian Continental Ancestry Group - genetics ; Asthma ; Asthma - genetics ; Asthma - immunology ; Atopy ; beta-Defensins - genetics ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Case-Control Studies ; Child ; Child, Preschool ; Children ; Diagnosis ; European Continental Ancestry Group - genetics ; Female ; Gene Expression ; Genetic polymorphisms ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; Health aspects ; Human Genetics ; Humans ; Hypersensitivity, Immediate - genetics ; Hypersensitivity, Immediate - immunology ; Immunoglobulin E ; Immunology ; Innate immunity ; Leukocytes (eosinophilic) ; Male ; original-article ; Pediatrics ; Peripheral blood ; Phenotype ; Phenotypes ; Polymorphism, Genetic ; Quantitative Trait, Heritable ; Respiratory diseases ; Restriction fragment length polymorphism ; Risk factors ; Single-nucleotide polymorphism</subject><ispartof>Genes and immunity, 2006-01, Vol.7 (1), p.59-64</ispartof><rights>Springer Nature Limited 2006</rights><rights>COPYRIGHT 2006 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jan 2006</rights><rights>Nature Publishing Group 2006.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c492t-bfb5bfe899b692405b9c3738b930de478401d1cdc5bf8986f5c534e6e61e3c7b3</citedby><cites>FETCH-LOGICAL-c492t-bfb5bfe899b692405b9c3738b930de478401d1cdc5bf8986f5c534e6e61e3c7b3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.gene.6364279$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.gene.6364279$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16435024$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Leung, T F</creatorcontrib><creatorcontrib>Li, C Y</creatorcontrib><creatorcontrib>Liu, E K H</creatorcontrib><creatorcontrib>Tang, N L S</creatorcontrib><creatorcontrib>Chan, I H S</creatorcontrib><creatorcontrib>Yung, E</creatorcontrib><creatorcontrib>Wong, G W K</creatorcontrib><creatorcontrib>Lam, C W K</creatorcontrib><title>Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children</title><title>Genes and immunity</title><addtitle>Genes Immun</addtitle><addtitle>Genes Immun</addtitle><description>Human
β
-defensin (HBD)-1 is constitutively expressed in the airway, and hBD-1 plays crucial roles in innate immunity against respiratory pathogens. Asthma was associated with
DEFB1
polymorphisms in Caucasians. This study investigates whether three single nucleotide polymorphisms (SNPs) in 5′-untranslated region of
DEFB1
are associated with asthma phenotypes in Chinese children. Subjects aged 5–18 years were recruited from general pediatric clinics. Plasma IgE concentrations were measured by immunoassays.
DEFB1
SNPs were characterized by restriction fragment length polymorphism. In all, 305 asthmatics and 156 controls were recruited. For asthma diagnosis, atopy and plasma total IgE, higher percentages of subjects with these outcomes had the minor alleles −20A and −52G (
P
=0.041–0.0002). For log-transformed total IgE, the covariate was positive and significant for G-20A under recessive model (
P
=0.001) and for G-52A under both recessive and codominant models (
P
=0.008 and 0.035). The recessive model covariate was also positive and significant (
P
=0.020) for C-44G on peripheral blood eosinophil count. The GCA haplotype of
DEFB1
was significantly associated with asthma (odds ratio (95% confidence interval): 1.64 (1.05–2.57);
P
=0.029). These results suggest that
DEFB1
is a candidate gene for asthma and atopy in children.</description><subject>5' Untranslated Regions</subject><subject>Adolescent</subject><subject>Allergic reaction</subject><subject>Allergy</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Asthma</subject><subject>Asthma - genetics</subject><subject>Asthma - immunology</subject><subject>Atopy</subject><subject>beta-Defensins - genetics</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Diagnosis</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Genetic polymorphisms</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Health aspects</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Hypersensitivity, Immediate - genetics</subject><subject>Hypersensitivity, Immediate - immunology</subject><subject>Immunoglobulin E</subject><subject>Immunology</subject><subject>Innate immunity</subject><subject>Leukocytes (eosinophilic)</subject><subject>Male</subject><subject>original-article</subject><subject>Pediatrics</subject><subject>Peripheral blood</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>Polymorphism, Genetic</subject><subject>Quantitative Trait, Heritable</subject><subject>Respiratory diseases</subject><subject>Restriction fragment length polymorphism</subject><subject>Risk factors</subject><subject>Single-nucleotide polymorphism</subject><issn>1466-4879</issn><issn>1476-5470</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>eNp10s2LEzEUAPBBFHddPXuToCB4mG4yyeTjWOuuLhQEP84hk3nTSZlJajKD9r83pYVScckhIfm9lxfyiuI1wQuCqbxN28UGPCw45awS6klxTZjgZc0EfnpYc14yKdRV8SKlLcaEE66eF1eEM1rjil0X62Wa-tEg41tkprDbIxMBmZSCdWaCFv12U48-3d1_JGgXhv0Y4q53aUzIebTqnYcEyPZuaCP4l8WzzgwJXp3mm-Ln_d2P1Zdy_fXzw2q5Li1T1VQ2XVM3HUilGq4qhutGWSqobBTFLTAhGSYtsa3NSirJu9rWlAEHToBa0dCb4v0x7y6GXzOkSY8uWRgG4yHMSQssCCa4yvDdP3Ab5uhzbbrijAiGKSdZvX1UESlVhuqcamMG0M53YYrGHu7VSyIrVeFcY1aL_6g8WhidDR46l_cvAj5cBGQzwZ9pY-aU9MP3b5f29mhtDClF6PQuutHEvSZYH9pBp60-tIM-tUOOeHN62dyM0J796f8zwEeQ8pHfQDw__bGcfwFQHL1u</recordid><startdate>20060101</startdate><enddate>20060101</enddate><creator>Leung, T F</creator><creator>Li, C Y</creator><creator>Liu, E K H</creator><creator>Tang, N L S</creator><creator>Chan, I H S</creator><creator>Yung, E</creator><creator>Wong, G W K</creator><creator>Lam, C W