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Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses
Previous studies have identified a susceptibility region for insulin-dependent (type 1) diabetes mellitus on chromosome 11q13 (IDDM4). In this study, 15 polymorphic markers were analyzed for 382 affected sibpair (ASP) families with type 1 diabetes. Our analyses provided additional evidence for linka...
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| Published in: | Human genetics 2000-01, Vol.106 (1), p.14-18 |
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| container_end_page | 18 |
| container_issue | 1 |
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| container_title | Human genetics |
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| creator | ECKENRODE, S MARRON, M. P NICHOLLS, R YANG, M. C. K YANG, J. J GUIDAFONSECA, L. C SHE, J.-X |
| description | Previous studies have identified a susceptibility region for insulin-dependent (type 1) diabetes mellitus on chromosome 11q13 (IDDM4). In this study, 15 polymorphic markers were analyzed for 382 affected sibpair (ASP) families with type 1 diabetes. Our analyses provided additional evidence for linkage for IDDM4 (a peak LOD score of 3.4 at D11S913). The markers with strong linkage evidence are located within an interval of approximately 6 cM between D11S4205 and GALN. We also identified polymorphisms in two candidate genes, Fas-associated death domain protein (FADD) and galanin (GALN). Analyses of the data by transmission/disequilibrium test (TDT) and extended TDT (ETDT) did not provide any evidence for association/linkage with these candidate genes. However, ETDT did reveal significant association/linkage with the marker D11S987 (P=0.0004) within the IDDM4 interval defined by ASP analyses, suggesting that IDDM4 may be in the close proximity of D11S987. |
| doi_str_mv | 10.1007/s004399900186 |
| format | article |
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P ; NICHOLLS, R ; YANG, M. C. K ; YANG, J. J ; GUIDAFONSECA, L. C ; SHE, J.-X</creator><creatorcontrib>ECKENRODE, S ; MARRON, M. P ; NICHOLLS, R ; YANG, M. C. K ; YANG, J. J ; GUIDAFONSECA, L. C ; SHE, J.-X</creatorcontrib><description>Previous studies have identified a susceptibility region for insulin-dependent (type 1) diabetes mellitus on chromosome 11q13 (IDDM4). In this study, 15 polymorphic markers were analyzed for 382 affected sibpair (ASP) families with type 1 diabetes. Our analyses provided additional evidence for linkage for IDDM4 (a peak LOD score of 3.4 at D11S913). The markers with strong linkage evidence are located within an interval of approximately 6 cM between D11S4205 and GALN. We also identified polymorphisms in two candidate genes, Fas-associated death domain protein (FADD) and galanin (GALN). Analyses of the data by transmission/disequilibrium test (TDT) and extended TDT (ETDT) did not provide any evidence for association/linkage with these candidate genes. 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We also identified polymorphisms in two candidate genes, Fas-associated death domain protein (FADD) and galanin (GALN). Analyses of the data by transmission/disequilibrium test (TDT) and extended TDT (ETDT) did not provide any evidence for association/linkage with these candidate genes. However, ETDT did reveal significant association/linkage with the marker D11S987 (P=0.0004) within the IDDM4 interval defined by ASP analyses, suggesting that IDDM4 may be in the close proximity of D11S987.