FCN2 c.772G>T polymorphism is associated with chronic adenoiditis and/or tonsillitis, but not −4 A>G and −602 G>A

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• 作者：Alper N. Erkan^a ; Isilay Oz^a ; ^{isilaydgn@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Yunus K. Terzi^b ; Erdinc Aydin^a ; Murat Ozkale^c ; Seda Turkoglu Babakurban^a ; Alper Koycu^a ; Feride Iffet Sahin^b
• 关键词：Ficolin 2 ; Genotype ; Polymorphism ; Chronic adenotonsillitis
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：87
• 期：Complete
• 页码：1-4
• 全文大小：212 K

文摘

Ficolins are complement activating peptides that play a role in the initial host defense against infectious pathogens. In the present study, we investigated the relationship between single nucleotide polymorphisms (SNPs) in the ficolin 2 gene (FCN2) and chronic adenotonsillitis in pediatric cases.

Study Design

Case-control study.

Methods

A total of 101 pediatric patients diagnosed with chronic adenotonsillitis and 100 healthy children were enrolled in the study. Genotypes of FCN2 promoter SNPs – 602 G>A and −4 A>G, and the exonic SNP c.772G>T were determined by light SNP assay after realtime PCR analysis using genomic DNA samples obtained from peripheral blood samples of all participants.

Results

Of the 101 chronic tonsillitis patients, 38 were girls and 63 were boys; the mean age was 5.2 ± 2.3 years. The c.772G>T SNP frequency was significantly higher in chronic adenotonsillitis cases compared to the control group (p = 0.00); however, no significant difference was determined at positions −602 G>A or −4 A>G (p > 0.05).

Conclusions

The FCN2 c.772G>T genotype appears to be associated with predisposition to chronic adenotonsillitis in the pediatric age group. This nucleotide change is likely to influence the level of gene expression and contribute to the development of disease.