Capture of Type 1 Diabetes-Susceptible HLA DR-DQ Haplotypes in Japanese Subjects Using a Tag Single Nucleotide Polymorphism
OBJECTIVE: To identify type 1 diabetes-susceptible HLA DR-DQ haplotypes using tag single nucleotide polymorphisms (SNPs) and to estimate the disease risk using these tag SNPs. RESEARCH DESIGN AND METHODS: Five tag SNPs were typed in a total of 211 Japanese subjects including 201 patients with type 1...
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| Veröffentlicht in: | Diabetes care 2010-01, Vol.33 (1), p.162-164 |
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| creator | Nakanishi, Koji Shima, Yukio |
| description | OBJECTIVE: To identify type 1 diabetes-susceptible HLA DR-DQ haplotypes using tag single nucleotide polymorphisms (SNPs) and to estimate the disease risk using these tag SNPs. RESEARCH DESIGN AND METHODS: Five tag SNPs were typed in a total of 211 Japanese subjects including 201 patients with type 1 diabetes who had already been typed for HLA-DRB1, -DQA1, and -DQB1 alleles and 300 control subjects. RESULTS: Tag SNP rs2395185 captured haplotypes involving all DR4 specificities and DR9 specificity with a sensitivity of 98.5% and specificity of 94.9%. Using the T allele of rs2395185, we obtained an odds ratio (95% CI) of 2.87 (2.21-3.74) for type 1 diabetes. In addition, rs3129888 captured haplotypes involving HLA-DRB1*0802 with a sensitivity of 92.3% and specificity of 98.9%. CONCLUSIONS: Typing of two tag SNPs (rs2395185 and rs3129888) may be useful for the screening of Japanese subjects at genetic risk of type 1 diabetes. |
| doi_str_mv | 10.2337/dc09-1210 |
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RESEARCH DESIGN AND METHODS: Five tag SNPs were typed in a total of 211 Japanese subjects including 201 patients with type 1 diabetes who had already been typed for HLA-DRB1, -DQA1, and -DQB1 alleles and 300 control subjects. RESULTS: Tag SNP rs2395185 captured haplotypes involving all DR4 specificities and DR9 specificity with a sensitivity of 98.5% and specificity of 94.9%. Using the T allele of rs2395185, we obtained an odds ratio (95% CI) of 2.87 (2.21-3.74) for type 1 diabetes. In addition, rs3129888 captured haplotypes involving HLA-DRB1*0802 with a sensitivity of 92.3% and specificity of 98.9%. CONCLUSIONS: Typing of two tag SNPs (rs2395185 and rs3129888) may be useful for the screening of Japanese subjects at genetic risk of type 1 diabetes.</description><identifier>ISSN: 0149-5992</identifier><identifier>EISSN: 1935-5548</identifier><identifier>DOI: 10.2337/dc09-1210</identifier><identifier>PMID: 19837788</identifier><identifier>CODEN: DICAD2</identifier><language>eng</language><publisher>Alexandria, VA: American Diabetes Association</publisher><subject>Adult ; Asian Continental Ancestry Group - genetics ; Biological and medical sciences ; Diabetes ; Diabetes Mellitus, Type 1 - genetics ; Diabetes. Impaired glucose tolerance ; Diabetics ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Etiopathogenesis. Screening. Investigations. Target tissue resistance ; Female ; Genetic aspects ; Genetic Predisposition to Disease - genetics ; Genotype ; Genotype & phenotype ; Haplotypes ; HLA-DQ alpha-Chains ; HLA-DQ Antigens - genetics ; HLA-DQ beta-Chains ; HLA-DR Antigens - genetics ; HLA-DRB1 Chains ; Human subjects ; Humans ; Male ; Medical research ; Medical sciences ; Medicine, Experimental ; Metabolic diseases ; Middle Aged ; Miscellaneous ; Original Research ; Polymorphism, Single Nucleotide - genetics ; Polymorphism, Single Nucleotide - physiology ; Public health. Hygiene ; Public health. Hygiene-occupational medicine ; Type 1 diabetes ; Young Adult</subject><ispartof>Diabetes care, 2010-01, Vol.33 (1), p.162-164</ispartof><rights>2015 INIST-CNRS</rights><rights>COPYRIGHT 2010 American Diabetes Association</rights><rights>Copyright American Diabetes Association Jan 2010</rights><rights>2010 by the American Diabetes Association. 2010</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c660t-68e4cbdcac927414deddb148375f32ca4c5ea738624eddb04a5181799ec97fe03</citedby><cites>FETCH-LOGICAL-c660t-68e4cbdcac927414deddb148375f32ca4c5ea738624eddb04a5181799ec97fe03</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=22282860$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19837788$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nakanishi, Koji</creatorcontrib><creatorcontrib>Shima, Yukio</creatorcontrib><title>Capture of Type 1 Diabetes-Susceptible HLA DR-DQ Haplotypes in Japanese Subjects Using a Tag Single Nucleotide Polymorphism</title><title>Diabetes care</title><addtitle>Diabetes Care</addtitle><description>OBJECTIVE: To identify type 1 diabetes-susceptible HLA DR-DQ haplotypes using tag single nucleotide polymorphisms (SNPs) and to estimate the disease risk using these tag SNPs. RESEARCH DESIGN AND METHODS: Five tag SNPs were typed in a total of 211 Japanese subjects including 201 patients with type 1 diabetes who had already been typed for HLA-DRB1, -DQA1, and -DQB1 alleles and 300 control subjects. RESULTS: Tag SNP rs2395185 captured haplotypes involving all DR4 specificities and DR9 specificity with a sensitivity of 98.5% and specificity of 94.9%. Using the T allele of rs2395185, we obtained an odds ratio (95% CI) of 2.87 (2.21-3.74) for type 1 diabetes. In addition, rs3129888 captured haplotypes involving HLA-DRB1*0802 with a sensitivity of 92.3% and specificity of 98.9%. CONCLUSIONS: Typing of two tag SNPs (rs2395185 and rs3129888) may be useful for the screening of Japanese subjects at genetic risk of type 1 diabetes.