PDGFRA启动子SNPs与广西壮族人群鼻咽癌易感性的关系研究

Study on the relationship between the PDGFRA gene promoter SNPs and the susceptibility to nasopharyngeal carcinoma in population of Zhuang nationality in Guangxi

目的探讨血小板源性生长因子受体α多肽(platelet derived growth factor receptor alpha,PDGFRA)基因启动子rs6554162和rs1800812的SNPs与广西壮族人群鼻咽癌(nasopharyngeal carcinoma,NPC)易感性的关系。方法采用病例对照法,选取2018年5月1日—2020年5月1日经右江民族医学院附属医院病理组织确诊的120例广西壮族人群NPC患者作为病例组,同期该医院常规体检的126名健康人作为对照组。运用多重PCR扩增及高通量测序法检测两组PDGFRA基因rs6554162和rs1800812位点的基因型,并分析其单倍型频率。结果rs6554162位点基因型GG、GA和AA,等位基因G和A,显性模型与隐性模型在两组中比较差异均无统计学意义(P>0.05);rs1800812位点基因型GG、GT和TT,等位基因G和T,显性模型与隐性模型在两组中比较差异无统计学意义(P>0.05);单倍型分析在两组中分布频率差异亦无统计学意义(P>0.05)。结论PDGFRA基因启动子rs6554162和rs1800812的SNPs可能与鼻咽癌易感性无关联,不增加广西壮族人群鼻咽癌的患病风险。

Objective To investigate the relationship between SNPs(rs6554162 and rs1800812)in the gene promoter of platelet derived growth factor receptor alpha(PDGFRA)polypeptide and the susceptibility to nasopharyngeal carcinoma(NPC)in population of Zhuang nationality in Guangxi.Methods The case-control method was used to select a total of 120 NPC patients of Zhuang nationality in Guangxi confirmed by the pathological tissue examination of the Affiliated Hospital of Youjiang Medical University for Nationalities from May 1,2018 to May 1,2020 as the case group,and 126 healthy people who underwent routine physical examination in the hospital during the same period were selected as the control group.The genotypes of rs6554162 and rs1800812 loci of PDGFRA gene were detected by multiplex PCR amplification and high-throughput sequencing,and the haplotype frequencies were analyzed.Results There was no significant difference in genotypes GG,GA and AA of rs6554162 locus,alleles G and A,dominant model and recessive model between the two groups(P>0.05).There was no significant difference in genotypes GG,GT and TT of rs1800812 locus,alleles G and T,dominant model and recessive model between the two groups(P>0.05).There was no significant difference in haplotype distribution frequency between the two groups(P>0.05)too.Conclusion PDGFRA gene promoter SNPs at rs6554162 and rs1800812 may not be associated with the susceptibility to nasopharyngeal carcinoma and do not increase the risk of nasopharyngeal carcinoma in population of Zhuang nationality in Guangxi.