Background: Although many arguments have been raised on the role of heredity in the etiology of acne, the relevant genetic elements in the pathogenesis of the disease are not well established. Objective: The aim of our study was to evaluate the association between a genetic polymorphism in the promoter region of the CYP17 gene and the development of acne. Methods: 206 acne patients and 200 controls were included in the study. A polymerase chain reaction (PCR) sequencing technique was used to reveal a CYP17 gene polymorphism in its promoter region. A χ2 test was used for data analysis. Results: CYP17 –34T/C polymorphism was found and the frequency distribution of the C/C homozygotes and C allele in the male patients with severe acne (33.3 and 60.9%, respectively) were statistically significantly different from those of the control samples (18.2 and 46.6%; p < 0.05). No significant difference was observed between the female patients, mild + moderate male patients and their controls, respectively. Conclusion: The CYP17 –34C/C homozygote Chinese men are at a significantly increased risk of developing severe acne.
Patients with NSCLC and EGFR exon 19 deletion had a longer PFS, OS and higher response rates after EGFR-TKI therapy compared with exon 21 L858R mutation.
Objectives MTHFR C677T and A1298C have been associated with the risk of preeclampsia (PE), but with conflicting results. We performed this meta-analysis to derive a more precise estimation of the association between MTHFR polymorphisms and PE. Study design An electronic search of PubMed and Chinese Biomedicine database was conducted to select studies for meta-analysis. 54 case controlled studies containing MTHFR C677T and A1298C gene polymorphisms were chosen, and odds ratio (OR) with confidence interval (CI) was used to assess the strength of this association. Result These studies evaluated 7398 cases and 11230 controls for MTHFR C677T. The overall results suggested that MTHFR C677T was associated with the risk of PE. (T vs. C: OR = 1.157, 95 % CI: 1.057-1.266, p=0.002; TT+CT vs. CC: OR=1.165, 95 % CI 1.049-1.293, P = 0.004; TT vs. CT + CC: OR = 1.371, 95 % CI: 1.153-1.63, p < 0.001). We also evaluated 1103 cases and 988 controls for MTHFR A1298C but could not demonstrate an increased risk of PE for this polymorphism (p=0.667). A symmetric funnel plot, the Egger's test (p = 0.819) suggested a lack of publication bias.
ConclusionThis meta-analysis supports the idea that MTHFR C677T genotype is associated with increased risk for PE, especially in the case of Asians and Caucasians.
Purpose
Breast cancer is the most frequently diagnosed malignancy in women worldwide. MicroRNAs (miRNAs) are thought to serve as potential biomarkers in various cancers, including breast cancer.
Methods
We evaluated the miRNA expression profiles in 1,083 breast cancer samples and 104 normal breast tissues from The Cancer Genome Atlas database. We used the edgeR package of R software to analyze the differentially expressed miRNAs in normal and cancer tissues, and screened survival-related miRNAs by Kaplan-Meier analysis. A receiver operating characteristic curve was generated to evaluate the accuracy of these miRNAs as molecular markers for breast cancer diagnosis. Furthermore, the functional role of these miRNAs was verified using cell experiments. Targets of candidate miRNAs were predicted using 9 online databases, and Gene Ontology (GO) functional annotation and pathway analyses were conducted using Database for Annotation, Visualization and Integrated Discovery online tool.
Results
A total of 68 miRNAs showed significantly different expression patterns between the groups (
p
< 0.001), and 13 of these miRNAs were significantly associated with poor survival (
p
< 0.05). Three miRNAs with high specificity and sensitivity, namely, miR-148b-3p, miR-190b, and miR-429, were selected.
In vitro
experiments showed that the overexpression of these 3 miRNAs significantly promoted the proliferation and migration of MDA-MB-468 and T47D cells and reduced the apoptosis of T47D cells. GO and pathway enrichment analyses revealed that the targets of these dysregulated miRNAs were involved in many critical cancer-related biological processes and pathways.
Conclusion
The miR-148b-3p, miR-190b, and miR-429 may serve as potential diagnostic and prognostic markers for breast cancer. This study demonstrated the roles of these 3 miRNAs in the initiation and progression of breast cancer.
Long non-coding RNAs have been reported to play an important role in cellular metabolism and development. Homeobox transcript antisense intergenic RNA (HOTAIR), a long non-coding RNA, is pervasively over-expressed in most human cancers compared with non-cancerous adjacent tissues. Although many articles have reported that HOTAIR is closely associated with metastasis, epithelial-mesenchymal transition, advanced pathological stage, drug resistance, and poor prognosis, the role of HOTAIR in gene regulation and tumor development is largely unknown, and the potential molecular mechanisms are not completely clear yet. In this review, we summarized the recent progress in the study of the major functions of HOTAIR. miR-331-3p, miR-130a, miR-7, miR-141, HER2, c-MYC, WIF-1, RBM38, PTEN, and Col-1 are involved in the HOTAIR regulation network. We tried to elucidate the molecular mechanisms of HOTAIR in the aspects of tumorigenesis, metastasis, drug resistance, and regulation.
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