Introduction: This research aimed to determine the association of the combination of H. pylori infection and TP53 codon 72 polymorphism with non-cardia gastric cancer (GC) in Vietnam.
Methodology: A total of 164 patients with non-cardia GC and 164 patients with peptic ulcer disease or functional dyspepsia in controls matched by sex and age were enrolled. H. pylori infection was diagnosed by rapid urease test and polymerase chain reaction (PCR). The cagA gene-positivity and vacA sm subtypes were determined by multiplex PCR. Genotypes of TP53 codon 72 polymorphism were determined by PCR-restriction fragment length polymorphism.
Results: The prevalence of H. pylori infection in GC and control group were 61.6% and 55.4%, respectively. The rates of cagA-positive strains in the two H. pylori-positive groups were 80.2% and 71.4%, respectively. There was no statistically significant difference in TP53 codon 72 genotype distribution between GC group (frequencies of Arg/Arg, Arg/Pro and Pro/Pro genotypes were 31.1%, 43.3% and 25.6%, respectively) and controls (29.3%, 52.4% and 18.3%, respectively), p = 0.172. The significant difference in genotype distribution was observed in recessive model (Pro/Pro vs Arg/Arg + Arg/Pro) when stratifying by H. pylori infection (OR = 2.02, 95% CI 1.03–3.96, p = 0.041) and by cagA-positivity (OR = 2.33, 95% CI 1.07–5.07, p = 0.032).
Conclusions: This study suggests a synergistic interaction between H. pylori infection, especially cagA-positive H. pylori, and Pro/Pro genotype of TP53 codon 72 polymorphism might play a significant role in the pathogenesis of GC in the Vietnamese population.
The disruption of methyl‐binding domain protein 5 (MBD5) gene has been determined as a significant cause of a group of disorders known as MBD5‐associated neurodevelopmental disorder. Here, we report a novel pathogenic mutation, NM_001378120.1 (MBD5): c.217‐1G>C, occurring at the acceptor splicing site of intron 6 of the MBD5 gene identified in a Vietnamese child with intellectual disability, autistic‐like behaviors, and seizure. Phenotypic manifestations in this patient are highlighted with neurodevelopmental impairments whereas his facial dysmorphism is unremarkable. Our finding has enriched the understanding of the spectrum of MBD5 variants, a critical database for diagnosis, genetic counseling, and management of the patients with neurological diseases.
Background: Recurrent pregnancy loss is a major concern in gynecology. Recently, many papers have showed the role of genetic factors in etiology of recurrent pregnancy loss. Several published studied revealed that C677T polymorphism is a high risk of recurrent pregnancy loss. However, this finding is still controversy. Therefore, this study is aimed at investigating the association of C677T polymorphisms of MTHFR gene with recurrent pregnancy loss in Vietnamese woman.
Methods: Study subjects comprised 100 healthy women (control group) and 52 women with recurrent pregnancy loss. C677T polymorphisms were identified by PCR-technique.
Results: The frequency of 677CC, 677CT, and 677TT genotypes in Vietnamese women with recurrent pregnancy loss is 65.4%, 30.8%, 3.8%, respectively; while the distribution of those genotypes in the control-group is 86%, 12%, và 2% (χ2 = 8.83; p = 0.012). Statistic analysis revealed that MTHFR C677T polymorphismsare associated with recurrent pregnancy loss (for CT vs. CC: OR= 3.37, 95%CI: 1.44 – 7.87, p = 0.0049; for (677CT + 677TT) vs. CC: OR= 3.25, 95%CI: 1.46 – 7.26, p = 0.004; for T vs. C: OR= 2.74, 95%CI:1.55 – 5.55, p = 0.005).
Key words: Recurrent pregnancy loss, C677T polymorphisms, MTHFR gene
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