雌激素受体β的单核苷酸多态性与前列腺癌风险的相关性研究

目的研究雌激素受体β(ERβ)的单核苷酸多态性(SNPs)与前列腺癌(CaP)风险的相关性。方法对40例CaP患者和86例正常对照者利用直接测序法对ERβ基因中的4个SNPs(近端启动子上游的3个SNPsrs3829768,rs1271572,rs3841304和外显子7上的SNPsrs1256049)进行基因分型,分析单个位点的等位基因和基因频率是否与CaP相关。结果由于不符合HardyWeinberg平衡,SNP位点rs3841304被排除。发现在CaP患者中,近端启动子上游的SNPs位点rs3829768(A/G)的G和rs1271572(C/A)的A等位基因频率及其基因型频率均显著低于正常对照者(P<0.01)。结论ERβ基因近端启动子上游有2个SNPs与汉族CaP之间存在显著的相关性。

Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer

OBJECTIVE: This study was undertaken to investigate the relationship of some single nucleotide polymorphisms (SNPs) of estrogen receptor beta (ERbeta) with the risk of prostate cancer (CaP). METHODS: The allele, genotype distribution in an association study with case-control samples involving 40 CaP cases and 86 unrelated healthy male subjects was analyzed. In these individuals, three upstream regions of the proximal ER promoter SNPs (rs3829768, rs1271572, rs3841304) and exon 7 SNP (rs1256049) were analyzed by directly sequencing amplified PCR products of genomic DNA. RESULTS: Four polymorphisms were identified. The rs3841304 was excluded from further analysis because of significant deviation from the Hardy-Weinberg equilibrium. The genotype and allele frequency of rs3829768 (A/G) and rs1271572 (C/A) in the upstream region of proximal promoter were significantly decreased in the CaP cases versus control (P < 0.01). CONCLUSIONS: Our study suggests that this disease of interest is highly associated with rs3829768 (A/G) and rs1271572 (C/A) in CaP cases. CaP, prostate cancer; ERalpha, estrogen receptor alpha; ERbeta, estrogen receptor beta; SNP, Single nucleotide polymorphisms; betaERKO, ERbeta knockout; PIN, prostatic intraepithelial neoplasia; HWE, Hardy-Weinberg equilibrium; NRE, Negative Regulatory Element.