Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus
Although association of insulin-dependent diabetes mellitus with a haplotype at a locus encompassing the genes for insulin and the insulin-like growth factor II has been well established, two major studies disagree as to whether linkage to this locus is confined to paternally inherited alleles, or i...
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| Veröffentlicht in: | Diabetologia 1995-06, Vol.38 (6), p.715-719 |
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| container_title | Diabetologia |
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| creator | POLYCHONAKOS, C KUKUVITIS, A GIANNOUKAKIS, N COLLE, E |
| description | Although association of insulin-dependent diabetes mellitus with a haplotype at a locus encompassing the genes for insulin and the insulin-like growth factor II has been well established, two major studies disagree as to whether linkage to this locus is confined to paternally inherited alleles, or is present in alleles transmitted from either parental sex. Towards resolving this discrepancy, we examined parent-of-origin specific association rather than linkage, using the haplotype relative risk method in a mixed Caucasian population. We find that the haplotype relative risk (HRR) conferred by paternal chromosomes was much higher (5.1, p < 0.01) than the corresponding maternal value (2.3, p = 0.07), which narrowly failed to reach statistical significance. Thus, although we cannot exclude an effect of the maternal allele, such an effect appears to be considerably weaker. We review evidence that parental imprinting is genotype-dependent, which may explain the different degrees to which the paternal effect is seen in different populations. |
| doi_str_mv | 10.1007/bf00401845 |
| format | Article |
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Towards resolving this discrepancy, we examined parent-of-origin specific association rather than linkage, using the haplotype relative risk method in a mixed Caucasian population. We find that the haplotype relative risk (HRR) conferred by paternal chromosomes was much higher (5.1, p < 0.01) than the corresponding maternal value (2.3, p = 0.07), which narrowly failed to reach statistical significance. Thus, although we cannot exclude an effect of the maternal allele, such an effect appears to be considerably weaker. We review evidence that parental imprinting is genotype-dependent, which may explain the different degrees to which the paternal effect is seen in different populations.</description><identifier>ISSN: 0012-186X</identifier><identifier>EISSN: 1432-0428</identifier><identifier>DOI: 10.1007/bf00401845</identifier><identifier>PMID: 7672495</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Adult ; Alleles ; Biological and medical sciences ; Child ; Chromosome Mapping ; Chromosomes, Human, Pair 11 ; Diabetes Mellitus, Type 1 - genetics ; Diabetes. Impaired glucose tolerance ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Etiopathogenesis. Screening. Investigations. Target tissue resistance ; Female ; Genetic Linkage ; Genetic Markers ; Genetic Predisposition to Disease ; Genomic Imprinting ; Genotype ; Haplotypes ; Heterozygote ; Humans ; Insulin - genetics ; Insulin-Like Growth Factor II - genetics ; Male ; Medical sciences ; Odds Ratio ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length</subject><ispartof>Diabetologia, 1995-06, Vol.38 (6), p.715-719</ispartof><rights>1995 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3285-6ce385661d79063f959fabfa6a308e7cae4f9bf80050e5e7698c8066422a7b233</citedby><cites>FETCH-LOGICAL-c3285-6ce385661d79063f959fabfa6a308e7cae4f9bf80050e5e7698c8066422a7b233</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3516580$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7672495$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>POLYCHONAKOS, C</creatorcontrib><creatorcontrib>KUKUVITIS, A</creatorcontrib><creatorcontrib>GIANNOUKAKIS, N</creatorcontrib><creatorcontrib>COLLE, E</creatorcontrib><title>Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus</title><title>Diabetologia</title><addtitle>Diabetologia</addtitle><description>Although association of insulin-dependent diabetes mellitus with a haplotype at a locus encompassing the genes for insulin and the insulin-like growth factor II has been well established, two major studies disagree as to whether linkage to this locus is confined to paternally inherited alleles, or is present in alleles transmitted from either parental sex. Towards resolving this discrepancy, we examined parent-of-origin specific association rather than linkage, using the haplotype relative risk method in a mixed Caucasian population. We find that the haplotype relative risk (HRR) conferred by paternal chromosomes was much higher (5.1, p < 0.01) than the corresponding maternal value (2.3, p = 0.07), which narrowly failed to reach statistical significance. Thus, although we cannot exclude an effect of the maternal allele, such an effect appears to be considerably weaker. We review evidence that parental imprinting is genotype-dependent, which may explain the different degrees to which the paternal effect is seen in different populations.