The skin is the largest organ of the human body,and its aging is visible to the naked eye.The aging rate of men and women is slightly different.This study compared the protein expression of skin samples on the curved ...The skin is the largest organ of the human body,and its aging is visible to the naked eye.The aging rate of men and women is slightly different.This study compared the protein expression of skin samples on the curved forearms of 11 healthy women and 9 healthy men.Quantitative proteomics analysis found that the expression of epidermal proteins in men and women of the same age group was different.Compared with female skin,in male skin,20 proteins were upregulated,and 7 proteins were downregulated.These data suggest that men and women have differences in the speed of skin aging.For the first time in this experiment,a non-invasive mass spectrometer was used to detect 27 different-related epidermal proteins between men and women.Compared with women,among the 20 epidermal proteins upregulated in men,their functions can be classified into antioxidants,epidermal lipid metabolism,signal transduction,membrane transport,and cell biological processes;the 7 downregulated proteins are involved in a variety of biological processes and inflammatory reactions.Our experiments have discovered epidermal proteins related to the differences between men and women,enriching the library of epidermal differential proteins between men and women and enriching the mechanism of skin aging between men and women from the perspective of epidermal differential proteins.展开更多
Psoriasis (Ps) and psoriatic arthritis (PsA) are genetically complex diseases with strong genetic evidence. Recently, susceptibility genes for Ps and PsA have been identified within the late cornified envelop (LC...Psoriasis (Ps) and psoriatic arthritis (PsA) are genetically complex diseases with strong genetic evidence. Recently, susceptibility genes for Ps and PsA have been identified within the late cornified envelop (LCE) gene cluster, especially the cluster 3 (LCE3) genes. It is noteworthy that the deletion of LCE3B and LCE3C (LCE3C_LCE3B-del) is significantly associated with these two diseases. Gene-gene interactions between LCE3 genes and other genes are associated with Ps and PsA. LCE3 genes also have pleiotropic effect on some autoimmune diseases, such as rheumatoid arthritis, atopic dermatitis and systemic lupus erythematosus. Further studies need to focus on the potential function of LCE3 genes in the pathogenesis of Ps and PsA in the future.展开更多
Human height is a highly heritable trait in which multiple genes are involved. Recent genome-wide association studies (GWASs) have identified that COL11A1 is an important susceptibility gene for hu- man height. To d...Human height is a highly heritable trait in which multiple genes are involved. Recent genome-wide association studies (GWASs) have identified that COL11A1 is an important susceptibility gene for hu- man height. To determine whether the variants of COL11A 1 are associated with adult and children height, we analyzed splicing and coding single-nucleotide variants across COL11A1 through exome-targeted sequencing and two validation stages with a total 20,426 Chinese Han samples. A total of 105 variants were identified by exome-targeted sequencing, of which 30 SNPs were located in coding region. The strongest association signal was chrl 103380393 with P value of 4.8 × 10-7. Chrl_103380393 also showed nominal significance in the validation stage (P = 1.21×10 6). Combined analysis of 16,738 samples strengthened the original association of chrl 103380393 with adult height (Pcombinea - 3.1×10 8), with an increased height of 0.292sd (standard deviation) per G allele (95% CI: 0.19-0.40). There was no evidence (P = 0.843) showing that chrl 103380393 altered child height in 3688 child samples. Only the group of 12-15 years showed slight significance with P value of 0.0258. This study firstly shows that genetic variants of COL11A1 contribute to adult height in Chinese Han population but not to children height, which expand our knowledge of the genetic factors underlying height variation and the biological regulation of human height.展开更多
Most common diseases and genetic traits are associated with multiple genetic and environmental factors as well as conse- quences of their interactions (Chakravarti and Little, 2003;Guttmacher et al., 2004). In recen...Most common diseases and genetic traits are associated with multiple genetic and environmental factors as well as conse- quences of their interactions (Chakravarti and Little, 2003;Guttmacher et al., 2004). In recent years, genetic analyses of human diseases with quantitative traits were primarily focused on identi- fying common variants through genome-wide association studies (GWASs), and many novel susceptibility genes implicating specific biological pathways have been identified. As of May 2016,展开更多
