BACKGROUND Celiac Disease(CD)is an immune-mediated disorder,in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers)and environmental trigger(gluten)are well established.Indeed,both factors are necessary–b...BACKGROUND Celiac Disease(CD)is an immune-mediated disorder,in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers)and environmental trigger(gluten)are well established.Indeed,both factors are necessary–but not sufficient–to develop CD.However,it is very likely that CD is underdiagnosed in both developing and developed countries,due to several aspects,including the fact that a lot of patients present mild and/or atypical symptoms,without the presence of any recognized risk factors.Therefore,the possibility and feasibility of widened screening strategies to identify CD patients are debated.AIM To provide further evidence of the main epidemiological importance of HLADQB1*02 allele in the population of CD patients.METHODS We performed a systematic search in PubMed,EMBASE,Cochrane,Web of Science and Scopus databases,in order to produce a systematic review assessing the carrier frequency of HLA-DQB1*02 allele in the celiac population.Following the PRISMA guidelines,we retrieved all the original articles describing CD patients’HLA-DQB1 genotype in such a way that could allow to assess the HLADQB1*02 carrier frequency among CD patients,along with the evidence of the appropriate diagnostic work-up to achieve a correct and final diagnosis of CD.RESULTS The final output of this systematic search in the medical literature consisted of 38 studies providing the appropriate HLA-DQB1 genotype information of the respective CD population.According to this systematic review,including a pool of 4945 HLA-DQ genotyped CD patients,the HLA-DQB1*02 carrier frequency was 94.94%,meaning that only 5.06%of CD patients were completely lacking this allelic variant.Interestingly,if we consider only the studies whereby the prevalence of CD patients affected with type 1 diabetes mellitus was supposed or clearly established to be very low,the frequency of non-HLA-DQB1*02 carriers among CD patients dropped to 3.65%.CONCLUSION Such a high carrier frequency of the HLA-DQB1*02 allelic variant(which is>95%-96%in CD patients without risk factors,like type 1 diabetes mellitus comorbidity)might be exploited to consider a cost-effective and widened screening approach.If a sustainable strategy could be implemented through a low-cost targeted genetic test to detect the individual presence of HLA-DQB1*02 allele,an appropriate algorithm for serological screening in individuals resulting to be genetically predisposed to CD,might be considered.展开更多
Semi-dwarfing improves the lodging resistance and yield of rice,and the vast majority of modern rice varieties harbor the sd1 allele to decrease plant height,resulting in reduced genetic diversity and negative agronom...Semi-dwarfing improves the lodging resistance and yield of rice,and the vast majority of modern rice varieties harbor the sd1 allele to decrease plant height,resulting in reduced genetic diversity and negative agronomic traits.Thus,exploring alternative sources of dwarfism is imperative for rice breeding.Here,we identified a novel RGA1 allele,d1-w,from a local indica variety Xiaolixiang(XLX)using a map-based cloning approach.Compared with other rice varieties,RGA1 in XLX contained a unique single nucleotide polymorphism that resulted in an additional transcript and reduced functional RGA1 transcript level.The RGA1 from Nipponbare was introduced into XLX to estimate the value of d1-w in rice breeding.Compared with transgenic XLX plants(XLX^(D1)),XLX exhibited reduced plant height,increased stem strength,lower reactive oxygen species accumulation,delayed senescence,stronger photosynthesis,higher grain yield and quality(including external,milling and nutritional qualities),and enhanced resistance to drought and Rhizoctonia solani.Therefore,we proposed that the d1-w allele has potential as an excellent dwarfism resource for rice breeding.展开更多
