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NFKB1启动子的功能性多态性与西班牙人群的溃疡性结肠炎无关。

A functional polymorphism of the NFKB1 promoter is not associated with ulcerative colitis in a Spanish population.

作者信息

Oliver Javier, Gómez-García María, Paco Laura, López-Nevot Miguel A, Piñero Alexis, Correro Francisco, Martín Leopoldo, Brieva José A, Nieto Antonio, Martín Javier

机构信息

Instituto de Parasitología y Biomedicina López Neyra, Granada, Spain.

出版信息

Inflamm Bowel Dis. 2005 Jun;11(6):576-9. doi: 10.1097/01.mib.0000161916.20007.76.

DOI:10.1097/01.mib.0000161916.20007.76
PMID:15905705
Abstract

BACKGROUND

This study investigated the influence of the NFKB1-94ins/delATTG in the susceptibility/phenotype to ulcerative colitis.

METHODS

We analyzed the distribution of -94ins/delATTG NFKB1 in 258 patients and 264 healthy controls from southern Spain by a polymerase chain reaction-fluorescent method.

RESULTS

The genotype and allele frequencies of -94ins/delATTG did not significantly differ between patients and controls. In fact, the frequency of the -94delATTG allele was almost identical in both groups (34.8% and 35.4%, respectively), and the del/del genotype was underrepresented in UC patients (11.2% versus 14%). In addition, no association of this polymorphism was found with any of the clinical parameters analyzed.

CONCLUSION

These results suggest that the NFKB1 -94ins/delATTG gene variation, previously associated with UC susceptibility in North Americans, does not influence either susceptibility or phenotype of UC in the Spanish population.

摘要

背景

本研究调查了NFKB1 -94ins/delATTG对溃疡性结肠炎易感性/表型的影响。

方法

我们采用聚合酶链反应-荧光法分析了来自西班牙南部的258例患者和264例健康对照中-94ins/delATTG NFKB1的分布情况。

结果

患者和对照之间-94ins/delATTG的基因型和等位基因频率无显著差异。事实上,-94delATTG等位基因在两组中的频率几乎相同(分别为34.8%和35.4%),且UC患者中del/del基因型的比例较低(11.2%对14%)。此外,未发现该多态性与任何分析的临床参数相关。

结论

这些结果表明,先前在北美人群中与UC易感性相关的NFKB1 -94ins/delATTG基因变异,对西班牙人群中UC的易感性或表型均无影响。

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