Objective:Emetine,an isoquinoline alkaloid that is enriched at high concentrations in the lung,has shown potent in vitro activity against severe acute respiratory syndrome coronavirus 2(SARS-CoV-2).The aim of this stu...Objective:Emetine,an isoquinoline alkaloid that is enriched at high concentrations in the lung,has shown potent in vitro activity against severe acute respiratory syndrome coronavirus 2(SARS-CoV-2).The aim of this study was to better understand the effectiveness of low-dose emetine for patients with coronavirus disease 2019(COVID-19).Methods:In this real-world study,63 patients with mild or common COVID-19 were recruited from Wuhan Fangcang Shelter Hospital and five COVID-19-designated hospitals in Anhui Province,China from February to March 2020.Thirty-nine patients from Wuhan Fangcang Shelter Hospital were assigned to a pragmatic randomized controlled clinical trial,and 24 patients from the 5 COVID-19-designated hospitals in Anhui Province underwent a real-world study.The medication course of emetine was less than 10 days.The main symptoms and adverse reactions of all patients were observed and recorded.The primary outcome measure was the time required for a negative SARS-CoV-2 RNA result or the negative result rate on day 10.Secondary outcomes included axillary temperature,transcutaneous oxygen saturation,and respiratory frequency recovery.The study was approved by the Ethics Committee of The First Affiliated Hospital of Anhui Medical University on February 20,2019(approval No.PJ2020-03-19)and was registered with the Chinese Clinical Trial Registry on February 20,2019(registration number:ChiCTR2000030022).Results:The oxygen saturation values were higher in the treatment group than in the control group on the first day after enrollment for patients treated at Fangcang Shelter Hospital.The axillary body temperature,respiratory rate,and oxygen saturation among patients in Fangcang Shelter Hospital were related to the time effect but not to the intervention measures.The respiratory rate and oxygen saturation of patients in the Anhui designated hospitals were related to the intervention measures but not to the time effect.The axillary body temperature of patients in Anhui designated hospitals was related to the time effect but not to the intervention measures.Conclusion:Our preliminary study shows that low-dose emetine combined with basic conventional antiviral drugs improves clinical symptoms in patients with mild and common COVID-19 without apparent adverse effects,suggesting that moderately increased doses of emetine may have good potential for treatment and prevention of COVID-19.展开更多
Orofacial clefts(OFCs),particularly cleft lip with or without cleft palate(CL/P)and cleft palate only(CPO),are among the most common birth defects in humans(Mossey et al.,2009;Dixon et al.,2011).The birth prevalence r...Orofacial clefts(OFCs),particularly cleft lip with or without cleft palate(CL/P)and cleft palate only(CPO),are among the most common birth defects in humans(Mossey et al.,2009;Dixon et al.,2011).The birth prevalence rate of OFCs in China is reported to be as high as 1.66 per thousand newborns.展开更多
Psoriasis is caused by many factors and is characterized by excessive proliferation of the epidermis and erythema with silver scales on the surface of the skin and concomitant with a variety of diseases(Griffiths et a...Psoriasis is caused by many factors and is characterized by excessive proliferation of the epidermis and erythema with silver scales on the surface of the skin and concomitant with a variety of diseases(Griffiths et al., 2021). Despite the unclear aetiology,increasing evidence has demonstrated that genetic factors play key roles in the pathogenesis of psoriasis.展开更多
The human leukocyte antigen(HLA)complex is involved in immunity,belongs to a highly polymorphic family of genes,and is found in a disease-associated region of the human genome.The HLA region of the genome has been ass...The human leukocyte antigen(HLA)complex is involved in immunity,belongs to a highly polymorphic family of genes,and is found in a disease-associated region of the human genome.The HLA region of the genome has been associated with more than hundreds of diseases,including autoimmune diseases,cancer,and infectious diseases.Because of its extensive linkage disequilibrium,HLA represents one of the most attractive and valuable regions that have been discovered in numerous feasibility studies.However,despite its critical role,attempts to apply comprehensive and traditional strategies towards the characterization of the HLA locus have been limited.The recent development of genotyping arrays and sequencing technologies has resulted in the development of technologies that are capable of addressing the extreme polymorphism nature of HLA.In this review,we summarized the current approaches being used to capture,sequence,and analyze HLA genes and loci.In addition,we discussed the new methodologies being used for these applications,including HLA genotyping,population genetics,and disease-association studies.展开更多
基金the Science and Technology Action Plan for Prevention and Treatment of Major Diseases sponsored by the National Health and Family Planning Commission of the People’s Republic of China(Grant No.2017ZX-01E-002)Anhui Institute of Translational Medicine(ZHYX2020A005).
