Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, China.
Department of Clinical laboratory, The Affiliated Hospital of Xizang Minzu University, Xianyang, Shaanxi, China.
Mol Genet Genomic Med. 2019 Nov;7(11):e966. doi: 10.1002/mgg3.966. Epub 2019 Sep 5.
Kidney cancer is the predominant form of malignancy of the kidney and accounts for approximately 3%-4% of all cancers. Renal cell cancer (RCC) represents more than 85% of kidney cancer. It has been reported that genetic factors may predispose individuals to RCC. This study evaluated the association between Acylphosphatase 2 (ACYP2) gene polymorphisms and RCC risk in the Han Chinese population.
Twelve single-nucleotide polymorphisms (SNPs) in ACYP2 were genotyped using the Agena MassARRAY platform from 293 RCC patients and 495 controls. The Chi-squared test, genetic models, haplotype, and stratification analyses were used to evaluate the association between SNPs and the risk of RCC. The relative risk was estimated using the odds ratio (OR) and 95% confidence interval (CI).
We observed that the rs6713088 allele G (OR = 1.26, 95% CI: 1.03-1.53, p = .023) and rs843711 allele T (OR = 1.29, 95% CI: 1.06-1.57, p = .010) were associated with increased RCC risk. Genetic model analyses found that rs843711 was significantly associated with an increased RCC risk under the recessive model and log-additive model after adjusting for age and gender. Haplotype analysis showed that the haplotype "TTCTCGCC" (OR = 0.67, 95% CI: 0.48-0.94, p = .021) was associated with a decreased risk of RCC in the Han Chinese population. Stratification analysis also found that rs6713088 and rs843711 were significantly associated with increased RCC risk.
In summary, the results suggested that ACYP2 polymorphisms could be used as a genetic marker for RCC. Additional functional and association studies are required to validate our results.
肾癌是肾脏恶性肿瘤的主要形式，约占所有癌症的 3%-4%。肾细胞癌（RCC）占肾癌的 85%以上。据报道，遗传因素可能使个体易患 RCC。本研究评估了酰基磷酸酶 2（ACYP2）基因多态性与汉族人群 RCC 风险的关系。
使用 Agena MassARRAY 平台对 293 例 RCC 患者和 495 例对照者的 ACYP2 中的 12 个单核苷酸多态性（SNP）进行基因分型。采用卡方检验、遗传模型、单体型和分层分析来评估 SNP 与 RCC 风险之间的关系。采用比值比（OR）和 95%置信区间（CI）来估计相对风险。
我们观察到 rs6713088 等位基因 G（OR=1.26，95%CI：1.03-1.53，p=0.023）和 rs843711 等位基因 T（OR=1.29，95%CI：1.06-1.57，p=0.010）与 RCC 风险增加相关。遗传模型分析发现，在调整年龄和性别后，rs843711 与隐性模型和对数相加模型下的 RCC 风险增加显著相关。单体型分析显示，单体型“TTCTCGCC”（OR=0.67，95%CI：0.48-0.94，p=0.021）与汉族人群 RCC 风险降低相关。分层分析也发现 rs6713088 和 rs843711 与 RCC 风险增加显著相关。
总之，研究结果表明 ACYP2 多态性可作为 RCC 的遗传标志物。需要进一步的功能和关联研究来验证我们的结果。
