C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy
The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21, compared to control mothers. In order to confirm this association, we studied the presence of the C6...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2002-06, Vol.10 (6), p.388-390 |
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| container_title | European journal of human genetics : EJHG |
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| creator | Stuppia, Liborio Gatta, Valentina Gaspari, Anna Rita Antonucci, Ivana Morizio, Elisena Calabrese, Giuseppe Palka, Giandomenico |
| description | The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21, compared to control mothers. In order to confirm this association, we studied the presence of the C677T in 64 mothers of Down syndrome children and 112 controls from central Italy. An higher incidence of the mutant T allele in controls (48.2%) than in Down syndrome children mothers (44%) was detected. These results do not support the presence of an increased risk of Down syndrome in mothers carriers of the T allele in the Italian population. |
| doi_str_mv | 10.1038/sj.ejhg.5200819 |
| format | Article |
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In order to confirm this association, we studied the presence of the C677T in 64 mothers of Down syndrome children and 112 controls from central Italy. An higher incidence of the mutant T allele in controls (48.2%) than in Down syndrome children mothers (44%) was detected. These results do not support the presence of an increased risk of Down syndrome in mothers carriers of the T allele in the Italian population.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/sj.ejhg.5200819</identifier><identifier>PMID: 12080391</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Alleles ; Children ; Dihydrofolate reductase ; Down Syndrome - genetics ; Down's syndrome ; Female ; Gene Frequency ; Gene polymorphism ; Genotype & phenotype ; Humans ; Italy ; Methylenetetrahydrofolate reductase ; Methylenetetrahydrofolate Reductase (NADPH2) ; Mothers ; Mutation ; Mutation, Missense ; Oxidoreductases Acting on CH-NH Group Donors - genetics ; Polymorphism ; Population genetics ; Risk Factors ; Trisomy</subject><ispartof>European journal of human genetics : EJHG, 2002-06, Vol.10 (6), p.388-390</ispartof><rights>Copyright Nature Publishing Group Jun 2002</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c488t-139726cb5f842e3d0bf85906a30c6214e39801c13db3167b98684dfb38f9c61f3</citedby><cites>FETCH-LOGICAL-c488t-139726cb5f842e3d0bf85906a30c6214e39801c13db3167b98684dfb38f9c61f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12080391$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Stuppia, Liborio</creatorcontrib><creatorcontrib>Gatta, Valentina</creatorcontrib><creatorcontrib>Gaspari, Anna Rita</creatorcontrib><creatorcontrib>Antonucci, Ivana</creatorcontrib><creatorcontrib>Morizio, Elisena</creatorcontrib><creatorcontrib>Calabrese, Giuseppe</creatorcontrib><creatorcontrib>Palka, Giandomenico</creatorcontrib><title>C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><description>The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21, compared to control mothers. 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These results do not support the presence of an increased risk of Down syndrome in mothers carriers of the T allele in the Italian population.</description><subject>Alleles</subject><subject>Children</subject><subject>Dihydrofolate reductase</subject><subject>Down Syndrome - genetics</subject><subject>Down's syndrome</subject><subject>Female</subject><subject>Gene Frequency</subject><subject>Gene polymorphism</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Italy</subject><subject>Methylenetetrahydrofolate reductase</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2)</subject><subject>Mothers</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Oxidoreductases Acting on CH-NH Group Donors - genetics</subject><subject>Polymorphism</subject><subject>Population genetics</subject><subject>Risk Factors</subject><subject>Trisomy</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kc1Lw0AQxRdRbK2evcniQS-m3cludmePUq0tVASp5yUfmzaxSWo2Qfrfm9KA4MHTDMzvPZj3CLkGNgbGceLysc0363HgM4agT8gQhJJeIDiedjsD9AQCH5AL53LGuqOCczIAnyHjGoZkPpVKrWjRNmGTVSXNStpsLA0egHmvq_nsna5taWlYJrTO3CetUvpUfZfU7cukrgp7ECyacLu_JGdpuHX2qp8j8jF7Xk3n3vLtZTF9XHqxQGw84Fr5Mo6CFIVvecKiFAPNZMhZLH0QlmtkEANPIg5SRRoliiSNOKY6lpDyEbk_-u7q6qu1rjFF5mK73YalrVpnVCBQc1-wjrz7nwQUQmm_A2__gHnV1mX3hfFBIVdS8Q6aHKG4rpyrbWp2dVaE9d4AM4cujMvNoQvTd9EpbnrbNips8sv34fMfOhyBOA</recordid><startdate>20020601</startdate><enddate>20020601</enddate><creator>Stuppia, Liborio</creator><creator>Gatta, Valentina</creator><creator>Gaspari, Anna Rita</creator><creator>Antonucci, Ivana</creator><creator>Morizio, Elisena</creator><creator>Calabrese, Giuseppe</creator><creator>Palka, Giandomenico</creator><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>88A</scope><scope>88E</scope><scope>8AO</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>20020601</creationdate><title>C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy</title><author>Stuppia, Liborio ; 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| subjects | Alleles Children Dihydrofolate reductase Down Syndrome - genetics Down's syndrome Female Gene Frequency Gene polymorphism Genotype & phenotype Humans Italy Methylenetetrahydrofolate reductase Methylenetetrahydrofolate Reductase (NADPH2) Mothers Mutation Mutation, Missense Oxidoreductases Acting on CH-NH Group Donors - genetics Polymorphism Population genetics Risk Factors Trisomy |
| title | C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy |
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