文摘The skin is the largest organ of the human body,and its aging is visible to the naked eye.The aging rate of men and women is slightly different.This study compared the protein expression of skin samples on the curved forearms of 11 healthy women and 9 healthy men.Quantitative proteomics analysis found that the expression of epidermal proteins in men and women of the same age group was different.Compared with female skin,in male skin,20 proteins were upregulated,and 7 proteins were downregulated.These data suggest that men and women have differences in the speed of skin aging.For the first time in this experiment,a non-invasive mass spectrometer was used to detect 27 different-related epidermal proteins between men and women.Compared with women,among the 20 epidermal proteins upregulated in men,their functions can be classified into antioxidants,epidermal lipid metabolism,signal transduction,membrane transport,and cell biological processes;the 7 downregulated proteins are involved in a variety of biological processes and inflammatory reactions.Our experiments have discovered epidermal proteins related to the differences between men and women,enriching the library of epidermal differential proteins between men and women and enriching the mechanism of skin aging between men and women from the perspective of epidermal differential proteins.
文摘Psoriasis (Ps) and psoriatic arthritis (PsA) are genetically complex diseases with strong genetic evidence. Recently, susceptibility genes for Ps and PsA have been identified within the late cornified envelop (LCE) gene cluster, especially the cluster 3 (LCE3) genes. It is noteworthy that the deletion of LCE3B and LCE3C (LCE3C_LCE3B-del) is significantly associated with these two diseases. Gene-gene interactions between LCE3 genes and other genes are associated with Ps and PsA. LCE3 genes also have pleiotropic effect on some autoimmune diseases, such as rheumatoid arthritis, atopic dermatitis and systemic lupus erythematosus. Further studies need to focus on the potential function of LCE3 genes in the pathogenesis of Ps and PsA in the future.
基金supported by the grant from the Youth National Science Foundation of China (No.31100908)
文摘Human height is a highly heritable trait in which multiple genes are involved. Recent genome-wide association studies (GWASs) have identified that COL11A1 is an important susceptibility gene for hu- man height. To determine whether the variants of COL11A 1 are associated with adult and children height, we analyzed splicing and coding single-nucleotide variants across COL11A1 through exome-targeted sequencing and two validation stages with a total 20,426 Chinese Han samples. A total of 105 variants were identified by exome-targeted sequencing, of which 30 SNPs were located in coding region. The strongest association signal was chrl 103380393 with P value of 4.8 × 10-7. Chrl_103380393 also showed nominal significance in the validation stage (P = 1.21×10 6). Combined analysis of 16,738 samples strengthened the original association of chrl 103380393 with adult height (Pcombinea - 3.1×10 8), with an increased height of 0.292sd (standard deviation) per G allele (95% CI: 0.19-0.40). There was no evidence (P = 0.843) showing that chrl 103380393 altered child height in 3688 child samples. Only the group of 12-15 years showed slight significance with P value of 0.0258. This study firstly shows that genetic variants of COL11A1 contribute to adult height in Chinese Han population but not to children height, which expand our knowledge of the genetic factors underlying height variation and the biological regulation of human height.
文摘Most common diseases and genetic traits are associated with multiple genetic and environmental factors as well as conse- quences of their interactions (Chakravarti and Little, 2003;Guttmacher et al., 2004). In recent years, genetic analyses of human diseases with quantitative traits were primarily focused on identi- fying common variants through genome-wide association studies (GWASs), and many novel susceptibility genes implicating specific biological pathways have been identified. As of May 2016,
基金mainly supported by the National Natural Science Foundation of China (No.81502713)Grants for Scientific Research of BSKY (No.XJ201634)Anhui Medical University,and Key Program of Outstanding Talents of Anhui Province (No.gxyqZD2017028).
