Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation
We evaluated the allele (and genotype frequencies in 60 Down syndrome (DS), 25 mothers and 57 controls from Sicily and its relation with mental retardation. DS patients and sex ratio (M:F) was 22.1+/-10.5 and 1.14, respectively. Allele varepsilon4 and varepsilon3 frequencies were respectively lower...
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Veröffentlicht in: | Neuroscience letters 2001-06, Vol.306 (1-2), p.129-131 |
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description | We evaluated the allele (and genotype frequencies in 60 Down syndrome (DS), 25 mothers and 57 controls from Sicily and its relation with mental retardation. DS patients and sex ratio (M:F) was 22.1+/-10.5 and 1.14, respectively. Allele varepsilon4 and varepsilon3 frequencies were respectively lower (P=0.015) and higher (P=0.005) in DS patients compared to controls. Genotype varepsilon3/varepsilon4 and varepsilon3/varepsilon3 were less (P=0.03) and more frequent (P=0.001) in DS patients, with respective odd ratios of 0.31 (CI at 95%: 0.18-0.49) and of 4.4 (CI at 95%: 3.4-5.7). No difference of allele (distribution was found in function of the grades of mental retardation according to DMS-IV. Our results show that the implication of Apo-E4 in the pathogenesis of Alzheimer disease cannot be extrapolated in that of dementia of DS. |
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DS patients and sex ratio (M:F) was 22.1+/-10.5 and 1.14, respectively. Allele varepsilon4 and varepsilon3 frequencies were respectively lower (P=0.015) and higher (P=0.005) in DS patients compared to controls. Genotype varepsilon3/varepsilon4 and varepsilon3/varepsilon3 were less (P=0.03) and more frequent (P=0.001) in DS patients, with respective odd ratios of 0.31 (CI at 95%: 0.18-0.49) and of 4.4 (CI at 95%: 3.4-5.7). No difference of allele (distribution was found in function of the grades of mental retardation according to DMS-IV. Our results show that the implication of Apo-E4 in the pathogenesis of Alzheimer disease cannot be extrapolated in that of dementia of DS.</description><identifier>ISSN: 0304-3940</identifier><identifier>PMID: 11403974</identifier><language>eng</language><publisher>Ireland</publisher><subject>Adolescent ; Adult ; Alzheimer Disease - genetics ; Alzheimer Disease - physiopathology ; Apolipoprotein E4 ; Apolipoproteins E - genetics ; Apolipoproteins E - metabolism ; DNA Mutational Analysis ; Down Syndrome - epidemiology ; Down Syndrome - genetics ; Down Syndrome - physiopathology ; Female ; Gene Frequency - genetics ; Genotype ; Humans ; Intellectual Disability - epidemiology ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; Male ; Sicily - epidemiology</subject><ispartof>Neuroscience letters, 2001-06, Vol.306 (1-2), p.129-131</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11403974$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Anello, G</creatorcontrib><creatorcontrib>Guéant, J</creatorcontrib><creatorcontrib>Romano, C</creatorcontrib><creatorcontrib>Barone, C</creatorcontrib><creatorcontrib>Pettinato, R</creatorcontrib><creatorcontrib>Pillot, T</creatorcontrib><creatorcontrib>Rodriguez, R</creatorcontrib><creatorcontrib>Romano, A</creatorcontrib><creatorcontrib>Bosco, P</creatorcontrib><title>Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation</title><title>Neuroscience letters</title><addtitle>Neurosci Lett</addtitle><description>We evaluated the allele (and genotype frequencies in 60 Down syndrome (DS), 25 mothers and 57 controls from Sicily and its relation with mental retardation. DS patients and sex ratio (M:F) was 22.1+/-10.5 and 1.14, respectively. Allele varepsilon4 and varepsilon3 frequencies were respectively lower (P=0.015) and higher (P=0.005) in DS patients compared to controls. Genotype varepsilon3/varepsilon4 and varepsilon3/varepsilon3 were less (P=0.03) and more frequent (P=0.001) in DS patients, with respective odd ratios of 0.31 (CI at 95%: 0.18-0.49) and of 4.4 (CI at 95%: 3.4-5.7). No difference of allele (distribution was found in function of the grades of mental retardation according to DMS-IV. Our results show that the implication of Apo-E4 in the pathogenesis of Alzheimer disease cannot be extrapolated in that of dementia of DS.