Analysis of protocadherin alpha gene enhancer polymorphism in bipolar disorder and schizophrenia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023752%3A_____%2F08%3A00000909" target="_blank" >RIV/00023752:_____/08:00000909 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Analysis of protocadherin alpha gene enhancer polymorphism in bipolar disorder and schizophrenia

Original language description

Cadherins and protocadherins are cell adhesion proteins that play an important role in neuronal migration, differentiation and synaptogenesis, properties that make them targets to consider in schizophrenia (SZ) and bipolar disorder (BD) pathogenesis. Consequently, allelic variation occurring in protocadherin and cadherin encoding genes that map to regions of the genome targeted in SZ and BD linkage studies are particularly strong candidates to consider. One such set of candidate genes is the 5q31-linkedPCDH family, which consists of more than 50 exons encoding three related, though distinct family members ? á, â, and ă ? which can generate thousands of different protocadherin proteins through alternative promoter usage and cis-alternative splicing. Inthis study, we focused on a SNP, rs31745, which is located in a putative PCDHá enhancer mapped by ChIP-chip using antibodies to covalently modified histone H3. A striking increase in homozygotes for the minor allele at this locus was det

Czech name

Analýza enhancerové oblasti genu pro protocadherin alfa u pacientů s bipolární poruchou a schizofrenií

Czech description

Kadheriny a protokadheriny zajišťují buněčnou adhezi. Tyto proteiny hrají důležitou roli v neuronální migraci, diferenciaci a synaptogenezi, a proto mohou být důležitými činiteli v patogenezi bipolární poruchy a schizofrenie. V této studii jsme se zaměřili na analýzu SNP, rs31745, v enhancerové oblasti genu pro protokadherin alfa. U pacientů s bipolární poruchou byl zjištěn nárůst homozygotů pro méně častou alelu. Molekulární analýza prokázala, že tento SNP způsobuje alelicky specifické změny vazby na mozkové proteiny. Naše výsledky ukazují, že SNP, rs31745, v enhancerové oblasti genu pro protokadherin alfa, je vhodné dále zkoumat jako kandidátní lokus pro psychiatrické poruchy.

Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FL - Psychiatry, sexology

OECD FORD branch

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Project

<a href="/en/project/NR8564" target="_blank" >NR8564: THE ROLE OF PHOSPHOINOSITIDE PATHWAY IN SUSCEPTIBILITY TO BIPOLAR AFFECTIVE DISORDER</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2008

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Schizophrenia Research

ISSN

0920-9964

e-ISSN

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Volume of the periodical

102

Issue of the periodical within the volume

1-3

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

10

Pages from-to

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UT code for WoS article

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EID of the result in the Scopus database

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