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The progression of prostate cancer (PCa) leads to poor prognosis. However, the molecular mechanism of PCa is still not completely clear. This study aimed to elucidate the important role of centromere protein A (CENPA) in PCa. Large numbers of bulk RNA sequencing (RNA‐seq) data and in‐house immunohistochemistry data were used in analysing the expression level of CENPA in PCa and metastatic PCa (MPCa). Single‐cell RNA‐seq data was used to explore the expression status of CENPA in different prostate subpopulations. Enrichment analysis was employed to detect the function of CENPA in PCa. Clinicopathological parameters analysis was utilised in analysing the clinical value of CENPA. The results showed that CENPA was upregulated in PCa (standardised mean difference [SMD] = 0.83, p = 0.001) and MPCa (SMD = 0.61, p = 0.029). CENPA was overexpressed in prostate cancer stem cells (CSCs) with androgen receptor (AR) negative compared to epithelial cells with AR positive. CENPA may influence the development of PCa through affecting cell cycle. Patients with nodal metastasis had higher expression level of CENPA. And patients with high CENPA expression had poor disease‐free survival. Taken together, Overexpression of CENPA may influence the development of PCa by regulating cell cycle and promoting metastasis. [ABSTRACT FROM AUTHOR]

Basing on alternative splicing events (ASEs) databases, the authors herein aim to explore potential prognostic biomarkers for cervical squamous cell carcinoma (CESC). mRNA expression profiles and relevant clinical data of 223 patients with CESC were obtained from The Cancer Genome Atlas (TCGA). Correlated genes, ASEs and percent‐splice‐in (PSI) were downloaded from SpliceSeq, respectively. The PSI values of survival‐associated alternative splicing events (SASEs) were used to construct the basis of a prognostic index (PI). A protein–protein interaction (PPI) network of genes related to SASEs was generated by STRING and analysed with Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG). Consequently, 41,776 ASEs were discovered in 19,724 genes, 2596 of which linked with 3669 SASEs. The PPI network of SASEs related genes revealed that TP53 and UBA52 were core genes. The low‐risk group had a longer survival period than high‐risk counterparts, both groups being defined according to PI constructed upon the top 20 splicing events or PI on the overall splicing events. The AUC value of ROC reached up to 0.88, demonstrating the prognostic potential of PI in CESC. These findings suggested that ASEs involve in the pathogenesis of CESC and may serve as promising prognostic biomarkers for this female malignancy. [ABSTRACT FROM AUTHOR]

Altered miRNA expression participates in the biological progress of thyroid carcinoma and functions as a diagnostic marker or therapeutic agent. However, the role of miR‐7‐2‐3p is currently unclear. The authors' study was the first investigation of miR‐7‐2‐3p expression level and diagnostic ability in several public databases. Potential target genes were obtained from DIANA Tools, and function enrichment analysis was then performed. Furthermore, the authors examined expression levels of potential targets in the Human Protein Atlas (HPA) and the Cancer Genome Atlas (TCGA). Finally, the potential transcription factors (TFs) were predicted by JASPAR. TCGA, GSE62054, GSE73182, GSE40807, and GSE55780 revealed that miR‐7‐2‐3p expression in papillary thyroid carcinoma (PTC) tissues was notably lower compared with non‐tumour tissues, while its expression in E‐MATB‐736 showed no remarkable difference. Function enrichment analysis showed that 698 genes were enriched in pathways, including pathways in cancer, and glioma. CCND1, GSK3B, and ITGAV of pathways in cancer were inverse correlations with miR‐7‐2‐3p in both post‐transcription and protein levels. According to the TF prediction, the prospective upstream TFs of miR‐7‐2‐3p were ISX, SPI1, PRRX1, and BARX1. MiR‐7‐2‐3p was significantly down‐regulated and may act on PTC progression by crucial pathways. However, the mechanisms of miR‐7‐2‐3p need further investigation. [ABSTRACT FROM AUTHOR]