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Alzheimer Disease - genetics</subject><subject>Alzheimer Disease - physiopathology</subject><subject>Apolipoprotein E4</subject><subject>Apolipoproteins E - genetics</subject><subject>Apolipoproteins E - metabolism</subject><subject>DNA Mutational Analysis</subject><subject>Down Syndrome - epidemiology</subject><subject>Down Syndrome - genetics</subject><subject>Down Syndrome - physiopathology</subject><subject>Female</subject><subject>Gene Frequency - genetics</subject><subject>Genotype</subject><subject>Humans</subject><subject>Intellectual Disability - epidemiology</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - physiopathology</subject><subject>Male</subject><subject>Sicily - epidemiology</subject><issn>0304-3940</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kM1OwzAQhHMA0VJ4BbQnbpXs2k6aY1XKj1SJA71Xm3jdGjl2sFNQ34jHxIVyWmln5pNmLooxE0xORS3ZqLhO6Z0xpriSV8WIc8lEXclx8b1wjhzBJ0bqk3XBSwgGsA_O9qGPYSDrYQU78gQ2gaOUwET6OJAfIEsP4ctDOnodQ0fQ42BPQkYMe4I321pn0UNGHVzWggf0GvaYwIccNy5zWoL8P_l3ETWdwl2GoINIA0b9m7spLg26RLfnOyk2j6vN8nm6fn16WS7W015JOSUxL0veYqm1IKVJU1u2aiaZ1KZskCtsypqbqq15yWdGKuKiMlUj0JRs3qCYFPd_2Fw9d0zDtrOpJefQUzikbcXqmVSKZ-Pd2XhoOtLbPtoO43H7P634AXhNeEE</recordid><startdate>20010622</startdate><enddate>20010622</enddate><creator>Anello, G</creator><creator>Guéant, J</creator><creator>Romano, C</creator><creator>Barone, C</creator><creator>Pettinato, R</creator><creator>Pillot, T</creator><creator>Rodriguez, R</creator><creator>Romano, A</creator><creator>Bosco, P</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20010622</creationdate><title>Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation</title><author>Anello, G ; Guéant, J ; Romano, C ; Barone, C ; Pettinato, R ; Pillot, T ; Rodriguez, R ; Romano, A ; Bosco, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p544-e38661ca6dd3e5dedec6c52404df6ba15ab691f7c91612f45e137f7b3af608ba3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Alzheimer Disease - genetics</topic><topic>Alzheimer Disease - physiopathology</topic><topic>Apolipoprotein E4</topic><topic>Apolipoproteins E - genetics</topic><topic>Apolipoproteins E - metabolism</topic><topic>DNA Mutational Analysis</topic><topic>Down Syndrome - epidemiology</topic><topic>Down Syndrome - genetics</topic><topic>Down Syndrome - physiopathology</topic><topic>Female</topic><topic>Gene Frequency - genetics</topic><topic>Genotype</topic><topic>Humans</topic><topic>Intellectual Disability - epidemiology</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - physiopathology</topic><topic>Male</topic><topic>Sicily - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Anello, G</creatorcontrib><creatorcontrib>Guéant, J</creatorcontrib><creatorcontrib>Romano, C</creatorcontrib><creatorcontrib>Barone, C</creatorcontrib><creatorcontrib>Pettinato, R</creatorcontrib><creatorcontrib>Pillot, T</creatorcontrib><creatorcontrib>Rodriguez, R</creatorcontrib><creatorcontrib>Romano, A</creatorcontrib><creatorcontrib>Bosco, P</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Neuroscience letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Anello, G</au><au>Guéant, J</au><au>Romano, C</au><au>Barone, C</au><au>Pettinato, R</au><au>Pillot, T</au><au>Rodriguez, R</au><au>Romano, A</au><au>Bosco, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation</atitle><jtitle>Neuroscience letters</jtitle><addtitle>Neurosci Lett</addtitle><date>2001-06-22</date><risdate>2001</risdate><volume>306</volume><issue>1-2</issue><spage>129</spage><epage>131</epage><pages>129-131</pages><issn>0304-3940</issn><abstract>We evaluated the allele (and genotype frequencies in 60 Down syndrome (DS), 25 mothers and 57 controls from Sicily and its relation with mental retardation. DS patients and sex ratio (M:F) was 22.1+/-10.5 and 1.14, respectively. Allele varepsilon4 and varepsilon3 frequencies were respectively lower (P=0.015) and higher (P=0.005) in DS patients compared to controls. Genotype varepsilon3/varepsilon4 and varepsilon3/varepsilon3 were less (P=0.03) and more frequent (P=0.001) in DS patients, with respective odd ratios of 0.31 (CI at 95%: 0.18-0.49) and of 4.4 (CI at 95%: 3.4-5.7). No difference of allele (distribution was found in function of the grades of mental retardation according to DMS-IV. Our results show that the implication of Apo-E4 in the pathogenesis of Alzheimer disease cannot be extrapolated in that of dementia of DS.</abstract><cop>Ireland</cop><pmid>11403974</pmid><tpages>3</tpages></addata></record> |
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subjects | Adolescent Adult Alzheimer Disease - genetics Alzheimer Disease - physiopathology Apolipoprotein E4 Apolipoproteins E - genetics Apolipoproteins E - metabolism DNA Mutational Analysis Down Syndrome - epidemiology Down Syndrome - genetics Down Syndrome - physiopathology Female Gene Frequency - genetics Genotype Humans Intellectual Disability - epidemiology Intellectual Disability - genetics Intellectual Disability - physiopathology Male Sicily - epidemiology |
title | Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation |
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