Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F12%3A00062189" target="_blank" >RIV/00216224:14110/12:00062189 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00209775:_____/12:#0000237 RIV/00159816:_____/12:#0000819

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.humimm.2012.07.342" target="_blank" >http://dx.doi.org/10.1016/j.humimm.2012.07.342</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.humimm.2012.07.342" target="_blank" >10.1016/j.humimm.2012.07.342</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

Popis výsledku v původním jazyce

Mutations in the TNFRSF13B gene, encoding TACI, have been found in common variable immunodefi- ciency (CVID) and selective IgA deficient (IgAD) patients, but only the association with CVID seems to be significant. In this study, Czech CVID, IgAD and primary hypo/dysgammaglobulinemic (HG/DG) patients were screened for all TNFRSF13B sequence variants. The TNFRSF13B gene was mutated in 4/70 CVID patients (5.7%), 9/161 IgAD patients (5.6%), 1/17 HG/DG patient (5.9%) and none of 195 controls. Eight differentmutations were detected, including the most frequent p.C104R and p.A181E mutations as well as 1 novel missense mutation, p.R189K. A significant association of TNFRSF13B gene mutations was observed in both CVID (p = 0.01) and IgAD (p = 0.002) Czech patients. However, when combined with all published data, only the association with CVID remained significant compared with the controls (9.9% vs. 3.2%, p &lt; 10^6), while statistical significance disappeared for IgAD (5.7% vs. 3.2%, p = 0.14

Název v anglickém jazyce

Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

Popis výsledku anglicky

Mutations in the TNFRSF13B gene, encoding TACI, have been found in common variable immunodefi- ciency (CVID) and selective IgA deficient (IgAD) patients, but only the association with CVID seems to be significant. In this study, Czech CVID, IgAD and primary hypo/dysgammaglobulinemic (HG/DG) patients were screened for all TNFRSF13B sequence variants. The TNFRSF13B gene was mutated in 4/70 CVID patients (5.7%), 9/161 IgAD patients (5.6%), 1/17 HG/DG patient (5.9%) and none of 195 controls. Eight differentmutations were detected, including the most frequent p.C104R and p.A181E mutations as well as 1 novel missense mutation, p.R189K. A significant association of TNFRSF13B gene mutations was observed in both CVID (p = 0.01) and IgAD (p = 0.002) Czech patients. However, when combined with all published data, only the association with CVID remained significant compared with the controls (9.9% vs. 3.2%, p &lt; 10^6), while statistical significance disappeared for IgAD (5.7% vs. 3.2%, p = 0.14

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FA - Kardiovaskulární nemoci včetně kardiochirurgie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

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

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Human Immunology

ISSN

0198-8859

e-ISSN

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Svazek periodika

73

Číslo periodika v rámci svazku

11

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

1147-1154

Kód UT WoS článku

000310717500014

EID výsledku v databázi Scopus

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