P-199: Genetic Variation Analysis of MIF in Endometriosis Patients

Authors

  • Afsharian P
  • Chekini Z
  • Ramazanali F
  • Shiva M
Abstract:

Background: Macrophage migration inhibitory factor (MIF) is a key pro-inflammatory cytokine that is secreted by active macrophages accumulated in ectopic tissue of endometriosis. It involves in pathophysiological events of endometriosis such as angiogenesis, cell proliferation and it can stimulate the synthesis of PGE2 that are necessary for survival and establishment of ectopic endometriosis tissue. There are two polymorphisms in MIF promoter at positions -794 (CATT)5-8 and -173 (G/C) which both are related to promoter activity. Materials and Methods: Genomic DNA of 42 patients with endometriosis, who had undergone laparoscopy during 2012, and 50 unrelated controls women without endometriosis were amplified via PCR. Restriction fragment length polymorphism (RFLP) was applied to determine -173G/C polymorphism and -794 (CATT) 5-8 was detected by sequencing in all samples. Results: MIF -173G/C was identified in both patient and control groups, all probable genotypes (G/G, G/C and C/C) were observed in patients group, however G/G and G/C were only detected in control group. The distribution frequencies of G/G, G/C and C/C genotypes in patient group were 69, 10 and 21%, respectively, although in control group, frequencies of G/G, G/C were 78 and 22%, respectively, that were different. Detected number of -794 CATT repeats was 5-7 in our study. Homozygote of -794(CATT)5 only observed in control group (19%). Haplotype of -794(CATT) 5/-173G in control group was 92% and -794(CATT) 7/-173C in patient group was 50%. Conclusion: We report for the first time that endometriosis is associated with C/C genotype in -173 and -794(CATT) 7. Since homozygote of -794(CATT) 5 and -794(CATT) 5/-173G demonstrated in control samples thus low-expression of MIF is associated with healthy group. -794(CATT) 7/-173C was observed more frequently in patients group (50% vs. 31%). Therefore it seems that polymorphism of MIF promoter might be considered as an important factor in pathophysiology of endometriosis.

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Journal title

volume 7  issue 3

pages  114- 114

publication date 2013-09-01

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