Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects
The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A→C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, fath...
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| Veröffentlicht in: | Journal of human genetics 2003-01, Vol.48 (4), p.190-193 |
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| container_title | Journal of human genetics |
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| creator | Parle-McDermott, Anne Mills, James L. Kirke, Peadar N. O'Leary, Valerie B. Swanson, Deborah A. Pangilinan, Faith Conley, Mary Molloy, Anne M. Cox, Christopher Scott, John M. Brody, Lawrence C. |
| description | The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A→C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A→C. Our findings do not support a role for the 1298A→C polymorphism in NTDs (OR 0.85 (95% CI 0.49–1.47),
p
= 0.55), nor do we observe a combined effect with the 677C→T polymorphism. |
| doi_str_mv | 10.1007/s10038-003-0008-4 |
| format | Article |
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p
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p
= 0.55), nor do we observe a combined effect with the 677C→T polymorphism.</description><subject>Biomedicine</subject><subject>Case-Control Studies</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene Frequency</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Ireland - epidemiology</subject><subject>Male</subject><subject>Methylenetetrahydrofolate reductase</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</subject><subject>Molecular Medicine</subject><subject>Neural tube defects</subject><subject>Neural Tube Defects - epidemiology</subject><subject>Neural Tube Defects - genetics</subject><subject>Original Article</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Risk factors</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kM9q3DAQxkVoyG6TPEAvRVDozYn-2bKPy5I0hYRA2EBuQpZHXW9ta6uxD_sCfYA8Yp6kSnYhUMhBnzTMbz4NHyFfOLvgjOlLTCrLLEk6rMzUEZlzJfNMSPH06e2tspwXfEY-I24SI4UWJ2TGhZZMCzEn9WKw3Q5bpMHTcQ30bnVz_UC5qMrFy9_nJbVDQwutl6lY0W3odn2I23WLPVKLNLb4m3rrxhCR-hDpAFO0HR2nGmgDHtyIZ-TY2w7h_HCfksfrq9XyJru9__FzubjNXFp5zKqqKsA5xpTSZZWWqz0voeTaaiYrYDJhRV57EE4q3QioHcvLxnPwOSjm5Cn5vvfdxvBnAhxN36KDrrMDhAmNliLnpS4S-O0_cBOmmHJAI5TIC64E44nie8rFgBjBm21sext3hjPzGr_Zx2-SmNf4jUozXw_OU91D8z5xyDsBYg9gag2_IL5__bHrP8CvjrQ</recordid><startdate>20030101</startdate><enddate>20030101</enddate><creator>Parle-McDermott, Anne</creator><creator>Mills, James L.</creator><creator>Kirke, Peadar N.</creator><creator>O'Leary, Valerie B.</creator><creator>Swanson, Deborah A.</creator><creator>Pangilinan, Faith</creator><creator>Conley, Mary</creator><creator>Molloy, Anne M.</creator><creator>Cox, Christopher</creator><creator>Scott, John M.</creator><creator>Brody, Lawrence C.</creator><general>Springer Japan</general><general>Nature Publishing Group</general><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20030101</creationdate><title>Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects</title><author>Parle-McDermott, Anne ; Mills, James L. ; Kirke, Peadar N. ; O'Leary, Valerie B. ; Swanson, Deborah A. ; Pangilinan, Faith ; Conley, Mary ; Molloy, Anne M. ; Cox, Christopher ; Scott, John M. ; Brody, Lawrence C.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c435t-9996ecc0044789722bf18e817a7039e03c4365bfe2c347d2ebc058df1ef5e40c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Biomedicine</topic><topic>Case-Control Studies</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Gene Frequency</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Ireland - 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Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Parle-McDermott, Anne</au><au>Mills, James L.</au><au>Kirke, Peadar N.</au><au>O'Leary, Valerie B.</au><au>Swanson, Deborah A.</au><au>Pangilinan, Faith</au><au>Conley, Mary</au><au>Molloy, Anne M.</au><au>Cox, Christopher</au><au>Scott, John M.</au><au>Brody, Lawrence C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2003-01-01</date><risdate>2003</risdate><volume>48</volume><issue>4</issue><spage>190</spage><epage>193</epage><pages>190-193</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A→C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A→C. Our findings do not support a role for the 1298A→C polymorphism in NTDs (OR 0.85 (95% CI 0.49–1.47),
p
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| subjects | Biomedicine Case-Control Studies DNA Mutational Analysis Female Gene Expression Gene Frequency Gene Function Gene Therapy Genetic Predisposition to Disease Genotype Human Genetics Humans Ireland - epidemiology Male Methylenetetrahydrofolate reductase Methylenetetrahydrofolate Reductase (NADPH2) - genetics Molecular Medicine Neural tube defects Neural Tube Defects - epidemiology Neural Tube Defects - genetics Original Article Polymorphism Polymorphism, Genetic - genetics Risk factors |
| title | Analysis of the MTHFR 1298A→C and 677C→T polymorphisms as risk factors for neural tube defects |
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