[Investigation of a family with Kennedy disease by genetic analysis].

OBJECTIVE: To report on a Chinese family from Wenzhou with genetically confirmed Kennedy disease and describe its clinical and genetic features. METHODS: The clinical phenotype and the level of relevant biochemical markers were assessed. To determine the number of CAG repeats in the exon 1 of androgen receptor (AR) gene, genomic DNA was extracted from peripheral blood samples of the family members, amplified by PCR and identified by DNA sequencing. RESULTS: The proband showed predominantly proximal limb weakness, fasciculation, muscle atrophy, gynecomastia, sexual dysfunction and increased serum creatine kinase. Myopathy and neuropathy were identified by electromyography. Two other affected males and 2 affected female carriers were identified to carry an expanded CAG repeat in the AR gene. The numbers of CAG repeats were found to be 43 in the proband, 43 and 42 in the other two affected males, one of which had similar clinical symptoms to the proband. CONCLUSION: The family was diagnosed with Kennedy disease by analysis of the AR gene.

The -590C/T polymorphism in the IL-4 gene and the risk of cancer: a meta-analysis.

Interleukin-4 (IL-4) plays an important role in the pathogenesis of cancer. The -590C/T polymorphism in the IL-4 gene has been implicated in susceptibility to cancer, but the results have been inconclusive. The aim of this study was to analyze the association between this polymorphism with the risk of cancer by meta-analysis. PubMed, Embase, CNKI, and Wanfang databases were searched for all publications concerning the association between this polymorphism and cancer risk. Statistical analyses were analyzed by using RevMan 4.2 and STATA10.0 softwares. A total of 8,715 cases and 9,532 controls in 23 case-control studies were included. The results suggested that there was no significant association between IL-4 -590C/T polymorphism and cancer risks (TT + TC vs. CC: OR = 0.97, 95 % CI = 0.90-1.04, P = 0.36). In the subgroup analysis by ethnicity, no significant association was detected in Asians and Caucasians. In the subgroup analysis by cancer types, no significant association was found in gastric cancer and colorectal cancer. The current meta-analysis suggested that the -590C/T polymorphism in the IL-4 gene might not be associated with increased/decreased risk of cancer. The -590C/T polymorphism might be not a risk factor for cancers.

Metformin up-regulated miR-107 expression and enhanced the inhibitory effect of miR-107 on gastric cancer growth.

Gastric cancer (GC) is one of the most common malignant neoplasms and is the third leading cause of cancer-related death around the world. Metformin has been well reported to have an inhibitory effect on the growth of various cancers by regulating the expression of microRNAs (miRNAs). However, the specific miRNA(s) regulated by metformin in GC have not been identified. In this study, real-time reverse transcription polymerase chain reaction (RT-PCR) analysis in vitro indicated that miR-107 expression was up-regulated in metformin-treated SGC-7901 cells compared with untreated SGC-7901 and MGC803 cells. Amplification of miR-107 expression further reduced cell proliferation in metformin-treated GC cells. A bioinformatics analysis showed that mitogen-activated protein kinase 8 (MAPK8) was the common target of metformin and miR-107. MAPK8 expression is associated with immune cell infiltration in GC as well as overall GC patient survival. Our study demonstrates that miR-107 enhances the anti-cancer effects of metformin in GC tissues, which offers a novel strategy for the treatment of GC.

Erratum to metformin up-regulated miR-107 expression and enhanced the inhibitory effect of miR-107 on gastric cancer growth.

[This corrects the article DOI: 10.21037/tcr.2020.03.25.].

The polymorphism in the let-7 targeted region of the Lin28 gene is associated with increased risk of type 2 diabetes mellitus.

Genetic polymorphisms in the miRNAs pathway of the pathogenesis of disease might contribute to the risk of disease. However, it is unclear whether these polymorphisms about miRNAs are associated with the risk of type 2 diabetes mellitus (T2DM). We performed a case-control study to investigate two polymorphisms in the let-7/Lin28 pathway based on 588 T2DM patients and 588 age and sex matched controls. The results showed that the rs3811463 polymorphism was associated with increased risk of T2DM (odds ratio (OR)=1.47, 95% confidence inference (95%CI)=1.13-1.93, P=0.005), while the rs3811464 not (OR=1.04, 95%CI=0.79-1.36, P=0.78). For the rs3811463 polymorphism, the variant genotypes were associated with increased risk of disease in females; statistically differences were observed in the clinical features of age at diagnosis, hypertension and peripheral neuropathy for the variant and wild genotype of the rs3811463 in T2DM. In summary, the results indicated that the rs3811463 polymorphism in the let-7/Lin28 pathway could significantly increase the risk of T2DM.