Association of XRCC1 Arg399GIn and Tp53 Arg72Pro polymorphisms and increased risk of uterine leiomyoma - A case-control study.

Minoo Yaghmaei,Saeedeh Salimi,Lida Namazi,Farzaneh Farajian-Mashhadi

doi:10.1590/s1415-475738420140359

Abstract

The aim of present study was to investigate the role of the X-ray repair cross-complementing protein1 (XRCC1) and Tumor protein p53 (Tp53) polymorphisms in Uterine Leiomyoma (UL) susceptibility in southeastern Iran. This case control study was performed on 139 women with UL and 149 age, BMI and ethnicity matched healthy women. All women were genotyped for the XRCC1 Arg399Gln, XRCC1 Arg194Trp and Tp53 Arg72Pro polymorphisms. The frequency of Tp53 72 Pro/Pro genotype was significantly higher in UL women compared to controls. The risk of UL was 1.5 fold higher in women with the Pro/Pro genotype (OR, 1.5 [95% CI, 1.1 to 2.1], p = 0.012). Moreover, the frequency of the Pro allele was significantly higher in the UL women. Although the frequency of XRCC1 Arg399Gln genotypes did not significantly differ between UL and control groups before adjusting for age, there was an association between the XRCC1 Arg/Gln genotype and UL after adjusting for age (OR, 1.8 [95% CI, 1.1 to 3]). No association was observed between the XRCC1 Arg194Trp polymorphism and UL. The Pro/Pro genotype of Tp53 Arg72Pro polymorphism was associated with UL susceptibility. In addition, the XRCC1 Arg/Gln genotype was associated with increased risk of UL after adjusting for age.

Highlights

Uterine leiomyoma (UL) is a benign neoplasm of the uterine smooth muscle and is originated from the myometrium
The present study revealed that the Pro/Pro genotype of the Tumor protein p53 (Tp53) Arg72Pro polymorphism was associated with higher risk of uterine leiomyoma compared to the agarose gels. The G (Arg)/Arg genotype, and the frequency of the Pro allele was significantly higher in UL women
There was no association between the X-ray repair cross-complementing protein1 (XRCC1) Arg/Gln genotype and UL before adjusting for age, we found an association between Arg/Gln genotype and UL after adjusting for age

Summary

Introduction

Uterine leiomyoma (UL) is a benign neoplasm of the uterine smooth muscle and is originated from the myometrium. ULs are the most common solid tumors of the uterus and pelvis, afflicting 20-25% of women (Hoffman et al, 2012), and are a common condition with various complications, such as abnormal uterine hemorrhage, pressure on adjacent viscera, and even negative effects on reproduction (Haney, 2000). Nulliparity, and obesity are other predisposing factors for this complication (Flake et al, 2003). Estrogen and Progesterone are growth promoters of UL and probably exert their effects through growth factors that are elevated in uterine leiomyoma (Parker, 2007). Atypical and large leiomyoma commonly accompanied with chromosomal abnormalities and a positive relationship between cytogenetic anomalies and UL location has been reported. Genetic factors could play an important role in UL susceptibility (Medikare et al, 2011; Parker, 2007)

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