Little is known about the association between the single nucleotide polymorphisms ( SNPs) and haplotypes of the dedicator of cytokinesis 7 ( DOCK7), pro-protein convertase subtilisin/kexin type 9 ( PCSK9) and polypeptide N-acetylgalactosaminyltransferase 2 ( GALNT2) and serum lipid traits in the Chinese populations. This study was to determine the association between nine SNPs in the three genes and their haplotypes and hypercholesterolaemia ( HCH)/hypertriglyceridaemia ( HTG), and to identify the possible gene-gene interactions among these SNPs. Genotyping was performed in 733 HCH and 540 HTG participants. The haplotype of C-C-G-C-T-G-C-C-G [in the order of DOCK7 rs1168013 (G>C), rs10889332 (C>T); PCSK9 rs615563 (G>A), rs7552841 (C>T), rs11206517 (T>G); and GALNT2 rs1997947 (G>A), rs2760537 (C>T), rs4846913 (C>A) and rs11122316 (G>A) SNPs] was associated with increased risk of HCH and HTG. The haplotypes of C-C-G-C-T-G-C-C-A and G-C-G-T-T-G-T-C-G were associated with a reduced risk of HCH and HTG. The haplotypes of G-C-G-C-T-G-C-C-A and G-C-G-C-T-G-T-C-G were associated with increased risk of HCH. The haplotypes of C-T-G-C-T-G-C-C-G, G-C-A-C-T-G-C-C-G and G-C-G-C-T-G-C-C-A were associated with an increased risk of HTG. The haplotypes of G-C-G-C-T-G-T-C-A and G-C-G-T-T-G-T-C-G were associated with a reduced risk of HTG. In addition, possible inter-locus interactions among the DOCK7, PCSK9 and GALNT2 SNPs were also noted. However, further functional studies of these genes are still required to clarify which SNPs are functional and how these genes actually affect the serum lipid levels. [ABSTRACT FROM AUTHOR]

This study aimed to detect the interactions of several single nucleotide polymorphisms (SNPs) and alcohol consumption on blood pressure levels. Genotypes of 10 SNPs in the ATP-binding cassette transporter A1 ( ABCA-1), acyl-CoA:cholesterol acyltransferase-1 ( ACAT-1), low density lipoprotein receptor ( LDLR), hepatic lipase gene ( LIPC), endothelial lipase gene ( LIPG), methylenetetrahydrofolate reductase ( MTHFR), the E3 ubiquitin ligase myosin regulatory light chain-interacting protein ( MYLIP), proprotein convertase subtilisin-like kexin type 9 ( PCSK9), peroxisome proliferator-activated receptor delta ( PPARD), and Scavenger receptor class B type 1 ( SCARB1) genes were determined in 616 nondrinkers and 608 drinkers. The genotypic frequencies of LDLR rs5925, LIPC rs2070895, MTHFR rs1801133, and MYLIP rs3757354 SNPs were significantly different between nondrinkers and drinkers. The levels of systolic blood pressure ( ABCA-1 rs2066715 and rs2070895), diastolic blood pressure (rs2070895), and pulse pressure (PP) (rs2066715, ACAT-1 rs1044925, and rs1801133) in nondrinkers, and systolic blood pressure (rs1044925 and SCARB1 rs5888), diastolic blood pressure (rs1044925 and LIPG rs2000813), and PP ( PCSK9 rs505151 and rs5888) in drinkers were different among the genotypes ( P < 0.005-0.001). The interactions of several SNPs and alcohol consumption on systolic blood pressure (rs2066715, rs1044925, rs5925, rs2070895, rs1801133, rs3757354, PPARD rs2016520, and rs5888), diastolic blood pressure (rs2066715, rs1044925, rs5925, rs2000813, rs3757354, and rs2016520), and PP (rs1044925, rs2070895, rs1801133, rs3757354, rs505151, and rs5888) were observed ( P < 0.005-0.001). The differences in blood pressure levels between the nondrinkers and drinkers might be partially attributed to the interactions of these SNPs and alcohol consumption. © 2015 BioFactors, 41(5):339-351, 2015 [ABSTRACT FROM AUTHOR]

