CDKN2A（P14ARF）肿瘤抑制基因中 SNP 与绝经后妇女子宫内膜癌的相关性。
Association of SNPs in CDKN2A (P14ARF) Tumour Suppressor Gene With Endometrial Cancer in Postmenopausal Women.
机构信息
Scientific Laboratory of the Center of Medical Laboratory Diagnostics and Screening, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland
Department of Obstetrics, Perinatology and Gynecology, Polish Mother's Memorial Hospital - Research Institute, Department of Gynecology and Obstetrics, Medical University of Lodz, Lodz, Poland.
出版信息
In Vivo. 2020 Mar-Apr;34(2):943-951. doi: 10.21873/invivo.11862.
BACKGROUND/AIM: This research was aimed to evaluate the association between three selected single nucleotide polymorphisms (SNPs) within the CDKN2A (P14ARF) tumour suppressor gene and the incidence of endometrial cancer (EC) in postmenopausal women.
PATIENTS AND METHODS
The study included 194 postmenopausal women; 144 with EC and 50 non-cancer controls. Genotypes in P14ARF rs3088440, rs3731217 and rs3731245 polymorphisms were assayed using PCR-RFLP and confirmed by sequencing.
RESULTS
Regarding the rs3088440 polymorphism, CT, and CT-TT genotypes, were more prevalent among EC patients than in controls (OR=5.55, p=0.023, OR=5.29, p=0.027; and OR=2.92, p=0.023, respectively). The T allele within rs3088440 was more prevalent in EC females than in controls (χ=4.7, p=0.030). Considering rs3731217, TG and TG-GG genotypes were less prevalent among EC (OR=0.34, p=0.024 or p=0.023; and OR=0.38, p=0.035, respectively).
CONCLUSION
Polymorphisms in the CDKN2A gene are associated with EC in postmenopausal women.
背景/目的：本研究旨在评估 CDKN2A（P14ARF）肿瘤抑制基因内三个选定的单核苷酸多态性（SNP）与绝经后妇女子宫内膜癌（EC）发病率之间的关联。
患者与方法
本研究纳入了 194 名绝经后妇女；其中 144 名患有 EC，50 名非癌症对照。使用 PCR-RFLP 检测 P14ARF rs3088440、rs3731217 和 rs3731245 多态性的基因型，并通过测序进行验证。
结果
关于 rs3088440 多态性，CT 和 CT-TT 基因型在 EC 患者中比在对照组中更为常见（OR=5.55，p=0.023，OR=5.29，p=0.027；OR=2.92，p=0.023）。rs3088440 中的 T 等位基因在 EC 女性中比在对照组中更为常见（χ=4.7，p=0.030）。考虑到 rs3731217，TG 和 TG-GG 基因型在 EC 中较为少见（OR=0.34，p=0.024 或 p=0.023；OR=0.38，p=0.035）。
结论
CDKN2A 基因的多态性与绝经后妇女的 EC 相关。
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