Vascular endothelial growth factor (-460 C/T, +405 G/C, and +936 C/T) polymorphisms and endometriosis risk in Tunisian population.

The vascular endothelial growth factor (VEGF), a major angiogenic factor, is known to play an important role in the development of endometriosis. The aim of this study was to investigate the association of three VEGF (-460 C/T, +405 G/C, and +936 C/T) polymorphisms with the risk of endometriosis in the Tunisian population. This study includes 105 women with endometriosis and 150 women with no laparoscopic evidence of disease. Genotyping of the VEGF -460 C/T, +405 G/C, and +936 C/T polymorphisms were performed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). The distribution of genotypes (P = 0.006) and allele (P = 0.0009) frequencies of the +936 C/T polymorphism was significantly different between patients and controls. Patients with stages III-IV endometriosis showed a higher VEGF + 936T allele frequency than controls (P = 0.0001). However, the distribution of genotypes and allele frequencies of the VEGF -460 C/T and +405 G/C polymorphisms did not differ significantly between endometriosis patients and controls. These findings suggest that the VEGF +936 C/T polymorphism may be a risk factor for endometriosis development and the VEGF +936 T allele is associated with an increased risk of stages III-IV endometriosis in the Tunisian population.

Association of MMP-9 gene polymorphisms with Behçet's disease risk.

The human matrix metalloproteinases (MMPs) are importantly involved in aneurysm formation. Since the clinical manifestations in Behçet disease (BD) include aneurysm formation among major symptoms, polymorphisms in MMP-9 might be associated with BD susceptibility. The aim of the current case-control study was to investigate the association of four single nucleotide polymorphisms (SNPs) in MMP-9 gene: -1562 C/T, 2003 G/A (R668Q), 836 A/G (Q279R) and 1721 C/G (R574P) with BD risk in the Tunisian population. The distribution of MMP-9 gene polymorphisms was analyzed by polymerase chain-reaction (PCR) and restriction fragment length polymorphism (RFLP) for 240 BD patients and 288 controls. Our study indicated that the MMP-9 -1562 C/T polymorphism (rs3918242) was not associated with BD risk. We found a significant association of the MMP-9 2003 G/A (rs17577) with an increased susceptibility to BD. However, the MMP-9 1721 C/G polymorphism (rs2250889) had a protective role against the development of BD. Subgroup analysis based on stratification by gender revealed that the MMP-9 2003 G/A polymorphism was associated with a highly significant BD risk in women's group (G vs. A: P=0.0000001). However, the MMP-9 836 A/G polymorphism had a protective role in men's group (G vs. A: P=0.00043). The MMP-9 1721 C/G polymorphism was associated with a protective effect in both men and women groups (CG+GG vs. CC: P=0.04 and P=0.0002, respectively). The haplotype analysis did not show any association with BD risk. A significant difference in the MMP-9 serum levels were observed in the patient subgroup with ocular lesions manifestations.

Association of Toll like receptor Asp299Gly with rheumatoid arthritis risk: a systematic review of case-control studies and meta-analysis.

OBJECTIVE: Rheumatoid arthritis (RA) is thought to be triggered by various genetic and environmental factors. Few human epidemiologic studies demonstrated that single nucleotide polymorphisms (SNPs) in Toll-like receptor (TLR) genes are associated with RA. We aimed to evaluate the effects of TLR polymorphisms on the risk of RA pathogenesis by using a meta-analysis approach. METHODS: Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines, a systematic search and meta-analysis of the literature was conducted. We screened the medical literature based on keywords search in MEDLINE and EMBASE 'Toll-like receptor', 'polymorphism', and rheumatoid arthritis. Meta-analyses were performed under the random-effects model by using: (1) recessive, (2) homozygous, (3) dominant, (4) codominant and allele contrast models. RESULTS: A total of 3086 cases and 3756 controls in nine studies were included in the meta-analysis. Association between TLR4 Asp299Gly and RA risk was marginally significant [OR = 0.856 (95% CI, 0.716-1.022); P = 0.086] in the homozygous model. AA and GG homozygote genotypes tended to be significant protective factors against RA risk. CONCLUSION: Our overall analyses indicated that TLR4 Asp299Gly polymorphism might contribute to RA pathogenesis.