The single nucleotide polymorphisms ( SNPs) in the BUD13 homolog ( BUD13) and zinc finger protein 259 ( ZNF259) genes have been associated with one or more serum lipid traits in the European populations. However, little is known about such association in the Chinese populations. Our objectives were to determine the association of the BUD13/ ZNF259 SNPs and their haplotypes with hypercholesterolaemia ( HCH)/hypertriglyceridaemia ( HTG) and to identify the possible gene-gene interactions among these SNPs. Genotyping of 6 SNPs was performed in 634 hyperlipidaemic and 547 normolipidaemic participants. The ZNF259 rs2075290, ZNF259 rs964184 and BUD13 rs10790162 SNPs were significantly associated with serum lipid levels in both HCH and non- HCH populations ( P < 0.008-0.001). On single locus analysis, only BUD13 rs10790162 was associated with HCH ( OR: 2.23, 95% CI: 1.05, 4.75, P = 0.015). The G-G-A-A-C-C haplotype, carrying rs964184-G-allele, was associated with increased risk of HCH ( OR: 1.35, 95% CI: 1.10, 1.66, P = 0.005) and HTG ( OR: 1.75, 95% CI: 1.39, 2.21, P = 0.000). The A-C-G-G-C-C and A-C-A-G-T-C haplotypes, carrying rs964184-C-allele, were associated with reduced risk of HCH ( OR: 0.77, 95% CI: 0.61, 0.99, P = 0.039 and OR: 0.66, 95% CI: 0.47, 0.94, P = 0.021 respectively). On multifactor dimensionality reduction analyses, the two- to three-locus models showed a significant association with HCH and HTG ( P < 0.01-0.001). The BUD13/ ZNF259 SNPs, which were significant in the European populations, are also replicable in the Southern Chinese population. Moreover, inter-locus interactions may exist among these SNPs. However, further functional studies are required to clarify how these SNPs and genes actually affect the serum lipid levels. [ABSTRACT FROM AUTHOR]

Linguistics and genetics always reach similar results in phylogenetic studies of human populations. A previous study found that populations speaking Han Chinese dialects have closer genetic relationships to each other than to neighboring ethnic groups. However, the Pinghua Chinese population from Guangxi is an exception. We have reported that northern Pinghua people are genetically related to populations speaking Daic languages. In this study, we further studied the southern Pinghua population. The Y chromosome and mitochondrial DNA haplogroup components and network analysis indicated that northern and southern Pinghua populations were genetically different. Therefore, we concluded that the Pinghua speakers may have various origins, even though Pinghua dialects are similar. Pinghua dialects might have originated when the Daic or Hmongic speakers from different regions learnt to speak the same Chinese dialect hundreds of years ago. Speakers of one language do not always have just one origin. [ABSTRACT FROM AUTHOR]

