ABSTRACT
Background: Recurrent pregnancy loss [RPL] is defined as two or more miscarriages before the 20[th] week of gestation and its etiology is unknown in 50% of the cases. Interleukin 6 is an immune mediator, plays a regulatory role in embryo implantation and placental development
Objective: The purpose was to assess the association between IL-6 -634C/G polymorphism and, susceptibility to idiopathic RPL for the first time in Iran
Materials and Methods: In total 121 women with RPL and 121 healthy women as control group were enrolled in this case-control study. This study was performed from August 2013 to October 2014 in the Molecular Genetics Laboratory of Arsanjan University. Candidate polymorphism was evaluated by PCR-RFLP method on extracted genomic DNA. Data was analyzed using the statistical SPSS package
Results: Our results showed an increased risk of RPL in patients with GG + GC genotype [OR=5.1, 95%CI: 1.04-25.3, p=0.04] in comparison to CC genotype. The frequency of mutant allele G in patients and controls was 0.75 and 0.66 respectively. The mutant allele G predisposes women to miscarriage 1.5 times greater than controls [OR=1.5, 95%CI: 1.03-2.27, p=0.036]. The mean number of live births in RPL women [1.3 +/- 2.3] was significantly lower compared to control women [4.8 +/- 2.3]
Conclusion: This study indicated that the promoter polymorphism [-634C/G] of the IL-6 gene has likely influence on individual susceptibility to RPL
ABSTRACT
Leptin is an adipokine made by fat cells and plays a key role in proliferation, cell survival, migration and immune response. Several studies have suggested that individuals with high serum leptin concentrations would increase the risk of breast cancer. G -2548A polymorphism in the leptin gene is located in the promoter region and is associated with the change of leptin serum level. In this study, the association between G -2548A polymorphism in leptin gene and breast cancer susceptibility was investigated. This case-control study was done on 374 Iranian women. This study was performed from March 2013 to February 2013. Blood samples from 203 women with breast cancer and 171 age [ +/- 5]- matched healthy women were collected. Breast cancer patients were selected from Namazi Hospital in Shiraz city. Genomic DNA was extracted from blood samples. The G -2548A polymorphism of leptin gene was determined using polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] method. Data analysis was performed by SPSS version 18. Logistic regression analysis was used for association of breast cancer susceptibility and G -2548A polymorphism of leptin gene. The A allele frequency was 60% in control group and 72% in breast cancer patients. There was a significant association between A allele in -2548 position of leptin gene and breast cancer susceptibility [OR: 1.8, 95% CI: 1.3-2.4, P<0.001]. In the recessive effect of the A allele [comparison between AA vs. AG+GG], AA genotype in - 2548 region of leptin promoter sequence was significantly increased the risk of breast cancer [OR=2.2, 95% CI: 1.5-3.4, P<0.001]. It is concluded that A allele in the -2548 promoter region of leptin gene may act as a recessive allele and increase the breast cancer risk