Allergy and Uterine Leiomyomas: Cooperative Interaction with ACP1 Genetic Polymorphism.

Background: The possible association between allergy and neoplastic disorders has been the subject of many investigations but no general relationship has been determined. Little attention, however, has been paid to the possible role of allergy in the clinical manifestations of these diseases. In this study, the role of allergy in the susceptibility to uterine leiomyomas and in their growth was investigated.

Genetic variability within Adenosine Deaminase gene and uterine leiomyomas.

Objective: The recent observation of an association of colon cancer with two polymorphic sites within the Adenosine Deaminase (ADA) gene suggests an involvement of these polymorphisms in the development of solid tumors. This prompted us to search for a similar association in uterine leiomyomas.

Study Design: We have studied 181 women admitted to the hospital for leiomyomas requiring surgical intervention and 248 women of comparable age without clinical signs of leiomyomas.

The effect of ACP1, ADA6 and PTPN22 genetic polymorphisms on the association between p53 codon 72 polymorphism and endometriosis.

Purpose: Association between p53 codon 72 and endometriosis has been observed in populations of East Asia but not in those of European descent. Genetic polymorphisms could interact with p53 codon 72 influencing its association with endometriosis, thus explaining these differences among populations.

Methods: 130 women hospitalized for endometriosis and a sample of 250 women without endometriosis have been studied.

PTPN22 and uterine leiomyomas.

Objective: It has been suggested that the development of uterine leiomyomas is positively influenced by an immune system in a chronically inflammatory state and that a lower level of regulating T cell (Treg cells) would play a central role. Since it has been suggested that the W620 variant of protein tyrosine phosphatase non-receptor type 22 (PTPN22) decreases the number of Treg cells, we investigated a possible relationship between PTPN22 polymorphism and uterine leiomyomas.

Study Design: We studied 203 white women from Rome who were hospitalized for symptomatic leiomyomas requiring surgical intervention.

Is there an association between uterine leiomyomas and acid phosphatase locus 1 polymorphism?

Objective: Platelet derived growth factor (PDGF) is involved in the development of leiomyomas. The low-molecular-weight phosphoprotein-tyrosine-phosphatase (LMWPTP), controlled by the highly polymorphic acid phosphatase locus 1 (ACP1), is able to dephosphorylate the PDGF receptor. Therefore, we searched for a possible association between ACP1 and leiomyomas.

Acid phosphatase locus 1 genetic polymorphism, endometriosis, and allergy.

Recent studies suggest that acid phosphatase locus 1 (ACP1) could be involved in T-cell antigen receptor signaling and in immune disorders. The present study shows that the ACP1( *)C allele, which is associated with elevated enzymatic activity, is significantly more common in women with endometriosis than in healthy women, but is less common in allergic than in nonallergic subjects. These findings suggest that carriers of high activity ACP1 genotypes are more susceptible to endometriosis but less susceptible to allergic manifestations than carriers of other ACP1 genotypes.

Association of p53 codon 72 polymorphism with endometriosis.

Objective: To study the association of endometriosis with p53 codon 72 polymorphism in the population of central Italy and to search for possible interaction with the PTPN22 polymorphism.

Design: Study of p53 and PTPN22 polymorphisms in women with endometriosis. Analysis of PTPN22 genotype distribution in relation to p53 genotypes.

Association between PTPN22 and endometriosis.

PTPN22 is currently one of the few known shared-autoimmunity genes and is therefore a candidate marker for endometriosis. Our data show that female carriers of the PTPN22( *)T variant are significantly more susceptible to endometriosis than controls.