Background The interactions between apolipoprotein ( Apo) A1/ C3/ A5 haplotypes and alcohol consumption on serum lipid profiles have not been previously explored. The present study was undertaken to detect the polymorphisms of Apo A1 −75 bp G> A (rs1799837), Apo C3 3238 C> G (rs5128), Apo A5 −1131 T> C (rs662799), Apo A5 c.553 G> T (rs2075291), and Apo A5 c.457 G> A (rs3135507) and the interactions between their haplotypes and alcohol consumption on serum lipid levels. Methods Genotyping was performed in 1,030 unrelated subjects (516 nondrinkers and 514 drinkers) aged 15 to 89. The interactions between Apo A1/ C3/ A5 haplotypes and alcohol consumption on serum lipid levels were detected by factorial regression analysis after controlling for potential confounders. Results The frequencies of Apo C3 3238 CG/ GG genotypes and Apo A1 −75 bp A allele in nondrinkers were higher in females than in males ( p < 0.05). The frequencies of Apo C3 3238 CG/ GG genotypes and G allele in drinkers were higher in females than in males ( p < 0.05). The frequencies of Apo A1 −75 bp GA/ AA genotypes and A allele in males were higher, and those of Apo C3 3238 CG/ GG genotypes were lower in drinkers than in nondrinkers ( p < 0.05 to 0.01). The frequency of Apo C3 3238 GG genotype in male drinkers was also higher in ≥25 g/d than in <25 g/d subgroups ( p < 0.05). There were 11 haplotypes with a frequency >1% in our study population. The haplotypes of G- G- T- C- G (in the order of c.553 G> T, c.457 G> A, −1131 T> C, 3238 C> G, and −75 bp G> A), G- G- T- C- A, and G- G- C- G- G were shown consistent interactions with alcohol consumption to increase serum total cholesterol, high-density lipoprotein cholesterol ( HDL- C), and ApoA1 levels ( p < 0.05 to 0.001). The interactions between G- G- T- G- G ( HDL- C and Apo A1), G- G- C- C- A ( Apo A1), G- A- T- C- G (triglyceride), G- G- T- C- G ( Apo A1/ Apo B ratio), and G- G- C- G- G ( Apo B) haplotypes and alcohol consumption on serum lipid levels were also detected ( p < 0.05 to 0.001); the levels of these serum lipid parameters were significantly higher in drinkers than in nondrinkers. Conclusions The differences in serum lipid parameters between drinkers and nondrinkers might partly result from different interactions between the Apo A1/ C3/ A5 haplotypes and alcohol consumption. [ABSTRACT FROM AUTHOR]

Background: The interactions between apolipoprotein (Apo) A1/C3/A5 haplotypes and alcohol consumption on serum lipid profiles have not been previously explored. The present study was undertaken to detect the polymorphisms of ApoA1 -75 bp G>A (rs1799837), ApoC3 3238C>G (rs5128), ApoA5 -1131T>C (rs662799), ApoA5 c.553G>T (rs2075291), and ApoA5 c.457G>A (rs3135507) and the interactions between their haplotypes and alcohol consumption on serum lipid levels., Methods: Genotyping was performed in 1,030 unrelated subjects (516 nondrinkers and 514 drinkers) aged 15 to 89. The interactions between ApoA1/C3/A5 haplotypes and alcohol consumption on serum lipid levels were detected by factorial regression analysis after controlling for potential confounders., Results: The frequencies of ApoC3 3238 CG/GG genotypes and ApoA1 -75 bp A allele in nondrinkers were higher in females than in males (p < 0.05). The frequencies of ApoC3 3238 CG/GG genotypes and G allele in drinkers were higher in females than in males (p < 0.05). The frequencies of ApoA1 -75 bp GA/AA genotypes and A allele in males were higher, and those of ApoC3 3238 CG/GG genotypes were lower in drinkers than in nondrinkers (p < 0.05 to 0.01). The frequency of ApoC3 3238 GG genotype in male drinkers was also higher in ≥25 g/d than in <25 g/d subgroups (p < 0.05). There were 11 haplotypes with a frequency >1% in our study population. The haplotypes of G-G-T-C-G (in the order of c.553G>T, c.457G>A, -1131T>C, 3238C>G, and -75 bp G>A), G-G-T-C-A, and G-G-C-G-G were shown consistent interactions with alcohol consumption to increase serum total cholesterol, high-density lipoprotein cholesterol (HDL-C), and ApoA1 levels (p < 0.05 to 0.001). The interactions between G-G-T-G-G (HDL-C and ApoA1), G-G-C-C-A (ApoA1), G-A-T-C-G (triglyceride), G-G-T-C-G (ApoA1/ApoB ratio), and G-G-C-G-G (ApoB) haplotypes and alcohol consumption on serum lipid levels were also detected (p < 0.05 to 0.001); the levels of these serum lipid parameters were significantly higher in drinkers than in nondrinkers., Conclusions: The differences in serum lipid parameters between drinkers and nondrinkers might partly result from different interactions between the ApoA1/C3/A5 haplotypes and alcohol consumption., (Copyright © 2012 by the Research Society on Alcoholism.)