Informace o publikaci

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

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FREIBERGER Tomáš RAVČUKOVÁ Barbora GRODECKÁ Lucie PIKULOVÁ Z. ŠTIKAROVSKÁ D. PEŠÁK Sáva KUKLÍNEK Pavel JARKOVSKÝ Jiří SALZER U. LITZMAN Jiří

Rok publikování 2012
Druh Článek v odborném periodiku
Časopis / Zdroj Human Immunology
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www http://dx.doi.org/10.1016/j.humimm.2012.07.342
Doi http://dx.doi.org/10.1016/j.humimm.2012.07.342
Obor Kardiovaskulární nemoci včetně kardiochirurgie
Klíčová slova TNFRSF13B (TACI); mutation; polymorphism; CVID; IgAD
Přiložené soubory
Popis 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 different mutations 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 < 10^6), while statistical significance disappeared for IgAD (5.7% vs. 3.2%, p = 0.145). The silent mutation p.P97P was shown to be associated significantly with CVID compared with the controls in both Czech patients (allele frequency 4.3% vs. 0.2%, p = 0.01) and in connection with the published data (5.1% vs. 1.8%, p = 0.003). The relevance of some TNFRSF13B gene variants remains unclear and needs to be elu- cidated in future studies.
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