Association of BMP4 rs17563 Polymorphism with Nonsyndromic Cleft Lip with or without Cleft Palate Risk: Literature Review and Comprehensive Meta-Analysis.

BACKGROUND: Although published individual studies have reported associations between BMP4 rs17563 polymorphism and nonsyndromic cleft lip with or without cleft palate (NSCLP) risk, the results are conflicting. This meta-analysis was conducted to assess the association based on multiple studies. Methods: A comprehensive literature search up to October 1st, 2019 was performed using PubMed, Science Direct, China National Knowledge Infrastructure (CNKI), and Wanfang databases. Results: Fourteen case-control studies with 2,058 NSCLP cases and 2,557 controls were selected. There was no significant association between BMP4 rs17563 polymorphism and risk of NSCLP overall. Subgroup analysis revealed that BMP4 rs17563 polymorphism was associated with NSCLP risk in Chinese and Brazilian populations. Conclusions: This meta-analysis suggests that BMP4 rs17563 polymorphism was not associated with NSCLP risk in overall population. However, BMP4 rs17563 polymorphism may be a risk factor for development of NSCLP in Chinese and Brazilians.

Cumulative Evidence for Association between IL-10 Polymorphisms and Kawasaki Disease Susceptibility: A Systematic Review and Meta-Analysis.

BACKGROUND: This meta-analysis was carried out to evaluate the associations between IL-10 polymorphisms and Kawasaki disease (KD) risk. METHODS: A comprehensive literature search was performed using PubMed, EMBASE, China National Knowledge Infrastructure and SciELO for all relevant studies evaluating IL-10 polymorphism and susceptibility to KD. The associations were measured by odds ratios (ORs) and its corresponding 95% confidence intervals (CIs). RESULTS: A total of 13 studies including four studies on -1082 A > G, four studies on -819 T > C and five studies on -592 A > C polymorphism were selected. Pooled data revealed that IL-10 -592 A > C polymorphism was significantly associated with an increased risk of KD (C vs. A: OR = 0.402, 95% CI 0.194-0.832, p = 0.014). However, IL-10 -1082 A > G and -819 T > C polymorphisms were not significantly associated with risk of KD under all five genetic models. CONCLUSIONS: Our results revealed that IL-10 -592 A > C polymorphism was associated with risk of KD, while IL-10 -1082 A > G and -819 T > C polymorphisms were not involved in the development of KD.

Association of IL-6 -174G > C and -572G > C Polymorphisms with Risk of Legg-Calve-Perthes Disease in Iranian Children.

BACKGROUND: Legg-Calve-Perthes disease (LCPD) is an idiopathic avascular necrosis of the capital femoral epiphysis of the femoral head with multifactorial etiology. The aim of this study was to analyze the association of IL-6 polymorphisms with LCPD risk in Iranian children. Methods: The study comprised of 45 children diagnosed with LCPD and 60 healthy subjects. The IL-6 -174 G > C and -597 G > C polymorphisms were genotyped by PCR-RFLP assay. Odds ratios (OR) and 95% confidence intervals (CI) were calculated on the risk genotypes and alleles. Results: The mutant homozygote genotype (CC) of IL-6 -174 G > C polymorphism was associated with increased risk of LCPD (OR 3.554; 95% CI: 0.1.578-8.004; p = 0.002). There was no significant association between IL-6 -597 G > C polymorphism and an increased risk of LCPD. Conclusions: Our results suggest that the IL-6 -174 G > C but not the IL-6 -597 G > C polymorphism may increase LCPD susceptibility in Iranian children.

Association of MTHFR 677C > T, 1298A > C and MTR 2756A > G Polymorphisms with Susceptibility to Childhood Retinoblastoma: A Systematic Review and Met-Analysis.

BackgroundRecently, epidemiological studies investigating the association of MTHFR 677 C > T, 1298 A > C and MTR 2756 A > G polymorphism with retinoblastoma susceptibility reported controversial results. Methods: Data were collected from several electronic databases such as PubMed, EMBASE, and Google Scholar databases, with the last search up to December 05, 2019. Results: A total of eleven case-control studies including four studies with 324 cases and 490 controls on MTHFR 677 C > T, four studies with 324 cases and 490 controls on MTHFR 1298 A > C, and three studies with 283 cases and 485 controls on MTR 2756 A > G were selected. There was a significant association between MTHFR 677 C > T and MTR 2756 A > G polymorphisms and an increased risk of retinoblastoma. However, MTHFR 1298 A > C polymorphism was not significantly associated with risk of retinoblastoma. Conclusion: This meta-analysis demonstrated that MTHFR 677 C > T and MTR 2756 A > G polymorphisms might play important roles in the development of retinoblastoma. No association with MTHFR 1298 A > C polymorphism was observed.

Association of Axis Inhibition Protein 2 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in Iranian Children.

Background: Previously, only a few studies have investigated the association of AXIN2 polymorphisms with nonsyndromic cleft lip with or without cleft palate (NSCLP) risk. Objective: The aim of this study was to examine the association of rs2240308 C > T, rs1133683 C > T, and rs7224837 A > G polymorphisms of the AXIN2 gene with NSCLP risk in Iranian children. Methods: The study was comprised of 120 NSCLP cases and 120 controls. The AXIN2 polymorphisms were genotyped using PCR-RFLP assay. Results: The mutant homozygote genotype (TT) of AXIN2 rs1133683 C > T polymorphism was associated with increased risk of NSCLP. There was no significant association between rs2240308 C > T and rs7224837 A > G polymorphisms of the AXIN2 gene with an increased risk of NSCLP. Conclusion: This study indicates that AXIN2 rs1133683 C > T polymorphism may modify NSCLP susceptibility in the Iranian children, but not the rs2240308 C > T and rs7224837 A > G polymorphisms.