SNP analysis of the 5'-UTR in the p27 Gene in Spontaneous abortion and Hydatidiform mole: Risk Assessment and Comparison between Ethnic Groups

自然流产和葡萄胎p27基因5-UTR的SNP分析：风险评估和族群比较

• 批准号: 13671750
• 负责人: TAKAHASHI Hiroyuki
• 金额: $ 2.3万
• 依托单位: Jikei University School of Medicine
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2001
• 资助国家: 日本
• 起止时间: 2001 至 2002
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-13671750/
• 关键词: spontaneous abortion; p27gene; single nucleotide polymorphism; 前立腺癌; 一塩基多型

We found a single nucleotide polymorphism (SNP: T or C) in 5'-untranslated region of the p27 gene. To know the importance of this SNP, we conducted genotyping of this SNP in sprontaneous abortion. Protein expression was also analyzed in villous epithelium by immunohistochemistry. mRNA expression was compared between 2 different SNP types by in vitro luciferace/CAT assay. Genotyping revealed that 26 cases showing C/C, 19 showing T/T and 50 showing T/C respectively. In control population, the distribution was 25 in C/C, 15 in T/T and 39 in T/C, respectively. No statistical significance was shown between abortion cases and control. Immunohistochemistry revealed that protein expressions in C/C type fetus were 1+ (weakly positive) in 11 cases, 2+ (intermediate) in 6, and 3+ (strongly positive) in 1, respectively. Reversely, those in T/T genotype were 1+in 4 cases, 2+ in 8, and 3+ in 6, respectively. Differences in distribution of protein expressions were statistically significant between C/C and T/T. In vitro analysis revealed that mRNA expression was higher in T/T than in C/C. From these data, this SNP is not an important risk factor in spontaneous abortion, although this SNP seems to be associated with mRNA and protein expression of p27.

我们在p27基因的5‘非翻译区发现了单核苷酸多态性(SNP：T或C)。为了了解该SNP的重要性，我们对该SNP在自然流产中的基因分型进行了研究。免疫组织化学方法检测绒毛上皮细胞的蛋白表达。用体外荧光素/CAT法比较了两种不同类型SNP的基因表达。基因分型显示C/C 26例，T/T 19例，T/C 50例。对照人群中，C/C为25个，T/T为15个，T/C为39个。流产组与对照组比较差异无统计学意义。免疫组织化学结果显示，C/C型胎儿蛋白表达为1+(弱阳性)11例，2+(中度阳性)6例，3+(强阳性)1例。T/T型分别为1+4例、2+8例、3+6例。C/C和T/T在蛋白表达分布上的差异有统计学意义。体外分析显示，T/T的mRNA表达高于C/C。从这些数据来看，该SNP不是自然流产的重要危险因素，尽管该SNP似乎与p27的mRNA和蛋白表达有关。