RESUMO
Severe acne presents sexual dimorphism in its incidence in Chinese population. It is more prevalent in males. To assess the possible Y chromosomal contribution to severe acne risk in Han Chinese males, we analyzed 2041 Y chromosomal SNPs (Y-SNPs) in 725 severe acne cases and 651 controls retrieved from our recent genome-wide association study data. After data filtering, we assigned 585 cases and 494 controls into 12 Y chromosomal haplogroups based on 307 high-confidence Y-SNPs. No statistically significant difference in the distribution of Y chromosomal haplogroup frequencies was observed between the case and control groups. Our results showed a lack of association between the incidence of severe acne and the different Y chromosomal haplogroup in the Han Chinese population.
Assuntos
Acne Vulgar/genética , Povo Asiático/genética , Cromossomos Humanos Y/genética , Polimorfismo de Nucleotídeo Único/genética , Acne Vulgar/epidemiologia , Estudo de Associação Genômica Ampla , Haplótipos , Humanos , MasculinoRESUMO
The cholesteryl ester transfer protein (CETP), which is involved in the regulation of reverse cholesterol transport and metabolism of high-density lipoprotein cholesterol, has been proposed as a candidate gene for human longevity. SNPs in the promoter region of the CETP gene is likely important in regulation of the expression of the CETP gene. To explore the potential effects of the promoter polymorphisms in the CETP gene on longevity, we investigated the promoter polymorphisms in a sample of long-lived (≥ 90 years old) Han Chinese collected from Southwestern China (N = 380). By resequencing 934 bp of the promoter region, genotypes of four SNPs (-573A/G, -629A/C, -971A/G, -1046T/C) were examined in this sample. However, no association could be confirmed between longevity and these SNPs or haplotypes inferred from them. A novel rare variant -573A/G was found and was found in heterozygote state only in five persons in the Longevity group. But it was not statistically significant (p = 0.075). We also examined this novel polymorphism -573A/G in another Han Chinese sample from Yunnan province, and it was not associated with longevity. The results from both samples suggest that there is likely no association of the CETP gene promoter polymorphisms with longevity, at least among Han Chinese.
Assuntos
Proteínas de Transferência de Ésteres de Colesterol/genética , Longevidade/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , China , Feminino , Frequência do Gene , Estudos de Associação Genética , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
BACKGROUND: Two novel susceptibility gene loci (1q24.2 and 11p11.2) for severe acne have been identified in a genome-wide association study of a Han Chinese population. OBJECTIVE: The current study investigated the relationships of these gene loci with clinical phenotypes, including onset age, atrophic scarring, hypertrophic scarring and family history. Furthermore, we investigated the correlations between these four clinical phenotypes. METHODS: We used the χ2 test to compare the allele frequency among the different clinical phenotypes. We calculated Spearman's correlation coefficient to measure the relationship between the different clinical phenotypes. RESULTS: We identified significant associations between the 11p11.2 locus and disease family history (p < 0.05). We also determined that hypertrophic scarring was moderately correlated with atrophic scarring (rs = 0.315). CONCLUSIONS: This study suggests that the susceptibility gene locus 11p11.2 may contribute to the complex phenotypes of severe acne, particularly in cases of hereditary severe acne, whereas there are also correlations between the different phenotypes.
Assuntos
Acne Vulgar/etnologia , Acne Vulgar/genética , Povo Asiático/genética , Cromossomos Humanos Par 11/genética , Loci Gênicos , Predisposição Genética para Doença/epidemiologia , Adolescente , China , Estudos de Coortes , Bases de Dados Factuais , Feminino , Frequência do Gene , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único , Adulto JovemRESUMO
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.
Assuntos
Deleção de Genes , Longevidade/genética , Mutagênese Insercional , Peptidil Dipeptidase A/genética , Idoso de 80 Anos ou mais , Povo Asiático/genética , China , Feminino , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo GenéticoRESUMO
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.
Assuntos
Nicotiana/genética , Phytophthora/patogenicidade , Doenças das Plantas , Transcriptoma , Perfilação da Expressão Gênica , Ontologia Genética , Interações Hospedeiro-PatógenoRESUMO
BACKGROUND: The -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. METHODS: We 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. RESULTS: A 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 (ORâ=â2.73, 95% CI: 1.37-5.44, pâ=â0.004 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 (ORâ=â2.34, 95% CI: 1.13-4.86, pâ=â0.023). CONCLUSION: This 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.
Assuntos
Acne Vulgar/genética , Predisposição Genética para Doença , Polimorfismo Genético/genética , Fator de Necrose Tumoral alfa/genética , Acne Vulgar/etnologia , Estudos de Casos e Controles , Etnicidade , Humanos , Fatores de RiscoRESUMO
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)=4.41 × 10â»9 and rs1060573, P(combined)=1.28 × 10â»8) and 1q24.2 (SELL, rs7531806, P(combined)=1.20 × 10â»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.
Assuntos
Acne Vulgar/genética , Proteínas de Ligação a DNA/genética , Adolescente , Adulto , Povo Asiático , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Selectina L , Masculino , Polimorfismo de Nucleotídeo Único , Adulto JovemRESUMO
High algae-laden water was treated respectively by single-recycle and step-recycle counter current flotation. The results indicate that step-recycle mode of dissolved air water can strengthen capturing of bubbles and flocs association suspension bed, and extend the collision time of smaller flee and bubble because of reducing the thickness of suspension bed and increasing that of transition bed. Given the condition that other parameters were same, the biggest hydraulic loading of single-recycle could reach 11 m/h, and that of step-recycle could reach 17 m/h which is increased by 50%. Efficiency of treatment was improved by a large margin. The recycle ratio of two releasers and position of the pensile releaser influenced removal effect remarkably. The distance between settled releaser and inlet of raw water is 180 cm, and the range of distance between pensile releaser and inlet of raw water is 60-90 cm. The flow of pensile releaser is 2-3 times as much as settled releaser.