</description><subject>Bacterial Proteins - genetics</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 11</subject><subject>Coenzyme A Ligases - genetics</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>Diabetes. Impaired glucose tolerance</subject><subject>DNA Mutational Analysis</subject><subject>Endocrine pancreas. Apud cells (diseases)</subject><subject>Endocrinopathies</subject><subject>Escherichia coli Proteins</subject><subject>Etiopathogenesis. Screening. Investigations. Target tissue resistance</subject><subject>Family Health</subject><subject>Galanin - genetics</subject><subject>Genetic Markers</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Humans</subject><subject>Linkage Disequilibrium</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Single-Stranded Conformational</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNpV0UFv1DAQBWALUdGl5cgV-YCq9hDwxEkcH1ddtlRa4FLO0cQZbw1JnLUT0P4s_iHZ7kqU00jzPr3LY-wtiA8ghPoYhcik1loIKIsXbAGZTBNIhXzJFkJmIikUqHP2OsYfM8l1mr9i5yB0mYIqFuzP2vWUdDgMrt9yb_n4SHzcD8SBNw5rGiny1psp8uv71epLdsN9z81j8J2PvpsZ7Dj2Dadf2E44ujk9tPz23Mxv1-BIfEv93HK9Xq5WT_Zuufl6w-s9R2vJjNTw6OoBXXhKW9f_xC0ljYu0m1zr6uCmbo6w3UeKl-zMYhvpzelesO_rTw-3n5PNt7v72-UmMRLKMcmVzUjnRSqUhpI0lcrk0uZgSy0aIIkIushVI6RpQKiCtDSZkCWiIbIgL9jVsXcIfjdRHKvORUNtiz35KVYqTbM0Lw4wOUITfIyBbDUE12HYVyCqw0bVfxvN_t2peKo7ap7p4ygzeH8CGA22NmBvXPznJKS5KORf9l-Ydg</recordid><startdate>20000101</startdate><enddate>20000101</enddate><creator>ECKENRODE, S</creator><creator>MARRON, M. 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Target tissue resistance</topic><topic>Family Health</topic><topic>Galanin - genetics</topic><topic>Genetic Markers</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Humans</topic><topic>Linkage Disequilibrium</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Single-Stranded Conformational</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>ECKENRODE, S</creatorcontrib><creatorcontrib>MARRON, M. P</creatorcontrib><creatorcontrib>NICHOLLS, R</creatorcontrib><creatorcontrib>YANG, M. C. K</creatorcontrib><creatorcontrib>YANG, J. J</creatorcontrib><creatorcontrib>GUIDAFONSECA, L. 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C</au><au>SHE, J.-X</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>2000-01-01</date><risdate>2000</risdate><volume>106</volume><issue>1</issue><spage>14</spage><epage>18</epage><pages>14-18</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>Previous studies have identified a susceptibility region for insulin-dependent (type 1) diabetes mellitus on chromosome 11q13 (IDDM4). In this study, 15 polymorphic markers were analyzed for 382 affected sibpair (ASP) families with type 1 diabetes. Our analyses provided additional evidence for linkage for IDDM4 (a peak LOD score of 3.4 at D11S913). The markers with strong linkage evidence are located within an interval of approximately 6 cM between D11S4205 and GALN. We also identified polymorphisms in two candidate genes, Fas-associated death domain protein (FADD) and galanin (GALN). Analyses of the data by transmission/disequilibrium test (TDT) and extended TDT (ETDT) did not provide any evidence for association/linkage with these candidate genes. However, ETDT did reveal significant association/linkage with the marker D11S987 (P=0.0004) within the IDDM4 interval defined by ASP analyses, suggesting that IDDM4 may be in the close proximity of D11S987.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>10982176</pmid><doi>10.1007/s004399900186</doi><tpages>5</tpages></addata></record> |
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| source | Springer Nature:Jisc Collections:Springer Nature Read and Publish 2023-2025: Springer Reading List |
| subjects | Bacterial Proteins - genetics Biological and medical sciences Chromosome Mapping Chromosomes, Human, Pair 11 Coenzyme A Ligases - genetics Diabetes Mellitus, Type 1 - genetics Diabetes. Impaired glucose tolerance DNA Mutational Analysis Endocrine pancreas. Apud cells (diseases) Endocrinopathies Escherichia coli Proteins Etiopathogenesis. Screening. Investigations. Target tissue resistance Family Health Galanin - genetics Genetic Markers Genetic Predisposition to Disease Genotype Humans Linkage Disequilibrium Medical sciences Microsatellite Repeats Polymorphism, Genetic Polymorphism, Single-Stranded Conformational |
| title | Fine-mapping of the type 1 diabetes locus (IDDM4) on chromosome 11q and evaluation of two candidate genes (FADD and GALN) by affected sibpair and linkage-disequilibrium analyses |
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