Severe acne is a chronic inflammatory skin disorder characterized by widespread inflammatory lesions including nodules, cysts and potential scarring. Here we perform the first genome-wide association study of severe acne in a Chinese Han population comprising 1,056 cases and 1,056 controls using the Illumina HumanOmniZhongHua-8 BeadChip. In an independent cohort of 1,860 cases and 3,660 controls of Chinese Han, we replicate 101 SNPs of which 3 showed consistent association. We identify two new susceptibility loci at 11p11.2 (DDB2, rs747650, P combined ¼ 4.41 Â 10 À 9 and rs1060573, P combined ¼ 1.28 Â 10 À 8 ) and 1q24.2 (SELL, rs7531806, P combined ¼ 1.20 Â 10 À 8 ) that are involved in androgen metabolism, inflammation processes and scar formation in severe acne. These results point to new genetic susceptibility factors and suggest several new biological pathways related to severe acne.
Tobacco (Nicotiana tabacum L.), particularly flue-cured tobacco, is one of the most economically important nonfood crops and is also an important model system in plant biotechnology. Despite its importance, only limited molecular marker resources are available for genome analysis, genetic mapping, and breeding. Simple sequence repeats (SSR) are one of the most widely-used molecular markers, having significant advantages including that they are generally co-dominant, easy to use, abundant in eukaryotic organisms, and produce highly reproducible results. In this study, based on the genome sequence data of flue-cured tobacco (K326), we developed a total of 13,645 mostly novel SSR markers, which were working in a set of eighteen tobacco varieties of four different types. A mapping population of 213 backcross (BC1) individuals, which were derived from an intra-type cross between two flue-cured tobacco varieties, Y3 and K326, was selected for mapping. Based on the newly developed SSR markers as well as published SSR markers, we constructed a genetic map consisting of 626 SSR loci distributed across 24 linkage groups and covering a total length of 1120.45 cM with an average distance of 1.79 cM between adjacent markers, which is the highest density map of flue-cured tobacco till date.
Introduction. The insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene has been reported to associate with human longevity. However, little information is available in a Han Chinese longevity population. Therefore, we investigated the association of the ACE gene insertion/ deletion polymorphism with longevity in a Han Chinese population. Materials and methods. We compared the distribution of ACE insertion/deletion genotype and allele frequencies in two groups: a longevity group (399 subjects) aged over 90 years and a control group (302 subjects) aged less than 60 years. Results. No difference in genotype and allele frequencies of the ACE gene insertion/deletion polymorphism was observed between the longevity group and the control group. When adjusting for gender, the difference between the longevity group and the control group was also not significant regarding the frequencies of the genotypes (male, p=0.994 and female, p=0.797) as well as allele frequencies (male, p=0.969 and female, p=0.884). Conclusions.No association of the ACE gene insertion/deletion polymorphism with longevity was observed in our Han Chinese population. IntroductionLongevity has always been a desire of humankind. Although human lifespan is influenced mostly by non-genetic factors, genetic factors also have an important impact on lifespan. [1][2][3] Angiotensin-converting enzyme (ACE) cleaves angiotensin I to yield the octapeptide angiotensin II, which is a potent vasoconstrictor. 4 An Alu insertion/deletion (I/D) in intron 16 of the ACE gene has been suggested to be involved in cardiovascular disease.5 Subjects bearing the D allele have higher circulating and tissue ACE levels than those with the I allele, and homozygosity of the ACE D allele has been linked to an increased risk for myocardial infarction, left ventricular hypertrophy and in-stent restenosis after angioplasty. 6A potential role of the ACE gene I/D polymorphism in longevity was proposed in a casecontrol study in French centenarians in 1994. In an Italian population and a Korean population, studies in centenarians have also shown no association of the ACE gene I/D polymorphism with longevity. 9,10 Another study in an Italian sample reported a role of gender in the association of the ACE gene I/D polymorphism with longevity.11 In China, data from an Uighur longevity group supported the association between the ACE gene I/D polymorphism and longevity. 12,13 Han is the most populous ethnic group in China. However, little information on ACE I/D genotypes has been obtained in Han Chinese longevity populations. In this study, we examined the distribution of ACE I/D genotype and allele frequencies in two groups: a longevity group aged over 90 years and a control group aged less than 60 years living in the Dujiang Weirs area, in Southwest China, and the association of the ACE gene I/D polymorphism with longevity was evaluated. Materials and methods Study samplesWe included 701 subjects in this study. The longevity group included 399 nonagenarians an...
BackgroundThe -308 G/A polymorphism in the tumor necrosis factor (TNF) gene has been implicated in the risk of acne vulgaris, but the results are inconclusive. The present meta-analysis aimed to investigate the overall association between the -308 G/A polymorphism and acne vulgaris risk.MethodsWe searched in Pubmed, Embase, Web of Science and CNKI for studies evaluating the association between the -308 G/A gene polymorphism and acne vulgaris risk. Data were extracted and statistical analysis was performed using STATA 12.0 software.ResultsA total of five publications involving 1553 subjects (728 acne vulgaris cases and 825 controls) were included in this meta-analysis. Combined analysis revealed a significant association between this polymorphism and acne vulgaris risk under recessive model (OR = 2.73, 95% CI: 1.37–5.44, p = 0.004 for AA vs. AG + GG). Subgroup analysis by ethnicity showed that the acne vulgaris risk associated with the -308 G/A gene polymorphism was significantly elevated among Caucasians under recessive model (OR = 2.34, 95% CI: 1.13–4.86, p = 0.023).ConclusionThis meta-analysis suggests that the -308 G/A polymorphism in the TNF gene contributes to acne vulgaris risk, especially in Caucasian populations. Further studies among different ethnicity populations are needed to validate these findings.
