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背景与目的:近年来在不同人群的研究中,全基因组关联研究已经发现了许多与前列腺癌(prostate cancer,PCa)风险相关的单核苷酸多态性位点(single nucleotide polymorphisms,SNPs)。本文探讨了两个SNPs,即rs17021918(4q22)与rs10090154(8q24)和中国北方汉族人PCa的相关性。方法:采用病例对照的研究方法,本研究入选了124例PCa患者和111例健康对照者,采用聚合酶链反应-高分辨熔解曲线(PCR-HRM)技术,并结合测序验证法,对rs17021918(4q22)与rs10090154(8q24)进行基因型及等位基因频率的分析,并探讨其与确诊时的体重指数(body mass index,BMI)、Gleason评分、血清前列腺特异性抗原(prostatespecific antigen,PSA)水平、肿瘤分期及年龄等临床特征之间的联系。结果:在风险等位基因、基因型及分层分析中,rs17021918虽然并未观察到有统计学意义的结果,但风险比(the odds ratio,OR)值多<1,其中在BMI>27.5 kg/m2(P=0.056;OR=0.292;95%CI:0.078～1.095)和PSA浓度<10.0 ng/mL组(P=0.068;OR=0.467;95%CI:0.204～1.069),CC基因型携带者可能有较低的PCa发病风险;另外发现,rs10090154的T等位基因携带者与较低的肿瘤分期关联(P=0.012;OR=2.512;95%CI:1.210～5.214),而在较高的肿瘤分期组,T等位基因携带者与非T等位基因携带者之间差异有统计学意义(P=0.039)。结论:Rs17021918的CC基因型携带者可能与中国北方人PCa发病风险负关联;而rs10090154的T等位基因携带者可能与中国北方人PCa肿瘤分期正关联。
BACKGROUND & AIM: In recent years, genome-wide association studies have found many single nucleotide polymorphisms (SNPs) associated with the risk of prostate cancer (PCa) in different population studies. This article explored two SNPs, namely the association of rs17021918 (4q22) with rs10090154 (8q24) and Han Chinese PCa in northern China. Methods: A case-control study was conducted in 124 PCa patients and 111 healthy controls. Polymerase chain reaction-high-resolution melting curve (PCR-HRM) and sequencing validation were used to analyze the frequency of rs17021918 4q22) and rs10090154 (8q24) were used to analyze the frequency of genotype and allele and to explore the correlation between the genotype and allele frequency and body mass index (BMI), Gleason score, serum PSA level , Tumor staging and age and other clinical features. RESULTS: No statistically significant results were observed for rs17021918 in the risk alleles, genotypes, and stratifications, but the odds ratio (OR) was <1, with a BMI> 27.5 kg (P = 0.068; OR = 0.467; 95% CI: 0.204-1.069). The genotype CC carriers (P = 0.012; OR = 2.512; 95% CI: 1.210-5.214). However, at the higher level of PCa, there was a lower risk of PCa. In addition, the T allele of rs10090154 was associated with lower tumor stage Of the tumor staging group, T allele carriers and non-T allele carriers between the difference was statistically significant (P = 0.039). CONCLUSION: The carriers of CC genotype of Rs17021918 may be negatively associated with the risk of PCa in North China, while the T allele of rs10090154 may be positively correlated with the PCa of Chinese PCa in North China.