K</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>ISR</scope><scope>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</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>H94</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>20060101</creationdate><title>Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children</title><author>Leung, T F ; Li, C Y ; Liu, E K H ; Tang, N L S ; Chan, I H S ; Yung, E ; Wong, G W K ; Lam, C W K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c492t-bfb5bfe899b692405b9c3738b930de478401d1cdc5bf8986f5c534e6e61e3c7b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>5' Untranslated Regions</topic><topic>Adolescent</topic><topic>Allergic reaction</topic><topic>Allergy</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Asthma</topic><topic>Asthma - genetics</topic><topic>Asthma - immunology</topic><topic>Atopy</topic><topic>beta-Defensins - genetics</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Diagnosis</topic><topic>European Continental Ancestry Group - genetics</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Genetic polymorphisms</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Health aspects</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Hypersensitivity, Immediate - genetics</topic><topic>Hypersensitivity, Immediate - immunology</topic><topic>Immunoglobulin E</topic><topic>Immunology</topic><topic>Innate immunity</topic><topic>Leukocytes (eosinophilic)</topic><topic>Male</topic><topic>original-article</topic><topic>Pediatrics</topic><topic>Peripheral blood</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>Polymorphism, Genetic</topic><topic>Quantitative Trait, Heritable</topic><topic>Respiratory diseases</topic><topic>Restriction fragment length polymorphism</topic><topic>Risk factors</topic><topic>Single-nucleotide polymorphism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Leung, T F</creatorcontrib><creatorcontrib>Li, C Y</creatorcontrib><creatorcontrib>Liu, E K H</creatorcontrib><creatorcontrib>Tang, N L S</creatorcontrib><creatorcontrib>Chan, I H S</creatorcontrib><creatorcontrib>Yung, E</creatorcontrib><creatorcontrib>Wong, G W K</creatorcontrib><creatorcontrib>Lam, C W K</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: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</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 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>AIDS and Cancer Research Abstracts</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>Genes and immunity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Leung, T F</au><au>Li, C Y</au><au>Liu, E K H</au><au>Tang, N L S</au><au>Chan, I H S</au><au>Yung, E</au><au>Wong, G W K</au><au>Lam, C W K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children</atitle><jtitle>Genes and immunity</jtitle><stitle>Genes Immun</stitle><addtitle>Genes Immun</addtitle><date>2006-01-01</date><risdate>2006</risdate><volume>7</volume><issue>1</issue><spage>59</spage><epage>64</epage><pages>59-64</pages><issn>1466-4879</issn><eissn>1476-5470</eissn><abstract>Human
β
-defensin (HBD)-1 is constitutively expressed in the airway, and hBD-1 plays crucial roles in innate immunity against respiratory pathogens. Asthma was associated with
DEFB1
polymorphisms in Caucasians. This study investigates whether three single nucleotide polymorphisms (SNPs) in 5′-untranslated region of
DEFB1
are associated with asthma phenotypes in Chinese children. Subjects aged 5–18 years were recruited from general pediatric clinics. Plasma IgE concentrations were measured by immunoassays.
DEFB1
SNPs were characterized by restriction fragment length polymorphism. In all, 305 asthmatics and 156 controls were recruited. For asthma diagnosis, atopy and plasma total IgE, higher percentages of subjects with these outcomes had the minor alleles −20A and −52G (
P
=0.041–0.0002). For log-transformed total IgE, the covariate was positive and significant for G-20A under recessive model (
P
=0.001) and for G-52A under both recessive and codominant models (
P
=0.008 and 0.035). The recessive model covariate was also positive and significant (
P
=0.020) for C-44G on peripheral blood eosinophil count. The GCA haplotype of
DEFB1
was significantly associated with asthma (odds ratio (95% confidence interval): 1.64 (1.05–2.57);
P
=0.029). These results suggest that
DEFB1
is a candidate gene for asthma and atopy in children.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>16435024</pmid><doi>10.1038/sj.gene.6364279</doi><tpages>6</tpages></addata></record> |
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| ispartof | Genes and immunity, 2006-01, Vol.7 (1), p.59-64 |
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| language | eng |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; SpringerLink Journals - AutoHoldings |
| subjects | 5' Untranslated Regions Adolescent Allergic reaction Allergy Asian Continental Ancestry Group - genetics Asthma Asthma - genetics Asthma - immunology Atopy beta-Defensins - genetics Biomedical and Life Sciences Biomedicine Cancer Research Case-Control Studies Child Child, Preschool Children Diagnosis European Continental Ancestry Group - genetics Female Gene Expression Genetic polymorphisms Genetic Predisposition to Disease Genotype Haplotypes Health aspects Human Genetics Humans Hypersensitivity, Immediate - genetics Hypersensitivity, Immediate - immunology Immunoglobulin E Immunology Innate immunity Leukocytes (eosinophilic) Male original-article Pediatrics Peripheral blood Phenotype Phenotypes Polymorphism, Genetic Quantitative Trait, Heritable Respiratory diseases Restriction fragment length polymorphism Risk factors Single-nucleotide polymorphism |
| title | Asthma and atopy are associated with DEFB1 polymorphisms in Chinese children |
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