基金the grant from the Natural Science Foundation of Anhui Province,China(No.202004a07020007).
文摘Objective:Emetine,an isoquinoline alkaloid that is enriched at high concentrations in the lung,has shown potent in vitro activity against severe acute respiratory syndrome coronavirus 2(SARS-CoV-2).The aim of this study was to better understand the effectiveness of low-dose emetine for patients with coronavirus disease 2019(COVID-19).Methods:In this real-world study,63 patients with mild or common COVID-19 were recruited from Wuhan Fangcang Shelter Hospital and five COVID-19-designated hospitals in Anhui Province,China from February to March 2020.Thirty-nine patients from Wuhan Fangcang Shelter Hospital were assigned to a pragmatic randomized controlled clinical trial,and 24 patients from the 5 COVID-19-designated hospitals in Anhui Province underwent a real-world study.The medication course of emetine was less than 10 days.The main symptoms and adverse reactions of all patients were observed and recorded.The primary outcome measure was the time required for a negative SARS-CoV-2 RNA result or the negative result rate on day 10.Secondary outcomes included axillary temperature,transcutaneous oxygen saturation,and respiratory frequency recovery.The study was approved by the Ethics Committee of The First Affiliated Hospital of Anhui Medical University on February 20,2019(approval No.PJ2020-03-19)and was registered with the Chinese Clinical Trial Registry on February 20,2019(registration number:ChiCTR2000030022).Results:The oxygen saturation values were higher in the treatment group than in the control group on the first day after enrollment for patients treated at Fangcang Shelter Hospital.The axillary body temperature,respiratory rate,and oxygen saturation among patients in Fangcang Shelter Hospital were related to the time effect but not to the intervention measures.The respiratory rate and oxygen saturation of patients in the Anhui designated hospitals were related to the intervention measures but not to the time effect.The axillary body temperature of patients in Anhui designated hospitals was related to the time effect but not to the intervention measures.Conclusion:Our preliminary study shows that low-dose emetine combined with basic conventional antiviral drugs improves clinical symptoms in patients with mild and common COVID-19 without apparent adverse effects,suggesting that moderately increased doses of emetine may have good potential for treatment and prevention of COVID-19.
基金funded by the National Natural Science Foundation of China(81970904 to MH,81970923 to ZB)Anhui Institute of Translational Medicine(ZHYX2020A005 to LS)+2 种基金the University Synergy Innovation Program of Anhui Province(GXXT-2020-064 to LS)Clinical medicine discipline construction project of Anhui Medical University(2021lcxk008 to LS)the National Key Research and Development Program(2016YFC1000505 to ZB)。
文摘Orofacial clefts(OFCs),particularly cleft lip with or without cleft palate(CL/P)and cleft palate only(CPO),are among the most common birth defects in humans(Mossey et al.,2009;Dixon et al.,2011).The birth prevalence rate of OFCs in China is reported to be as high as 1.66 per thousand newborns.
基金supported by grants from the National Natural Science Foundation of China(81972927,81773313)Anhui Institute of Translational Medicine(ZHYX2020A005)。
文摘Psoriasis is caused by many factors and is characterized by excessive proliferation of the epidermis and erythema with silver scales on the surface of the skin and concomitant with a variety of diseases(Griffiths et al., 2021). Despite the unclear aetiology,increasing evidence has demonstrated that genetic factors play key roles in the pathogenesis of psoriasis.
文摘The human leukocyte antigen(HLA)complex is involved in immunity,belongs to a highly polymorphic family of genes,and is found in a disease-associated region of the human genome.The HLA region of the genome has been associated with more than hundreds of diseases,including autoimmune diseases,cancer,and infectious diseases.Because of its extensive linkage disequilibrium,HLA represents one of the most attractive and valuable regions that have been discovered in numerous feasibility studies.However,despite its critical role,attempts to apply comprehensive and traditional strategies towards the characterization of the HLA locus have been limited.The recent development of genotyping arrays and sequencing technologies has resulted in the development of technologies that are capable of addressing the extreme polymorphism nature of HLA.In this review,we summarized the current approaches being used to capture,sequence,and analyze HLA genes and loci.In addition,we discussed the new methodologies being used for these applications,including HLA genotyping,population genetics,and disease-association studies.