Objective The aim of the study was to quantitatively assess the association of metallothionein 2A ( MT2A) polymorphisms rs28366003 and rs1610216 with cancer risk. Methods Crude odd ratios (OR) with 95% confidence intervals (CI) were used to estimate associations of the polymorphisms with cancer risk. Results Six eligible case-control studies with 1899 cases and 2437 controls focused on rs28366003, and three of those six studies, with 548 cases and 926 controls, additionally focused on rs1610216. Pooled analysis showed that MT2A rs28366003 and rs1610216 were associated with cancer risk: (AG + GG) vs. AA, OR = 2.67; GG vs. (AG + AA), OR = 5.97; GG vs. AA, OR = 6.80; AG vs. AA, OR = 2.46; G vs. A, OR = 2.67 for rs28366003; and CC vs. (TC+TT), OR = 2.51; CC vs. TT, OR = 2.42 for rs1610216. Subgroup analysis based on ethnicity showed a significant association of rs28366003 with cancer risk in Asian and Caucasian populations. However, a significant association of rs1610216 with cancer risk was found only in the Asian population. Conclusion MT2A rs28366003 and rs1610216 polymorphisms were associated with cancer risk and might serve as genetic biomarkers for predicting cancer risk. However, larger studies are needed to confirm these findings.
Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alterations is required for accurate diagnosis of BWS. Case presentation: We reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The genetic analysis showed a de novo duplication of 24 Mb at 11p15.5p14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5 (three copies) at 11p15. The duplication of paternal origin with increase of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1. Conclusion Combined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.
BackgroundMolecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome(BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An accurate diagnosis of BWS requires a complete molecular method to analyze epigenetic changes.Case presentationWe reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The genetic analysis showed a de nove duplication of 24 Mb at 11p15.5-14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5(three copies) at 11p15. The duplication of paternal origin withincrease of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1.ConclusionCombined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.
Background: Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome(BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alterations is required for accurate diagnosis of BWS.Case presentation: We reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS‑MLPA). The genetic analysis showed a de novo duplication of 24 Mb at 11p15.5p14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5(three copies) at 11p15. The duplication of paternal origin with increase of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1. Conclusion: Combined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.
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