Androgen receptor gene exon 1 CAG repeat polymorphism in Finnish patients with childhood-onset type 1 diabetes
Animal models suggest that androgen receptor gene polymorphisms might affect disease predisposition in human immune-mediated diabetes. The aim of this study was to investigate the effect of the human androgen receptor gene exon 1 CAG repeat polymorphisms on type 1 diabetes (T1D) susceptibility. A co...
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| Veröffentlicht in: | European journal of endocrinology 2003-12, Vol.149 (6), p.597-600 |
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| container_title | European journal of endocrinology |
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| creator | GOMBOS, Zsofia HERMANN, Robert VEIJOLA, Riitta KNIP, Mikael SIMELL, Olli POLLANEN, Pasi ILONEN, Jorma |
| description | Animal models suggest that androgen receptor gene polymorphisms might affect disease predisposition in human immune-mediated diabetes. The aim of this study was to investigate the effect of the human androgen receptor gene exon 1 CAG repeat polymorphisms on type 1 diabetes (T1D) susceptibility.
A combined strategy of case-control and family-based approaches was used. Affected sibling pair families (n=120), nuclear families (n=645) and cohorts of sporadic cases (n=208) and controls (n=1381) were genotyped for androgen receptor gene exon 1 CAG repeat polymorphism. An automated fluorescence-based DNA fragment-sizing method was used.
The distribution of CAG repeat alleles did not differ significantly between patients and controls. However, short repeat alleles (7-14) were more prevalent among cases in girls compared with controls (8.77% vs 5.91%; P=0.03). Long repeat alleles (19-28) were less frequent among HLA DR3-positive diseased boys than in DR3-positive control boys (32.6% vs 40.6%; P=0.011). The differences were not significant after adjustment for multiple comparisons. Transmission of CAG repeat alleles was not different from expected in the total material. However, transmissions to girls deviated from the expected value significantly (extended transmission disequilibrium test (ETDT) 37.82; P=0.0016). A decreased transmission of the alleles with 13, 20 and 26 repeats to girls was observed (T%0, P=0.046; T%25.5, P=0.0003, T%0, P=0.025).
The results do not support a common role for the androgen receptor gene exon 1 CAG repeat in T1D susceptibility; however, an effect of a disease variant in linkage disequilibrium could be detected. |
| doi_str_mv | 10.1530/eje.0.1490597 |
| format | Article |
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A combined strategy of case-control and family-based approaches was used. Affected sibling pair families (n=120), nuclear families (n=645) and cohorts of sporadic cases (n=208) and controls (n=1381) were genotyped for androgen receptor gene exon 1 CAG repeat polymorphism. An automated fluorescence-based DNA fragment-sizing method was used.
The distribution of CAG repeat alleles did not differ significantly between patients and controls. However, short repeat alleles (7-14) were more prevalent among cases in girls compared with controls (8.77% vs 5.91%; P=0.03). Long repeat alleles (19-28) were less frequent among HLA DR3-positive diseased boys than in DR3-positive control boys (32.6% vs 40.6%; P=0.011). The differences were not significant after adjustment for multiple comparisons. Transmission of CAG repeat alleles was not different from expected in the total material. However, transmissions to girls deviated from the expected value significantly (extended transmission disequilibrium test (ETDT) 37.82; P=0.0016). A decreased transmission of the alleles with 13, 20 and 26 repeats to girls was observed (T%0, P=0.046; T%25.5, P=0.0003, T%0, P=0.025).
The results do not support a common role for the androgen receptor gene exon 1 CAG repeat in T1D susceptibility; however, an effect of a disease variant in linkage disequilibrium could be detected.</description><identifier>ISSN: 0804-4643</identifier><identifier>EISSN: 1479-683X</identifier><identifier>DOI: 10.1530/eje.0.1490597</identifier><identifier>PMID: 14641003</identifier><language>eng</language><publisher>Colchester: Portland Press</publisher><subject>Adolescent ; Adult ; Biological and medical sciences ; Case-Control Studies ; Child ; Cohort Studies ; Diabetes Mellitus, Type 1 - epidemiology ; Diabetes Mellitus, Type 1 - genetics ; Diabetes. Impaired glucose tolerance ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Etiopathogenesis. Screening. Investigations. Target tissue resistance ; Female ; Finland - epidemiology ; Fundamental and applied biological sciences. Psychology ; Genetic Predisposition to Disease ; HLA-DR3 Antigen - genetics ; Humans ; Linkage Disequilibrium - genetics ; Male ; Medical sciences ; Middle Aged ; Pedigree ; Polymorphism, Genetic ; Receptors, Androgen - genetics ; Sex Characteristics ; Trinucleotide Repeats - genetics ; Vertebrates: endocrinology</subject><ispartof>European journal of endocrinology, 2003-12, Vol.149 (6), p.597-600</ispartof><rights>2004 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-1dd902aa3bc64869ca694173c9c1bf10ea2318084a7461777122e5ffcfd0e93b3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15368979$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14641003$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>GOMBOS, Zsofia</creatorcontrib><creatorcontrib>HERMANN, Robert</creatorcontrib><creatorcontrib>VEIJOLA, Riitta</creatorcontrib><creatorcontrib>KNIP, Mikael</creatorcontrib><creatorcontrib>SIMELL, Olli</creatorcontrib><creatorcontrib>POLLANEN, Pasi</creatorcontrib><creatorcontrib>ILONEN, Jorma</creatorcontrib><title>Androgen receptor gene exon 1 CAG repeat polymorphism in Finnish patients with childhood-onset type 1 diabetes</title><title>European journal of endocrinology</title><addtitle>Eur J Endocrinol</addtitle><description>Animal models suggest that androgen receptor gene polymorphisms might affect disease predisposition in human immune-mediated diabetes. The aim of this study was to investigate the effect of the human androgen receptor gene exon 1 CAG repeat polymorphisms on type 1 diabetes (T1D) susceptibility.
