Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population
Genetic predisposition to haemochromatosis may be an important aetiological factor in some cases of Type 2 diabetes. Our aim was therefore to test the hypothesis that the haemochromatosis gene mutations Cys282Tyr and His63Asp are more prevalent in Type 2 diabetic patients compared with the Canterbur...
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| Veröffentlicht in: | Diabetes research and clinical practice 1999-03, Vol.43 (3), p.199-203 |
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| creator | Florkowski, Chris M. George, Peter M. Willis, Jinny A. Stott, Marion K. Burt, Michael J. Upton, Jeff D. Nesbit, Jeff Walmsley, Trevor A. Scott, Russell S. |
| description | Genetic predisposition to haemochromatosis may be an important aetiological factor in some cases of Type 2 diabetes. Our aim was therefore to test the hypothesis that the haemochromatosis gene mutations Cys282Tyr and His63Asp are more prevalent in Type 2 diabetic patients compared with the Canterbury, New Zealand general population. We studied 230 consecutive patients referred to the Diabetes Services with age ≥30 years and considered to have Type 2 diabetes. DNA was extracted from whole blood and amplified by polymerase chain reaction prior to restriction fragment length polymorphism analysis. The frequency of the mutations was compared with that observed previously in 1064 subjects from the Canterbury general population by
χ
2 testing. Iron was measured by a colorimetric method, transferrin by rate nephelometry and ferritin by immunoassay. There were 2/230 (0.8%) Cys282Tyr homozygous subjects in the diabetic group compared with 5/1064 (0.5%) NS in the general population. Although there was a trend to lower incidence of Cys282Tyr heterozygosity in the diabetic group, there was no significant difference for any of the six genotype frequencies between the two groups. Haemochromatosis gene mutations Cys282Tyr and His63Asp are therefore not increased in Type 2 diabetics compared with the general population. Transferrin saturation was a sensitive marker (100%) of genetic haemochromatosis, although ferritin had low specificity (77.8%). Genetic susceptibility to haemochromatosis is not an important aetiological factor for diabetes, and targeted screening of diabetic patients for haemochromatosis is not indicated. |
| doi_str_mv | 10.1016/S0168-8227(98)00129-6 |
| format | Article |
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χ
2 testing. Iron was measured by a colorimetric method, transferrin by rate nephelometry and ferritin by immunoassay. There were 2/230 (0.8%) Cys282Tyr homozygous subjects in the diabetic group compared with 5/1064 (0.5%) NS in the general population. Although there was a trend to lower incidence of Cys282Tyr heterozygosity in the diabetic group, there was no significant difference for any of the six genotype frequencies between the two groups. Haemochromatosis gene mutations Cys282Tyr and His63Asp are therefore not increased in Type 2 diabetics compared with the general population. Transferrin saturation was a sensitive marker (100%) of genetic haemochromatosis, although ferritin had low specificity (77.8%). Genetic susceptibility to haemochromatosis is not an important aetiological factor for diabetes, and targeted screening of diabetic patients for haemochromatosis is not indicated.</description><identifier>ISSN: 0168-8227</identifier><identifier>EISSN: 1872-8227</identifier><identifier>DOI: 10.1016/S0168-8227(98)00129-6</identifier><identifier>PMID: 10369430</identifier><identifier>CODEN: DRCPE9</identifier><language>eng</language><publisher>Shannon: Elsevier Ireland Ltd</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; Colorimetry ; Diabetes Mellitus, Type 2 - genetics ; Diabetes. Impaired glucose tolerance ; DNA - chemistry ; DNA Primers - chemistry ; Endocrine pancreas. Apud cells (diseases) ; Endocrinopathies ; Etiopathogenesis. Screening. Investigations. Target tissue resistance ; Female ; Ferritins - blood ; Genotype ; Haemochromatosis gene ; Hemochromatosis - epidemiology ; Hemochromatosis - genetics ; Humans ; Immunoenzyme Techniques ; Iron - blood ; Iron - metabolism ; Iron Overload - genetics ; Male ; Medical sciences ; Middle Aged ; Mutation, Missense ; Nephelometry and Turbidimetry ; New Zealand - epidemiology ; Phlebotomy ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Transferrin - analysis ; Tropical medicine ; Type 2 diabetes mellitus</subject><ispartof>Diabetes research and clinical practice, 1999-03, Vol.43 (3), p.199-203</ispartof><rights>1999 Elsevier Science Ireland Ltd</rights><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c322t-355c3b6713864a7267bee14b81d217a51b2c8acbf856cdf0a5bd2c1f4294ed763</citedby><cites>FETCH-LOGICAL-c322t-355c3b6713864a7267bee14b81d217a51b2c8acbf856cdf0a5bd2c1f4294ed763</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0168822798001296$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1767556$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10369430$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Florkowski, Chris M.