Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Institute of Clinical Pharmacology, Central South University and Hunan Key Laboratory of Pharmacogenetics, Changsha 410078, PR China; Engineering Research Center of Applied Technology of Pharmacogenomics, Ministry of Education, Changsha 410078, PR China; National Clinical Research Center for Geriatric Disorders, Changsha 410078, PR China.
Department of Anesthesiology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510289, PR China.
Genomics. 2020 May;112(3):2510-2515. doi: 10.1016/j.ygeno.2020.02.002. Epub 2020 Feb 8.
To investigate the association between SNPs in human IGF2/H19 gene locus and epithelial ovarian cancer (EOC) risk, we performed a case-control study in 422 individuals (219 EOC patients and 203 cancer-free controls). Four SNPs (rs2525885, rs2839698, rs3741206, rs3741219) were found to be related with EOC risk. Specifically, the minor allele C of rs2525885 and allele A of rs2839698 was associated with elevated EOC genetic susceptibility under both dominant and recessive models (TC + CC vs TT: adjusted OR: 1.61, P = .031; CC vs TT + TC: adjusted OR: 4.87, P = .014; GA + AA vs GG: adjusted OR: 1.63, P = .023; AA vs GG + GA: adjusted OR: 2.43, P = .007). For rs3741206, the genotype TC + CC was associated with a significant decrease in EOC risk with the TT genotype as reference in a dominant genetic model (adjusted OR: 0.44, P = .003), while for rs3741219, genotype AA was associated with a 59% decrease in EOC risk only in the recessive model (adjusted OR: 0.41, P = .038). In the stratified analysis, an increased risk associated with the variant genotypes was observed in only subjects aged >47 years for rs2525885 (adjusted OR = 2.04, P = .024), rs2839698 (adjusted OR = 2.50, P = .047) and rs3741206 (adjusted OR = 0.37, P = .009), respectively. What's more, the TC + CC genotype of rs2525885 was significantly associated with advanced FIGO stage (III vs II, adjusted OR = 2.73, P = .040).
为了研究人类 IGF2/H19 基因座 SNP 与上皮性卵巢癌（EOC）风险之间的关联，我们在 422 名个体（219 名 EOC 患者和 203 名无癌对照）中进行了病例对照研究。发现 4 个 SNP（rs2525885、rs2839698、rs3741206、rs3741219）与 EOC 风险相关。具体来说，rs2525885 的次要等位基因 C 和 rs2839698 的等位基因 A 在显性和隐性模型下均与升高的 EOC 遗传易感性相关（TC+CC 与 TT：调整后的 OR：1.61，P=0.031；CC 与 TT+TC：调整后的 OR：4.87，P=0.014；GA+AA 与 GG：调整后的 OR：1.63，P=0.023；AA 与 GG+GA：调整后的 OR：2.43，P=0.007）。对于 rs3741206，TC+CC 基因型与 TT 基因型相比，在显性遗传模型中 EOC 风险显著降低（调整后的 OR：0.44，P=0.003），而对于 rs3741219，只有在隐性模型中，AA 基因型与 EOC 风险降低 59%相关（调整后的 OR：0.41，P=0.038）。在分层分析中，仅在年龄>47 岁的受试者中观察到与变异基因型相关的风险增加，rs2525885（调整后的 OR=2.04，P=0.024）、rs2839698（调整后的 OR=2.50，P=0.047）和 rs3741206（调整后的 OR=0.37，P=0.009）。此外，rs2525885 的 TC+CC 基因型与 FIGO 晚期（III 期与 II 期）显著相关（调整后的 OR=2.73，P=0.040）。
