ASSOCIATION OF COMPLEMENTFACTOR H GENE (CFH) SINGLE NUCLEOTIDE POLYMORPHISM WITH RECURRENT APHTHUS STOMATITIS

A. Salih, Haliz Saddeq Hasan, Soleen Sardar Zuhdin, Abdulrazzaq Mohammed Abdulrahman
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Abstract

Background: Recurrent aphthous stomatitis (RAS) is a common chronic inflammation affecting oral mucosa that lead to mucosal ulceration. The causes are unclear, but dysregulation of the immune response has been proposed to be implicated in the development of the disease. In this study, we hypothesized that RAS is provoked by the dysregulation of the complement system, through the impairment of the function of complement regulatory proteins, the present study has aimed to investigate the impact of CFH gene SNPs that encodes the production of complement factor H in RAS development. Subject and Methods: Blood samples from 46 patientswith recurrent aphthus stomatitis were collected including 35 males and 11 females and 46 age and sex matched apparently healthy (with healthy oral cavity) volunteersincluding 23 males and 23 females were involved as a control group. Gnomic DNA was extractedfrom each blood sampleusing the isopropanol/ethanol method. Specific primers were used to amplify the CFH gene fragment that harbors the rs1061170 site encoding theTyr402 aminoacid. The PCR products were digested with NlaIII restriction enzyme. Results: A significant difference was found between the age groups among the RAS patients in regard to the severity of and recurrence of the RAS episodes, it was found to be higher significantly among the age group (20-30 years) compared to other age groups among RAS patients. Out of the 46 RAS patients, the CFH single nucleotide polymorphism (SNP), Tyr402His polymorphism variant was detected in 18 (39.1%); 11 (23.9%) females and 7 (15.2%) males, represented as 8 (17.4%) Tyr/His heterozygous variants and 10 (21.7%) were His/His homozygous variant. Among the 46 healthy control group, the CFH single nucleotide polymorphism (SNP), (Tyr402His polymorphism variant) was detected in 6 (13%) all of them were Tyr402His variant, 2 (4.3%) males and 4 (8.7%) females. There was a significant difference in the CFH (Tyr/His, His/His) variants rates between the RAS group and the healthy control group (p <0.05), but there was no significant difference of CFH (Tyr/His, His/His) variants rates between the males and females in the RAS group. Conclusions: We suggest that Tyr402Hispolymorphism can be considered as a risk factor for the RAS development, and His204His variant is more associated with the disease, however, more studies are recommended to be conducted on a larger sample size to confirm these evidences. Duhok Med J 2017; 11 (2): 84-95.
互补因子h基因(cfh)单核苷酸多态性与复发性口腔炎的关系
背景:复发性口腔炎(RAS)是一种常见的影响口腔黏膜的慢性炎症,可导致黏膜溃疡。病因尚不清楚,但免疫反应失调已被认为与疾病的发展有关。在本研究中,我们假设RAS是由补体系统的失调引起的,通过补体调节蛋白的功能受损,本研究旨在研究编码补体因子H产生的CFH基因snp在RAS发育中的影响。对象与方法:收集了46例复发性口腔溃疡性炎患者的血液样本,其中男性35例,女性11例;46例年龄和性别匹配的表面健康(口腔健康)志愿者,其中男性23例,女性23例作为对照组。使用异丙醇/乙醇法从每个血液样本中提取基因组DNA。使用特异性引物扩增CFH基因片段,该片段包含编码tyr402氨基酸的rs1061170位点。PCR产物用NlaIII限制性内切酶酶切。结果:不同年龄段的RAS患者在RAS发作的严重程度和复发率方面存在显著性差异,其中20-30岁年龄段的RAS患者复发率明显高于其他年龄段。46例RAS患者中检出CFH单核苷酸多态性(SNP)、Tyr402His多态性变异18例(39.1%);女性11例(23.9%),男性7例(15.2%),其中Tyr/His杂合变异8例(17.4%),His/His纯合变异10例(21.7%)。46例健康对照组中检出CFH单核苷酸多态性(SNP) (Tyr402His多态性变异)6例(13%),均为Tyr402His变异,男性2例(4.3%),女性4例(8.7%)。RAS组CFH (Tyr/His、His/His)变异率与健康对照组比较差异有统计学意义(p <0.05),而RAS组CFH (Tyr/His、His/His)变异率在男女之间比较差异无统计学意义(p <0.05)。结论:我们认为tyr402his多态性可被认为是RAS发生的危险因素,而His204His变异与该疾病的相关性更大,但建议进行更多的大样本量的研究来证实这些证据。杜霍克医学杂志2017;11(2): 84-95。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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