Significant relationship of combined ACP1/PTPN22 genotype variants with the growth of uterine leiomyomas

Abstract

Objective: To analyze the interaction between ACP₁ and PTPN22 concerning their effects on the growth of the tumor. In previous paper we have shown (i) that ACP₁*B/*B genotype of ACP₁ is negatively associated with the growth of leiomyomas and (ii) that there is a negative association of *C/*C genotype of PTPN22 with tumor growth.

Materials and methods: Two hundred and three White women from the population of Rome with symptomatic leiomyomas were recruited in the University of Rome Tor Vergata. All subjects gave consent for the participation in the study that was approved by the Council of Department. ACP₁ and PTPN22 genotypes were determined by DNA analysis.

Results: The proportion of women with small leiomyomas decreases with the decrease of the number of protective factors and it is 37.2% in women carrying the joint genotype ACP₁*B/*B-PTPN22 *C/*C (two protective factors) and 0% in women carrying no protective factors. Three way contingency table analysis by a log linear model has shown no evidence of epistatic interaction between the two genetic systems but a highly significant cooperative effect on the dimension of leiomyomas. There is a highly significant negative correlation between the number of protective factors and the dimension of leiomyomas with a minimum (cm 4.74) in women carrying the joint genotype ACP₁*B/B-PTPN22 *C/*C and a maximum (cm 7.25) in women carrying no protective factors.

Conclusion: The present study suggests a cooperative interaction between ACP₁ and PTPN22 concerning their effects on the growth of uterine leiomyomas. The determination of the genotype of the two systems may help to evaluate the risk of clinical manifestations of this common benign tumor.

Keywords: ACP(1); PTPN22; Uterine leiomyomas.