A combined strategy of case-control and family-based approaches was used. Affected sibling pair families (n=120), nuclear families (n=645) and cohorts of sporadic cases (n=208) and controls (n=1381) were genotyped for androgen receptor gene exon 1 CAG repeat polymorphism. An automated fluorescence-based DNA fragment-sizing method was used.
The distribution of CAG repeat alleles did not differ significantly between patients and controls. However, short repeat alleles (7-14) were more prevalent among cases in girls compared with controls (8.77% vs 5.91%; P=0.03). Long repeat alleles (19-28) were less frequent among HLA DR3-positive diseased boys than in DR3-positive control boys (32.6% vs 40.6%; P=0.011). The differences were not significant after adjustment for multiple comparisons. Transmission of CAG repeat alleles was not different from expected in the total material. However, transmissions to girls deviated from the expected value significantly (extended transmission disequilibrium test (ETDT) 37.82; P=0.0016). A decreased transmission of the alleles with 13, 20 and 26 repeats to girls was observed (T%0, P=0.046; T%25.5, P=0.0003, T%0, P=0.025).
The results do not support a common role for the androgen receptor gene exon 1 CAG repeat in T1D susceptibility; however, an effect of a disease variant in linkage disequilibrium could be detected.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Child</subject><subject>Cohort Studies</subject><subject>Diabetes Mellitus, Type 1 - epidemiology</subject><subject>Diabetes Mellitus, Type 1 - genetics</subject><subject>Diabetes. Impaired glucose tolerance</subject><subject>Endocrine pancreas. Apud cells (diseases)</subject><subject>Endocrinopathies</subject><subject>Etiopathogenesis. Screening. Investigations. Target tissue resistance</subject><subject>Female</subject><subject>Finland - epidemiology</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Predisposition to Disease</subject><subject>HLA-DR3 Antigen - genetics</subject><subject>Humans</subject><subject>Linkage Disequilibrium - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Polymorphism, Genetic</subject><subject>Receptors, Androgen - genetics</subject><subject>Sex Characteristics</subject><subject>Trinucleotide Repeats - genetics</subject><subject>Vertebrates: endocrinology</subject><issn>0804-4643</issn><issn>1479-683X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkDFv2zAQRokiQeM4HbsWXNJNLk-kRXE0jNgNYKBLA2QTKOpU0ZBIlaTR-t-XhQ14uu_uHr7hEfIZ2ArWnH3DI65yFIqtlfxAFiCkKqqav9-RBauZKEQl-AN5jPHIGOTMPpIHyEdgjC-I27gu-F_oaECDc_KB5gUp_vWOAt1u9vkxo0509uN58mEebJyodXRnnbNxoLNOFl2K9I9NAzWDHbvB-67wLmKi6Txj7umsbjFhfCL3vR4jfrrOJXnbvfzcfi8OP_av282hMLyWqYCuU6zUmremEnWljK6UAMmNMtD2wFCXHGpWCy1FBVJKKEtc973pO4aKt3xJvl565-B_nzCmZrLR4Dhqh_4UGwkCSl6KDBYX0AQfY8C-mYOddDg3wJr_gpssuMnxIjjzX67Fp3bC7kZfjWbg-QroaPTYB-2MjTduzataScX_AcvFg_w</recordid><startdate>20031201</startdate><enddate>20031201</enddate><creator>GOMBOS, Zsofia</creator><creator>HERMANN, Robert</creator><creator>VEIJOLA, Riitta</creator><creator>KNIP, Mikael</creator><creator>SIMELL, Olli</creator><creator>POLLANEN, Pasi</creator><creator>ILONEN, Jorma</creator><general>Portland Press</general><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>20031201</creationdate><title>Androgen receptor gene exon 1 CAG repeat polymorphism in Finnish patients with childhood-onset type 1 diabetes</title><author>GOMBOS, Zsofia ; HERMANN, Robert ; VEIJOLA, Riitta ; KNIP, Mikael ; SIMELL, Olli ; POLLANEN, Pasi ; ILONEN, Jorma</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-1dd902aa3bc64869ca694173c9c1bf10ea2318084a7461777122e5ffcfd0e93b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Child</topic><topic>Cohort Studies</topic><topic>Diabetes Mellitus, Type 1 - epidemiology</topic><topic>Diabetes Mellitus, Type 1 - genetics</topic><topic>Diabetes. Impaired glucose tolerance</topic><topic>Endocrine pancreas. Apud cells (diseases)</topic><topic>Endocrinopathies</topic><topic>Etiopathogenesis. Screening. Investigations. Target tissue resistance</topic><topic>Female</topic><topic>Finland - epidemiology</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Predisposition to