目的:在现有文献中,对于放射敏感蛋白51(RAD-51)在翼状胬肉诊断中的作用,目前明显缺乏相关研究.然而,报告显示,与原发性翼状胬肉相比,复发性翼状胬肉中RAD-51的表达水平升高.然而,尚未在任何人群中探索RAD-51的基因组参与。这项研究旨在评估RAD-51基因型对台湾代表性人群翼状胬肉风险的贡献。
方法:RAD-51rs1801320在台湾队列中成功进行了基因分型,该队列包括140例翼状胬肉病例和280例非翼状胬肉对照,使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术。
结果:RAD-51rs1801320基因型的分布(GG,CG,和CC)在翼状胬肉组(70.0%,25.7%,和4.3%,分别)与非翼状胬肉组(73.6%,23.6%,GG为2.8%,CG,和CC基因型,分别为趋势p=0.6337)。变异CG和CCRAD-51rs1801320基因型的携带者表现出翼状胬肉风险增加1.15和1.58倍,分别(95CI=0.72-1.84和0.53-4.67,p=0.6552和p=0.5914)。在主导模型中,变异基因型CG和CC与翼状胬肉风险之间似乎存在轻微关联(OR=1.19,95CI=0.76-1.87,p=0.0223).等位基因分析显示,RAD-51rs1801320变异C等位基因与翼状胬肉风险无显著关联(17.1%对14.6%,OR=1.20,95CI=0.82-1.78,p=0.3991)。
结论:首先发现RAD-51rs1801320的变异基因型与台湾个体对翼状胬肉的易感性有关。尽管如此,这些发现值得在更大和更多样化的人群中验证.
OBJECTIVE: In current literature, there is a notable lack of studies investigating the role of radiation-sensitive protein 51 (RAD-51) in pterygium diagnosis. Nevertheless, reports indicate elevated expression levels of RAD-51 among recurrent pterygium cases compared to those with primary pterygium. However, the genomic involvement of RAD-51 has yet to be explored in any population. This study aimed to assess the contribution of RAD-51 genotypes to pterygium risk in a representative Taiwanese population.
METHODS: RAD-51 rs1801320 genotyping was successfully conducted in a Taiwanese cohort comprising 140 pterygium cases and 280 non-pterygium controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technology.
RESULTS: The distribution of RAD-51 rs1801320 genotypes (GG, CG, and CC) in the pterygium group (70.0%, 25.7%, and 4.3%, respectively) did not significantly differ from that in the non-pterygium group (73.6%, 23.6%, and 2.8% for GG, CG, and CC genotypes, respectively; p for trend=0.6337). Carriers of the variant CG and CC RAD-51 rs1801320 genotypes exhibited 1.15- and 1.58-fold increased pterygium risk, respectively (95%CI=0.72-1.84 and 0.53-4.67, p=0.6552 and p=0.5914, respectively). In the dominant model, there appeared to be a slight association between variant genotypes CG and CC and pterygium risk (OR=1.19, 95%CI=0.76-1.87, p=0.0223). Allelic analysis revealed that the RAD-51 rs1801320 variant C allele was not significantly linked to pterygium risk (17.1% versus 14.6%, OR=1.20, 95%CI=0.82-1.78, p=0.3991).
CONCLUSIONS: Variant genotypes at RAD-51 rs1801320 were firstly identified to associate with susceptibility to pterygium among Taiwanese individuals. Nonetheless, these findings warrant validation in larger and more diverse populations.