</description><subject>Adult</subject><subject>Alleles</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 11</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>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>Genetic Predisposition to Disease</subject><subject>Genomic Imprinting</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Insulin - genetics</subject><subject>Insulin-Like Growth Factor II - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Odds Ratio</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><issn>0012-186X</issn><issn>1432-0428</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kE1Lw0AURQdRaq1u3AtZiAsh-mYm85GlFlsLRQUV3IXJ9I2OJGnNTBb990Yau3qLe7jcdwg5p3BDAdRt6QAyoDoTB2RMM85SyJg-JGMAylKq5ccxOQnhGwC4yOSIjJRULMvFmDy-mBabaKrE15vWN9E3nwk6hzYmJibxC5PF02u6mM9YsvKmxIghCV2wuIm-9JWP26Ra2y6ckiNnqoBnw52Q99nD2_QxXT7PF9O7ZWo50yKVFrkWUtKVykFyl4vcmdIZaThoVNZg5vLSaQABKFDJXFsNUmaMGVUyzifkate7adc_HYZY1L5fU1WmwXUXCqUEzRnLe_B6B9p2HUKLruj_q027LSgUf9qK-9m_th6-GFq7ssbVHh089fnlkJtgTeVa01gf9hgXVAoN_BfFnXKx</recordid><startdate>199506</startdate><enddate>199506</enddate><creator>POLYCHONAKOS, C</creator><creator>KUKUVITIS, A</creator><creator>GIANNOUKAKIS, N</creator><creator>COLLE, E</creator><general>Springer</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>199506</creationdate><title>Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus</title><author>POLYCHONAKOS, C ; KUKUVITIS, A ; GIANNOUKAKIS, N ; COLLE, E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3285-6ce385661d79063f959fabfa6a308e7cae4f9bf80050e5e7698c8066422a7b233</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 11</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>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>Genetic Predisposition to Disease</topic><topic>Genomic Imprinting</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Insulin - genetics</topic><topic>Insulin-Like Growth Factor II - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Odds Ratio</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Restriction Fragment Length</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>POLYCHONAKOS, C</creatorcontrib><creatorcontrib>KUKUVITIS, A</creatorcontrib><creatorcontrib>GIANNOUKAKIS, N</creatorcontrib><creatorcontrib>COLLE, E</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>Diabetologia</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>POLYCHONAKOS, C</au><au>KUKUVITIS, A</au><au>GIANNOUKAKIS, N</au><au>COLLE, E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus</atitle><jtitle>Diabetologia</jtitle><addtitle>Diabetologia</addtitle><date>1995-06</date><risdate>1995</risdate><volume>38</volume><issue>6</issue><spage>715</spage><epage>719</epage><pages>715-719</pages><issn>0012-186X</issn><eissn>1432-0428</eissn><abstract>Although association of insulin-dependent diabetes mellitus with a haplotype at a locus encompassing the genes for insulin and the insulin-like growth factor II has been well established, two major studies disagree as to whether linkage to this locus is confined to paternally inherited alleles, or is present in alleles transmitted from either parental sex. Towards resolving this discrepancy, we examined parent-of-origin specific association rather than linkage, using the haplotype relative risk method in a mixed Caucasian population. We find that the haplotype relative risk (HRR) conferred by paternal chromosomes was much higher (5.1, p < 0.01) than the corresponding maternal value (2.3, p = 0.07), which narrowly failed to reach statistical significance. Thus, although we cannot exclude an effect of the maternal allele, such an effect appears to be considerably weaker. We review evidence that parental imprinting is genotype-dependent, which may explain the different degrees to which the paternal effect is seen in different populations.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>7672495</pmid><doi>10.1007/bf00401845</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Diabetologia, 1995-06, Vol.38 (6), p.715-719 |
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| language | eng |
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| source | MEDLINE; SpringerNature Journals |
| subjects | Adult Alleles Biological and medical sciences Child Chromosome Mapping Chromosomes, Human, Pair 11 Diabetes Mellitus, Type 1 - genetics Diabetes. Impaired glucose tolerance Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Genetic Linkage Genetic Markers Genetic Predisposition to Disease Genomic Imprinting Genotype Haplotypes Heterozygote Humans Insulin - genetics Insulin-Like Growth Factor II - genetics Male Medical sciences Odds Ratio Polymerase Chain Reaction Polymorphism, Restriction Fragment Length |
| title | Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus |
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