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埃及胆道闭锁患儿中MicroRNA-499 rs3746444基因多态性

MicroRNA-499 rs3746444 polymorphism in Egyptian children with biliary atresia.

作者信息

Gawish Eman, El-Monem Elhamy Abd, El-Abd Mona, Sobhy Gihan Ahmed, Ghanem Heba

机构信息

Department of Clinical Pathology, National Liver Institute - Menoufia University, Menoufia, Egypt.

Department of Pediatric Hepatology, Gastroenterology and Nutrition, National Liver Institute - Menoufia University, Menoufia, Egypt.

出版信息

Clin Exp Hepatol. 2020 Sep;6(3):263-269. doi: 10.5114/ceh.2020.99526. Epub 2020 Sep 30.

Abstract

AIM OF THE STUDY

We aimed to evaluate the association of microRNA-499 rs3746444 polymorphism and biliary atresia (BA) risk and its correlation with clinic-pathologic features of BA.

MATERIAL AND METHODS

This study was performed on 300 Egyptian children (100 BA cases, 100 cases with cholestatic liver diseases other than BA and 100 healthy controls). Routine laboratory investigations, clinical examination and abdominal ultrasound were done. All infants were genotyped for miR-499 single nucleotide polymorphisms (SNPs) (rs3746444 A>G) by real-time polymerase chain reaction (PCR) fluorescence detection on a Rotor Gene Real Time PCR System (QIAGEN, GmbH) using fluorescent labeled probes.

RESULTS

The AG genotype was the most prevalent genotype of miR-499 rs3746444 among the studied groups. A significantly higher frequency of the rs3746444 G allele was found in the BA cases than the other groups (odds ratio = 1.62). This polymorphism was also correlated with the degree of fibrosis in BA cases ( < 0.05). The miR-499 rs3746444 polymorphism (GG genotype) was significantly associated with severe form of BA and bad prognosis after the Kasai operation ( < 0.05). miR-499 rs3746444 polymorphism had no effect on the clinic-pathological features or the liver function status in the non-BA group.

CONCLUSIONS

There is an association between the miR-499 SNP genotypes and the occurrence of BA. The variant allele G is the predominant allele in the BA group and is associated with severe liver inflammation and bad prognosis after the Kasai operation.

摘要

研究目的

我们旨在评估微小RNA - 499 rs3746444多态性与胆道闭锁(BA)风险的关联及其与BA临床病理特征的相关性。

材料与方法

本研究对300名埃及儿童进行(100例BA患儿、100例除BA外的胆汁淤积性肝病患儿和100名健康对照)。进行了常规实验室检查、临床检查和腹部超声检查。所有婴儿均使用荧光标记探针,通过在Rotor Gene Real Time PCR系统(QIAGEN,GmbH)上进行实时聚合酶链反应(PCR)荧光检测,对miR - 499单核苷酸多态性(SNP)(rs3746444 A>G)进行基因分型。

结果

AG基因型是研究组中miR - 499 rs3746444最常见的基因型。BA病例中rs3746444 G等位基因的频率显著高于其他组(优势比=1.62)。这种多态性也与BA病例的纤维化程度相关(<0.05)。miR - 499 rs3746444多态性(GG基因型)与严重形式的BA以及葛西手术后的不良预后显著相关(<0.05)。miR - 499 rs3746444多态性对非BA组的临床病理特征或肝功能状态无影响。

结论

miR - 499 SNP基因型与BA的发生之间存在关联。变异等位基因G是BA组中的主要等位基因,与严重肝脏炎症和葛西手术后的不良预后相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/15a7/7592094/e10778b74855/CEH-6-41920-g001.jpg

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