</description><subject>Adult</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biological and medical sciences</subject><subject>Diabetes</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>Diabetes. Impaired glucose tolerance</subject><subject>Diabetics</subject><subject>Endocrine pancreas. Apud cells (diseases)</subject><subject>Endocrinopathies</subject><subject>Etiopathogenesis. Screening. Investigations. Target tissue resistance</subject><subject>Female</subject><subject>Genetic aspects</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Haplotypes</subject><subject>HLA-DQ alpha-Chains</subject><subject>HLA-DQ Antigens - genetics</subject><subject>HLA-DQ beta-Chains</subject><subject>HLA-DR Antigens - genetics</subject><subject>HLA-DRB1 Chains</subject><subject>Human subjects</subject><subject>Humans</subject><subject>Male</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Medicine, Experimental</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Miscellaneous</subject><subject>Original Research</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Polymorphism, Single Nucleotide - physiology</subject><subject>Public health. Hygiene</subject><subject>Public health. 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Impaired glucose tolerance</topic><topic>Diabetics</topic><topic>Endocrine pancreas. Apud cells (diseases)</topic><topic>Endocrinopathies</topic><topic>Etiopathogenesis. Screening. Investigations. Target tissue resistance</topic><topic>Female</topic><topic>Genetic aspects</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Haplotypes</topic><topic>HLA-DQ alpha-Chains</topic><topic>HLA-DQ Antigens - genetics</topic><topic>HLA-DQ beta-Chains</topic><topic>HLA-DR Antigens - genetics</topic><topic>HLA-DRB1 Chains</topic><topic>Human subjects</topic><topic>Humans</topic><topic>Male</topic><topic>Medical research</topic><topic>Medical sciences</topic><topic>Medicine, Experimental</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Miscellaneous</topic><topic>Original Research</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Polymorphism, Single Nucleotide - physiology</topic><topic>Public health. Hygiene</topic><topic>Public health. Hygiene-occupational medicine</topic><topic>Type 1 diabetes</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nakanishi, Koji</creatorcontrib><creatorcontrib>Shima, Yukio</creatorcontrib><collection>AGRIS</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 Central (Corporate)</collection><collection>Nursing & Allied Health Database</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>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health 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>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>eLibrary</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Agricultural Science Database</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Healthcare Administration Database</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</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 Basic</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Diabetes care</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nakanishi, Koji</au><au>Shima, Yukio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Capture of Type 1 Diabetes-Susceptible HLA DR-DQ Haplotypes in Japanese Subjects Using a Tag Single Nucleotide Polymorphism</atitle><jtitle>Diabetes care</jtitle><addtitle>Diabetes Care</addtitle><date>2010-01-01</date><risdate>2010</risdate><volume>33</volume><issue>1</issue><spage>162</spage><epage>164</epage><pages>162-164</pages><issn>0149-5992</issn><eissn>1935-5548</eissn><coden>DICAD2</coden><abstract>OBJECTIVE: To identify type 1 diabetes-susceptible HLA DR-DQ haplotypes using tag single nucleotide polymorphisms (SNPs) and to estimate the disease risk using these tag SNPs. RESEARCH DESIGN AND METHODS: Five tag SNPs were typed in a total of 211 Japanese subjects including 201 patients with type 1 diabetes who had already been typed for HLA-DRB1, -DQA1, and -DQB1 alleles and 300 control subjects. RESULTS: Tag SNP rs2395185 captured haplotypes involving all DR4 specificities and DR9 specificity with a sensitivity of 98.5% and specificity of 94.9%. Using the T allele of rs2395185, we obtained an odds ratio (95% CI) of 2.87 (2.21-3.74) for type 1 diabetes. In addition, rs3129888 captured haplotypes involving HLA-DRB1*0802 with a sensitivity of 92.3% and specificity of 98.9%. CONCLUSIONS: Typing of two tag SNPs (rs2395185 and rs3129888) may be useful for the screening of Japanese subjects at genetic risk of type 1 diabetes.</abstract><cop>Alexandria, VA</cop><pub>American Diabetes Association</pub><pmid>19837788</pmid><doi>10.2337/dc09-1210</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Diabetes care, 2010-01, Vol.33 (1), p.162-164 |
| issn | 0149-5992 1935-5548 |
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| subjects | Adult Asian Continental Ancestry Group - genetics Biological and medical sciences Diabetes Diabetes Mellitus, Type 1 - genetics Diabetes. Impaired glucose tolerance Diabetics Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Genetic aspects Genetic Predisposition to Disease - genetics Genotype Genotype & phenotype Haplotypes HLA-DQ alpha-Chains HLA-DQ Antigens - genetics HLA-DQ beta-Chains HLA-DR Antigens - genetics HLA-DRB1 Chains Human subjects Humans Male Medical research Medical sciences Medicine, Experimental Metabolic diseases Middle Aged Miscellaneous Original Research Polymorphism, Single Nucleotide - genetics Polymorphism, Single Nucleotide - physiology Public health. Hygiene Public health. Hygiene-occupational medicine Type 1 diabetes Young Adult |
| title | Capture of Type 1 Diabetes-Susceptible HLA DR-DQ Haplotypes in Japanese Subjects Using a Tag Single Nucleotide Polymorphism |
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