Black shank, caused by Phytophthora nicotianae (P. nicotianae), is a serious disease of cultivated tobacco (Nicotiana tabacum) worldwide. The interactions between tobacco and P. nicotianae are complex and the outcomes of the interactions depend on the tobacco genotype, P. nicotianae strain, and environmental conditions. In this study, we used RNA-sequencing (RNA-Seq) to investigate and compare transcriptional changes in the stems of tobacco upon inoculation with P. nicotianae strain race 0. We used two tobacco varieties: RBST (named from resistance to black shank and tobacco mosaic virus), which was resistant to the P. nicotianae strain race 0, and Honghuadajinyuan (HD), which was susceptible to P. nicotianae race 0. Samples were collected 12 and 72-hour post inoculation (hpi). Analysis of differentially expressed genes (DEGs) and significantly enriched GO terms indicated that several basic defense mechanisms were suppressed in both varieties, which included response to wounding (GO: 0009611), and defense response to fungus (GO: 0050832). We also found some genes that may especially be related to mechanisms of resistance in RBST, such as the one encoding a chitinase. These results will provide a valuable resource for understanding the interactions between P. nicotianae and tobacco plants.
Background Cutaneous squamous cell carcinoma (cSCC) often follows actinic keratosis (AK) and is the second most common skin cancer worldwide. To reduce metastasis risk, it is important to diagnose and treat cSCC early. This study aimed to identify hub genes associated with cSCC and AK. Methods This study used three datasets GSE45216, GSE98774, and GSE108008. We combined samples from the GSE45216 and GSE98774 datasets into the new dataset GSE45216–98774. We applied a weighted gene co-expression network analysis (WGCNA) to investigate key modules and hub genes associated with cSCC and AK. We considered the hub genes found in both the GSE45216–98774 and GSE108008 datasets as validated hub genes. We tested whether the expression of hub genes could predict patient survival outcomes in other cancers using TCGA pan-cancer data. Results We identified modules most relevant to cSCC and AK. Additionally, we identified and validated seven hub genes of cSCC: GATM, ARHGEF26, PTHLH, MMP1, POU2F3, MMP10 and GATA3. We did not find validated hub genes for AK. Each hub gene was significantly associated with the survival of various cancer types. Only GATA3 was significantly associated with melanoma survival. Conclusions We applied WGCNA to find seven hub genes that play important roles in cSCC tumorigenesis. These results provide new insights that help explain the pathogenesis of cSCC. These hub genes may become biomarkers or therapeutic targets for accurate diagnosis and treatment of cSCC in the future.
The municipal sewage sludge typically has very high water content and low shear strength. Conventional methods of lime and cement solidification of municipal sewage sludge often suffer high cost, significant drying shrinkage, frequent cracking, high hydraulic conductivity, and low strength. To overcome these shortcomings, in this paper a skeleton-building method was used to solidify municipal sewage sludge in which coal gangue, cement and clay, and fiber were used as skeleton materials, cementation materials, and filling materials, respectively. Comprehensive laboratory tests including cracking, nitrogen adsorption, triaxial shearing, and permeability tests were performed to determine cracking, pore structure, shear strength, and hydraulic conductivity of municipal sewage sludge solidified with different proportions of coal gangue, cement, fiber, and clay. Based upon the experimental results, the mechanisms of the skeleton building using cement and coal gangue were discussed and factors controlling the mechanical and hydraulic behavior of the solidified soils were analyzed at both microscopic and macroscopic levels. Based upon the test results and analyses, recommendations were made for solidifying municipal sewage sludge through skeleton building using cement and coal gangue. The solidified soils have high soil strength, high resistance to cracking, and low hydraulic conductivity which are sufficient for being used as landfill liner.
Objective Melanoma accounts for 80% of skin cancer deaths. The pathogenesis of melanoma is regulated by gene networks. Thus, we aimed here to identify gene networks and hub genes associated with melanoma and to further identify their underlying mechanisms. Methods GTEx (normal skin) and TCGA (melanoma tumor) RNA-seq datasets were employed for this purpose. We conducted weighted gene co-expression network analysis (WGCNA) to identify key modules and hub genes associated with melanoma. Log-rank analysis and multivariate Cox model analysis were performed to identify prognosis genes, which were validated using two independent melanoma datasets. We also evaluated the correlation between prognostic gene and immune cell infiltration. Results The blue module was the most relevant for melanoma and was thus considered the key module. Intersecting genes were identified between this module and differentially expressed genes (DEGs). Finally, 72 genes were identified and verified as hub genes using the Oncomine database. Log-rank analysis and multivariate Cox model analysis identified 13 genes that were associated with the prognosis of the metastatic melanoma group, and RTP4 was validated as a prognostic gene using two independent melanoma datasets. RTP4 was not previously associated with melanoma. When we evaluated the correlation between prognostic gene and immune cell infiltration, we discovered that RTP4 was associated with immune cell infiltration. Further, RTP4 was significantly associated with genes encoding components of immune checkpoints (PDCD1, TIM-3, and LAG3). Conclusions RTP4 is a novel prognosis-related hub gene in cutaneous melanoma. The novel gene RTP4 identified here will facilitate the exploration of the molecular mechanism of the pathogenesis and progression of melanoma and the discovery of potential new target for drug therapy.
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