Gene
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Cervical cancer (CC) is a common cancer threatens women's health worldwide. Circular RNAs (circRNAs) is critically involved in carcinogenesis of various cancers. This work aimed to explore the expression pattern, functions and mechanisms of hsa_circ_0001038 in CC. ⋯ Ectopic expression of hsa_circ_0001038 increased cell oncogenic properties. For mechanism investigation, hsa_circ_0001038 could sponge miR-337-3p to release its suppression on cyclin-M3 (CNNM3) and metastasis-associated in colon cancer 1 (MACC1), thereby promoting CC cell growth and invasive potential, respectively. In conclusion, hsa_circ_0001038 plays an oncogenic role in CC cells partly by activating CNNM3 and MACC1.
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Identification the genetic factors in preeclampsia (PE) are useful to increase the current knowledge of the pathophysiology of the disorder. The genetic factors implicated for all cases of PE remain to be determined. This study was aimed to investigate association between ADD1 1378G > T, AGTR2 1675G > A, AGTR1 1166A > C, NOS3 894 G > T and CYP11B2 -344C > T gene polymorphisms in Iranian women with PE. ⋯ Our results showed a significant association between CYP11B2 -344C > T gene polymorphism with PE. This finding suggests that mentioned polymorphism may be associated with susceptibility to PE at least in IRAN.
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Case Reports
Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome.
Alström syndrome (AS) is a rare monogenic multi-system ciliopathy disorder with cardinal features, including cone-rod dystrophy, sensory neural hearing loss, metabolic dysfunctions and multiple organ failure caused by bi-allelic mutations in a centrosomal basal body protein-coding gene known as ALMS1. This study aimed to identify pathogenic mutations in a consanguineous Iranian family with AS. Next-generation sequencing was performed on the genomic DNA obtained from a 12 years old girl with AS. ⋯ The clinically normal parents were heterozygous for both mutations. These mutations have a very rare frequency and only reported in the heterozygous state in the public genomic databases. Overall, due to the large size of the ALMS1 gene and clinical similarity with other ciliopathies and genetic disorders, whole exome sequencing can be useful for the identification of pathogenic mutations and the improvement of AS clinical management.
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Review Meta Analysis
Association between F+1 polymorphism in a disintegrin and metalloprotease 33 (ADAM33) gene and chronic obstructive pulmonary disease susceptibility: An evidence-based meta-analysis.
The F+1 (rs511898 G>A) polymorphism in a disintegrin and metalloprotease 33 (ADAM33) gene has been implicated in susceptibility of chronic obstruction pulmonary disease (COPD). However, a series of studies have reported inconclusive. The aim of this study is to explore the association between the F+1 (rs511898) of ADAM33 gene and COPD susceptibility by using the method of meta-analysis. ⋯ The ADAM33 F+1 mutant gene A may increase the risk of COPD among the Asian population, while it may not associate with the European population.
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Review Meta Analysis
Integrative data mining and meta-analysis to investigate the prognostic role of microRNA-200 family in various human malignant neoplasms: A consideration on heterogeneity.
Existing meta-analysis have shown that the miR-200 family can be taken as a prognostic biomarker for many tumors. However, great heterogeneity was shown in predicting overall survival (OS) and progression-free survival (PFS). Emerging studies indicate that the expression levels of members of the miR-200 family are tissue-specific among various tumor tissues, which may be the main reason of the heterogeneity in predicting survival prognosis of tumor patients with the miR-200 family as biomarkers. By further analysis of heterogeneity of the miR-200 family as a biomarker for predicting survival prognosis of patients with different tumors, we expected to provide an accurate basis for the clinical application of the miR-200 family to predict the prognosis of patients with different tumors. ⋯ Our results convincingly demonstrated that the miR-200 family could serve as a prognostic biomarker for cancers mentioned above and has potential value in clinical practice. MiR-200 family as prognostic biomarkers needs to be performed according to different tumor tissues and correlation between members in miR-200 family.