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

我们在p27基因5 '端非翻译区发现了一个单核苷酸多态性（SNP：T或C）。为了了解该SNP的重要性，我们进行了该SNP在自然流产中的基因分型。还通过免疫组织化学分析了绒毛上皮中的蛋白质表达。通过体外酶切/CAT分析比较2种不同SNP类型之间的mRNA表达。基因分型结果：C/C型26例，T/T型19例，T/C型50例。在对照人群中，C/C型25例，T/T型15例，T/C型39例。流产组与对照组比较差异无统计学意义。免疫组化结果显示：C/C型11例，2例，1例，分别为1+（弱阳性），2+（中等阳性），3+（强阳性）。T/T基因型1+ 4例，2+ 8例，3+ 6例。C/C和T/T之间蛋白表达的分布差异有统计学意义。体外分析显示T/T中的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和蛋白表达相关。

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.