CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia
Identifieur interne : 002E82 ( Main/Exploration ); précédent : 002E81; suivant : 002E83CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia
Auteurs : Claudine Laurent [France] ; Dana Niehaus [Afrique du Sud] ; Stéphanie Bauché [France] ; Douglas F. Levinson [États-Unis] ; Stéphane Soubigou [France] ; Simon Pimstone [Canada] ; Michael Hayden [Canada] ; Irena Mbanga [Afrique du Sud] ; Robin Emsley [Afrique du Sud] ; Jean-François Deleuze [France] ; Jacques Mallet [France]Source :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2003-01-01.
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Abstract
The purpose of this study was to determine whether genetic linkage or association could be observed between schizophrenia (SZ) and the CAG repeat polymorphisms within the genes KCNN3 (known previously as hSKCa3) and PPP2R2B (linked to Spino‐Cerebellar Atrophy 12) in the Xhosa population in South Africa. Neither locus has been studied previously in African populations. The polymorphisms were genotyped in 589 individuals to form samples for Transmission Disequilibrium Test (TDT) analysis (176 unrelated probands, 145 with both parents and 30 with one parent genotyped), linkage analysis (49 families with 54 independent affected sib pairs [ASPs]), and case‐control analyses (67 familial cases with a first‐degree SZ relative, 101 sporadic cases with no affected first‐ or second‐degree relative, and 90 control cases). No significant differences were found among familial cases, sporadic cases and controls in allele sizes (Kruskal‐Wallis tests) or the numbers of alleles with sizes above and below the mean size for each polymorphism. Allele size was not correlated with age of onset (Spearman correlation). No significant evidence for association was observed using TDT analyses for all triads and separately for the familial triads. No significant evidence for linkage was observed for either locus with affected sib pair analysis using the possible triangle method or with Non‐Parametric Linkage (NPL) analysis of the multiplex families. In conclusion, no significant evidence for linkage or association with SZ was observed for either polymorphism in this population. © 2002 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.10797
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J. Med. Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="2003-01-01">2003-01-01</date><biblScope unit="volume">116B</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="45">45</biblScope><biblScope unit="page" to="50">50</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">992896F299B5B7B155A922AD12B06450CCD4C36C</idno><idno type="DOI">10.1002/ajmg.b.10797</idno><idno type="ArticleID">AJMG10797</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>CAG repeat</term><term>KCNN3</term><term>PPP2R2B</term><term>schizophrenia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The purpose of this study was to determine whether genetic linkage or association could be observed between schizophrenia (SZ) and the CAG repeat polymorphisms within the genes KCNN3 (known previously as hSKCa3) and PPP2R2B (linked to Spino‐Cerebellar Atrophy 12) in the Xhosa population in South Africa. Neither locus has been studied previously in African populations. The polymorphisms were genotyped in 589 individuals to form samples for Transmission Disequilibrium Test (TDT) analysis (176 unrelated probands, 145 with both parents and 30 with one parent genotyped), linkage analysis (49 families with 54 independent affected sib pairs [ASPs]), and case‐control analyses (67 familial cases with a first‐degree SZ relative, 101 sporadic cases with no affected first‐ or second‐degree relative, and 90 control cases). No significant differences were found among familial cases, sporadic cases and controls in allele sizes (Kruskal‐Wallis tests) or the numbers of alleles with sizes above and below the mean size for each polymorphism. Allele size was not correlated with age of onset (Spearman correlation). No significant evidence for association was observed using TDT analyses for all triads and separately for the familial triads. No significant evidence for linkage was observed for either locus with affected sib pair analysis using the possible triangle method or with Non‐Parametric Linkage (NPL) analysis of the multiplex families. In conclusion, no significant evidence for linkage or association with SZ was observed for either polymorphism in this population. © 2002 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Afrique du Sud</li><li>Canada</li><li>France</li><li>États-Unis</li></country><region><li>Pennsylvanie</li><li>Île-de-France</li></region><settlement><li>Paris</li><li>Évry (Essonne)</li></settlement></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Laurent, Claudine" sort="Laurent, Claudine" uniqKey="Laurent C" first="Claudine" last="Laurent">Claudine Laurent</name></region><name sortKey="Bauche, Stephanie" sort="Bauche, Stephanie" uniqKey="Bauche S" first="Stéphanie" last="Bauché">Stéphanie Bauché</name><name sortKey="Deleuze, Jean Rancois" sort="Deleuze, Jean Rancois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><name sortKey="Mallet, Jacques" sort="Mallet, Jacques" uniqKey="Mallet J" first="Jacques" last="Mallet">Jacques Mallet</name><name sortKey="Mallet, Jacques" sort="Mallet, Jacques" uniqKey="Mallet J" first="Jacques" last="Mallet">Jacques Mallet</name><name sortKey="Soubigou, Stephane" sort="Soubigou, Stephane" uniqKey="Soubigou S" first="Stéphane" last="Soubigou">Stéphane Soubigou</name></country><country name="Afrique du Sud"><noRegion><name sortKey="Niehaus, Dana" sort="Niehaus, Dana" uniqKey="Niehaus D" first="Dana" last="Niehaus">Dana Niehaus</name></noRegion><name sortKey="Emsley, Robin" sort="Emsley, Robin" uniqKey="Emsley R" first="Robin" last="Emsley">Robin Emsley</name><name sortKey="Mbanga, Irena" sort="Mbanga, Irena" uniqKey="Mbanga I" first="Irena" last="Mbanga">Irena Mbanga</name></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Levinson, Douglas F" sort="Levinson, Douglas F" uniqKey="Levinson D" first="Douglas F." last="Levinson">Douglas F. Levinson</name></region></country><country name="Canada"><noRegion><name sortKey="Pimstone, Simon" sort="Pimstone, Simon" uniqKey="Pimstone S" first="Simon" last="Pimstone">Simon Pimstone</name></noRegion><name sortKey="Hayden, Michael" sort="Hayden, Michael" uniqKey="Hayden M" first="Michael" last="Hayden">Michael Hayden</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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