Toll样受体9基因多态性与尖锐湿疣的研究

目的探讨Toll样受体9的单核苷酸多态性与尖锐湿疣(CA)发病的相关性.方法抽取63例CA患者和23例正常人对照组的外周静脉血,采用TLR9基因直接测序的方法分析TLR9受体的单核苷酸多态性.结果 TLR9基因自翻译起始点第1 174、1635、1269、1724位均存在单核苷酸多态性位点,分别称为SNP1、SNP2、SNP3和SNP4,其中SNP3、SNP4为新发现位点,SNP1、SNP2为NCBI数据库中公布的位点,登录号分别为rs352139、rs352140.CA患者与正常人对照组的SNP1位点的等位基因A的频率分别为0.690、0.609,等位基因G的频率0.309、0.391,两组间比较差异均无统计学意义(P>0.05).SNP2位点的等位基因A的频率分别为0.302、0.369,等位基因G的频率0.698、0.630,两组间比较差异无统计学意义(P>0.05).SNP1、SNP2两个多态性位点存在4种单倍体型,分别为AA、AG、GA、GG.每种单倍体型在CA患者组和正常人对照组间比较差异均无统计学意义(P>0.05).结论 TLR9基因在广东汉族人群中存在4个单核苷酸多态性位点,分别为SNP1、SNP2、SNP3、SNP4.SNP1、SNP2两位点与CA的发病易感性可能无相关性.

Preliminary study on the relationship between the Toll-like receptor 9 (TLR9) gene polymorphism and condyloma acuminatum

Objective To investigate the relationship between the single nucleotide polymorphisms (SNPs) of TLR9 gene and the occurrence of condyloma acuminatum (CA). Methods Peripheral venous blood was obtained from 63 patients with CA and 23 normal human controls with informed consent. DNA was extracted from the blood samples and subjected to the amplification of TLR9 gene by PCR followed by sequence analysis. Results There were 4 SNPs, i.e., SNP1, SNP2, SNP3 and SNP4 at positions 1174, 1635, 1269 and 1724 of the TLR9 gene, respectively. Of these SNPs, SNP1 was located in intron 1, SNP2, SNP3 and SNP4 in exon 2. The registration number is rs352139 for SNP1, rs352140 for SNP2 in NCBI database. SNP3 and SNP4 were newly discovered positions. The frequency at SNP1 position was 0.690 and 0.609 for allele A in the patients and controls, respectively, 0.309 and 0.391 for allele G, respectively (both P > 0.05). No significant difference was observed between the patients and controls in the frequency of allele A or allele G at position SNP2 (0.302 vs. 0.698, 0.369 vs. 0.630, both P > 0.05). There were 4 haplotypes at the SNP1 and SNP2 positions, including AA, AG, GA and GG, with no significant difference in the frequency between the patients and controls (all P> 0.05). Conclusions There are 4 SNPs including SNP1, SNP2, SNP3 and SNP4 in the TLR9 gene in Guangdong Han population. SNP1 and SNP2 appear unrelated to the liability to CA.