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

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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.