Disease</topic><topic>HLA-DR3 Antigen - genetics</topic><topic>Humans</topic><topic>Linkage Disequilibrium - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Polymorphism, Genetic</topic><topic>Receptors, Androgen - genetics</topic><topic>Sex Characteristics</topic><topic>Trinucleotide Repeats - genetics</topic><topic>Vertebrates: endocrinology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>GOMBOS, Zsofia</creatorcontrib><creatorcontrib>HERMANN, Robert</creatorcontrib><creatorcontrib>VEIJOLA, Riitta</creatorcontrib><creatorcontrib>KNIP, Mikael</creatorcontrib><creatorcontrib>SIMELL, Olli</creatorcontrib><creatorcontrib>POLLANEN, Pasi</creatorcontrib><creatorcontrib>ILONEN, Jorma</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>European journal of endocrinology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>GOMBOS, Zsofia</au><au>HERMANN, Robert</au><au>VEIJOLA, Riitta</au><au>KNIP, Mikael</au><au>SIMELL, Olli</au><au>POLLANEN, Pasi</au><au>ILONEN, Jorma</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Androgen receptor gene exon 1 CAG repeat polymorphism in Finnish patients with childhood-onset type 1 diabetes</atitle><jtitle>European journal of endocrinology</jtitle><addtitle>Eur J Endocrinol</addtitle><date>2003-12-01</date><risdate>2003</risdate><volume>149</volume><issue>6</issue><spage>597</spage><epage>600</epage><pages>597-600</pages><issn>0804-4643</issn><eissn>1479-683X</eissn><abstract>Animal models suggest that androgen receptor gene polymorphisms might affect disease predisposition in human immune-mediated diabetes. The aim of this study was to investigate the effect of the human androgen receptor gene exon 1 CAG repeat polymorphisms on type 1 diabetes (T1D) susceptibility.
A combined strategy of case-control and family-based approaches was used. Affected sibling pair families (n=120), nuclear families (n=645) and cohorts of sporadic cases (n=208) and controls (n=1381) were genotyped for androgen receptor gene exon 1 CAG repeat polymorphism. An automated fluorescence-based DNA fragment-sizing method was used.
The distribution of CAG repeat alleles did not differ significantly between patients and controls. However, short repeat alleles (7-14) were more prevalent among cases in girls compared with controls (8.77% vs 5.91%; P=0.03). Long repeat alleles (19-28) were less frequent among HLA DR3-positive diseased boys than in DR3-positive control boys (32.6% vs 40.6%; P=0.011). The differences were not significant after adjustment for multiple comparisons. Transmission of CAG repeat alleles was not different from expected in the total material. However, transmissions to girls deviated from the expected value significantly (extended transmission disequilibrium test (ETDT) 37.82; P=0.0016). A decreased transmission of the alleles with 13, 20 and 26 repeats to girls was observed (T%0, P=0.046; T%25.5, P=0.0003, T%0, P=0.025).
The results do not support a common role for the androgen receptor gene exon 1 CAG repeat in T1D susceptibility; however, an effect of a disease variant in linkage disequilibrium could be detected.</abstract><cop>Colchester</cop><pub>Portland Press</pub><pmid>14641003</pmid><doi>10.1530/eje.0.1490597</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | European journal of endocrinology, 2003-12, Vol.149 (6), p.597-600 |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE |
| subjects | Adolescent Adult Biological and medical sciences Case-Control Studies Child Cohort Studies Diabetes Mellitus, Type 1 - epidemiology Diabetes Mellitus, Type 1 - genetics Diabetes. Impaired glucose tolerance Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Finland - epidemiology Fundamental and applied biological sciences. Psychology Genetic Predisposition to Disease HLA-DR3 Antigen - genetics Humans Linkage Disequilibrium - genetics Male Medical sciences Middle Aged Pedigree Polymorphism, Genetic Receptors, Androgen - genetics Sex Characteristics Trinucleotide Repeats - genetics Vertebrates: endocrinology |
| title | Androgen receptor gene exon 1 CAG repeat polymorphism in Finnish patients with childhood-onset type 1 diabetes |
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