</creatorcontrib><creatorcontrib>George, Peter M.</creatorcontrib><creatorcontrib>Willis, Jinny A.</creatorcontrib><creatorcontrib>Stott, Marion K.</creatorcontrib><creatorcontrib>Burt, Michael J.</creatorcontrib><creatorcontrib>Upton, Jeff D.</creatorcontrib><creatorcontrib>Nesbit, Jeff</creatorcontrib><creatorcontrib>Walmsley, Trevor A.</creatorcontrib><creatorcontrib>Scott, Russell S.</creatorcontrib><title>Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population</title><title>Diabetes research and clinical practice</title><addtitle>Diabetes Res Clin Pract</addtitle><description>Genetic predisposition to haemochromatosis may be an important aetiological factor in some cases of Type 2 diabetes. Our aim was therefore to test the hypothesis that the haemochromatosis gene mutations Cys282Tyr and His63Asp are more prevalent in Type 2 diabetic patients compared with the Canterbury, New Zealand general population. We studied 230 consecutive patients referred to the Diabetes Services with age ≥30 years and considered to have Type 2 diabetes. DNA was extracted from whole blood and amplified by polymerase chain reaction prior to restriction fragment length polymorphism analysis. The frequency of the mutations was compared with that observed previously in 1064 subjects from the Canterbury general population by
χ
2 testing. Iron was measured by a colorimetric method, transferrin by rate nephelometry and ferritin by immunoassay. There were 2/230 (0.8%) Cys282Tyr homozygous subjects in the diabetic group compared with 5/1064 (0.5%) NS in the general population. Although there was a trend to lower incidence of Cys282Tyr heterozygosity in the diabetic group, there was no significant difference for any of the six genotype frequencies between the two groups. Haemochromatosis gene mutations Cys282Tyr and His63Asp are therefore not increased in Type 2 diabetics compared with the general population. Transferrin saturation was a sensitive marker (100%) of genetic haemochromatosis, although ferritin had low specificity (77.8%). Genetic susceptibility to haemochromatosis is not an important aetiological factor for diabetes, and targeted screening of diabetic patients for haemochromatosis is not indicated.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>Colorimetry</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>Diabetes. Impaired glucose tolerance</subject><subject>DNA - chemistry</subject><subject>DNA Primers - chemistry</subject><subject>Endocrine pancreas. Apud cells (diseases)</subject><subject>Endocrinopathies</subject><subject>Etiopathogenesis. Screening. Investigations. Target tissue resistance</subject><subject>Female</subject><subject>Ferritins - blood</subject><subject>Genotype</subject><subject>Haemochromatosis gene</subject><subject>Hemochromatosis - epidemiology</subject><subject>Hemochromatosis - genetics</subject><subject>Humans</subject><subject>Immunoenzyme Techniques</subject><subject>Iron - blood</subject><subject>Iron - metabolism</subject><subject>Iron Overload - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation, Missense</subject><subject>Nephelometry and Turbidimetry</subject><subject>New Zealand - epidemiology</subject><subject>Phlebotomy</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Transferrin - analysis</subject><subject>Tropical medicine</subject><subject>Type 2 diabetes mellitus</subject><issn>0168-8227</issn><issn>1872-8227</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUGP1CAYhonRuOPqT9BwMGb3UAXaAj1tNhN1TDZ6cLx4IRS-Opi2VKBu-nf8pTKdiXrzAoQ87_e--V6EnlPymhLK33zOhywkY-KqkdeEUNYU_AHaUCnY-v0Qbf4gF-hJjN8JIbys6sfogpKSN1VJNujXTsPgzSH4QScfXcTfYAQ8zEkn58eIt0tkku2XgPVo8c5FXt7GCesAePQJu9EE0BFsfuH9MgFm2DrdQnIGT3kGjCli44cpKyy-d-mA0wHwVo8JQjuHBV99hHv8FXSfDa5X-6B7PPlp7tcMT9GjTvcRnp3vS_Tl3dv9dlfcfXr_YXt7V5iSsVSUdW3KlgtaSl5pwbhoAWjVSmoZFbqmLTNSm7aTNTe2I7puLTO0q1hTgRW8vESvTnOn4H_MEJMaXDTQ51zg56h4I1mdxRmsT6AJPsYAnZqCG3RYFCXqWI5ay1HHzatGqrUcddS9OBvM7QD2H9WpjQy8PAM6Gt13QY_Gxb-c4KJe_W9OGORt_HQQVDR5zwasC2CSst79J8lvgIOtew</recordid><startdate>19990301</startdate><enddate>19990301</enddate><creator>Florkowski, Chris M.</creator><creator>George, Peter M.</creator><creator>Willis, Jinny A.</creator><creator>Stott, Marion K.</creator><creator>Burt, Michael J.</creator><creator>Upton, Jeff D.</creator><creator>Nesbit, Jeff</creator><creator>Walmsley, Trevor A.</creator><creator>Scott, Russell S.</creator><general>Elsevier Ireland Ltd</general><general>Elsevier Science</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>19990301</creationdate><title>Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population</title><author>Florkowski, Chris M. ; George, Peter M. ; Willis, Jinny A. ; Stott, Marion K. ; Burt, Michael J. ; Upton, Jeff D. ; Nesbit, Jeff ; Walmsley, Trevor A. ; Scott, Russell S.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c322t-355c3b6713864a7267bee14b81d217a51b2c8acbf856cdf0a5bd2c1f4294ed763</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>Colorimetry</topic><topic>Diabetes Mellitus, Type 2 - genetics</topic><topic>Diabetes. Impaired glucose tolerance</topic><topic>DNA - chemistry</topic><topic>DNA Primers - chemistry</topic><topic>Endocrine pancreas. Apud cells (diseases)</topic><topic>Endocrinopathies</topic><topic>Etiopathogenesis. Screening. Investigations. Target tissue resistance</topic><topic>Female</topic><topic>Ferritins - blood</topic><topic>Genotype</topic><topic>Haemochromatosis gene</topic><topic>Hemochromatosis - epidemiology</topic><topic>Hemochromatosis - genetics</topic><topic>Humans</topic><topic>Immunoenzyme Techniques</topic><topic>Iron - blood</topic><topic>Iron - metabolism</topic><topic>Iron Overload - genetics</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation, Missense</topic><topic>Nephelometry and Turbidimetry</topic><topic>New Zealand - epidemiology</topic><topic>Phlebotomy</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Transferrin - analysis</topic><topic>Tropical medicine</topic><topic>Type 2 diabetes mellitus</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Florkowski, Chris M.</creatorcontrib><creatorcontrib>George, Peter M.</creatorcontrib><creatorcontrib>Willis, Jinny A.</creatorcontrib><creatorcontrib>Stott, Marion K.</creatorcontrib><creatorcontrib>Burt, Michael J.</creatorcontrib><creatorcontrib>Upton, Jeff D.</creatorcontrib><creatorcontrib>Nesbit, Jeff</creatorcontrib><creatorcontrib>Walmsley, Trevor A.</creatorcontrib><creatorcontrib>Scott, Russell S.</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>Diabetes research and clinical practice</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Florkowski, Chris M.</au><au>George, Peter M.</au><au>Willis, Jinny A.</au><au>Stott, Marion K.</au><au>Burt, Michael J.</au><au>Upton, Jeff D.</au><au>Nesbit, Jeff</au><au>Walmsley, Trevor A.</au><au>Scott, Russell S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population</atitle><jtitle>Diabetes research and clinical practice</jtitle><addtitle>Diabetes Res Clin Pract</addtitle><date>1999-03-01</date><risdate>1999</risdate><volume>43</volume><issue>3</issue><spage>199</spage><epage>203</epage><pages>199-203</pages><issn>0168-8227</issn><eissn>1872-8227</eissn><coden>DRCPE9</coden><abstract>Genetic predisposition to haemochromatosis may be an important aetiological factor in some cases of Type 2 diabetes. Our aim was therefore to test the hypothesis that the haemochromatosis gene mutations Cys282Tyr and His63Asp are more prevalent in Type 2 diabetic patients compared with the Canterbury, New Zealand general population. We studied 230 consecutive patients referred to the Diabetes Services with age ≥30 years and considered to have Type 2 diabetes. DNA was extracted from whole blood and amplified by polymerase chain reaction prior to restriction fragment length polymorphism analysis. The frequency of the mutations was compared with that observed previously in 1064 subjects from the Canterbury general population by
χ
2 testing. Iron was measured by a colorimetric method, transferrin by rate nephelometry and ferritin by immunoassay. There were 2/230 (0.8%) Cys282Tyr homozygous subjects in the diabetic group compared with 5/1064 (0.5%) NS in the general population. Although there was a trend to lower incidence of Cys282Tyr heterozygosity in the diabetic group, there was no significant difference for any of the six genotype frequencies between the two groups. Haemochromatosis gene mutations Cys282Tyr and His63Asp are therefore not increased in Type 2 diabetics compared with the general population. Transferrin saturation was a sensitive marker (100%) of genetic haemochromatosis, although ferritin had low specificity (77.8%). Genetic susceptibility to haemochromatosis is not an important aetiological factor for diabetes, and targeted screening of diabetic patients for haemochromatosis is not indicated.</abstract><cop>Shannon</cop><pub>Elsevier Ireland Ltd</pub><pmid>10369430</pmid><doi>10.1016/S0168-8227(98)00129-6</doi><tpages>5</tpages></addata></record> |
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| ispartof | Diabetes research and clinical practice, 1999-03, Vol.43 (3), p.199-203 |
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| subjects | Adult Aged Aged, 80 and over Biological and medical sciences Colorimetry Diabetes Mellitus, Type 2 - genetics Diabetes. Impaired glucose tolerance DNA - chemistry DNA Primers - chemistry Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Ferritins - blood Genotype Haemochromatosis gene Hemochromatosis - epidemiology Hemochromatosis - genetics Humans Immunoenzyme Techniques Iron - blood Iron - metabolism Iron Overload - genetics Male Medical sciences Middle Aged Mutation, Missense Nephelometry and Turbidimetry New Zealand - epidemiology Phlebotomy Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Transferrin - analysis Tropical medicine Type 2 diabetes mellitus |
| title | Haemochromatosis gene mutations Cys282Tyr and His63Asp are not increased in Type 2 diabetic patients compared with the Canterbury (New Zealand) general population |
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