Objective:The aim in this study was to identify the allelic frequencies of the chemokine (SDF1-3'A) and chemokine receptor (CCR5△32, CCR5m303 and CCR2-64I) genes resistant to HIV-1 infection and/or disease progre...Objective:The aim in this study was to identify the allelic frequencies of the chemokine (SDF1-3'A) and chemokine receptor (CCR5△32, CCR5m303 and CCR2-64I) genes resistant to HIV-1 infection and/or disease progression in indigenous Chinese populations. Methods: By using QIAamp DNA Blood Mini Kit, the genomic DNA samples were purified from whole peripheral blood of healthy individuals (n=2067) from Han, Uygur, Mongolian and Tibetan ethnic groups, as well as Han patients including HIV-1 carriers (n=330), patients with other sexually transmitted diseases (STDs, n=259) and intravenous drug users (IVDUs, n=125). The allelic polymorphisms were identified by means of PCR or PCR-RFLP analyses. The sequences of randomly selected amplified PCR products were further confirmed by direct DNA sequencing. Results: The mutant frequencies were identified to be 0%-3.48% for CCR5△32, 0% for CCR5m303,19.15%-28.79% for CCR2-64 and 19.10%-28.73% for SDF1-3'A alleles, respectively, in Chinese healthy individuals from four ethnic groups. Our findings indicated the allelic frequencies vary among the different ethnic groups. Furthermore, the HIV-1 carriers, STD cases and IVDUs (all of Han ethnicity) were found to have the allelic frequencies of 0%-0.19% (CCR5A32), 0% (CCR5m303), 19.31%-20.45% (CCR2-64) and 25.61%-26.83% (SDF1-3'A) with minor variations in their frequencies between the patients and healthy Han groups. There was no CCR5-m303 mutation found in any subject in this study. Conclusion: The examined subjects of four Chinese ethnic origins showed lower frequencies of CCR5A32 and CCR5m303 alleles, but higher frequencies of mutant CCR264I and SDF1-3'A alleles compared to those identified in northern-European and American Caucasians. The significance of the different frequencies and polymorphisms of the above alleles in Chinese populations needs to be further examined in HIV-1/AIDS diseases.展开更多
Objective:To compare the genotype frequencies of HLA class-ⅡDRB1 alleles in Giardia(G.)lamblia-infected children.Methods:A total of 490 Egyptian children aged 2-16 years were subjected to microscopic stool examinatio...Objective:To compare the genotype frequencies of HLA class-ⅡDRB1 alleles in Giardia(G.)lamblia-infected children.Methods:A total of 490 Egyptian children aged 2-16 years were subjected to microscopic stool examination to detect G.lamblia infection,and to exclude other intestinal pathogens.On the basis of their microscopic findings,a group of 80 children were chosen as giardiasis cases,another 80 children were confirmed as Giardia free control group by immunochromatographic test,and the remaining children were excluded.Both giardiasis and control groups were then subjected to blood examination to identify their genetic type of HLA-DRB1 alleles.Results:HLA class-ⅡDRB1*03:01 and DRB1*13:01 alleles were significantly associated with G.lamblia infection(P<0.001 for each variable).On the other hand,HLA class-ⅡDRB1*04:02,DRB1*10:01,DRB1*14:01 and DRB1*15:01 alleles were significantly demonstrated in Giardia free children.However,other HLA-DRB1 alleles did not show any significant association with giardiasis.Conclusions:HLA class-ⅡDRB1*03,DRB1*13,DRB1*04,DRB1*10,DRB1*14 and DRB1*15 alleles may be involved in the establishment of host immune response to G.lamblia infection.展开更多
目的从基因水平探讨湖北地区汉族人食管癌 HEN-DQB1等位基因的遗传易感性.方法运用序列特异性引物聚合酶链反应技术,检测无亲缘关系湖北汉族健康人136例、食管癌组42例患者的 HLA-DQB1等位基因.SAS system 统计软件数据处理.结果湖北汉...目的从基因水平探讨湖北地区汉族人食管癌 HEN-DQB1等位基因的遗传易感性.方法运用序列特异性引物聚合酶链反应技术,检测无亲缘关系湖北汉族健康人136例、食管癌组42例患者的 HLA-DQB1等位基因.SAS system 统计软件数据处理.结果湖北汉族人食管癌患者与正常人比较,HEN-DQB1*0301基因频率显著增高(0.2976 vs 0.1875),P=0.046,OR=1.835,病因分数=0.1354);两组间 HLA-DQB1其余各等位基因分布频率的比较,HLA-DQB1*0201(0.0833 vs 0.1016),*0301(0.2976 vs 0.1875),*0302(0.0595 vs 0859),*0303(0.2381 vs 0.1875),*0304(0.0000 vs 0.0039),*0401(0.0714 vs 0.0469),*0402(0.0119 vs 0.0156),*0501(0.0357 vs 0.0703),*0502(0.0595 vs 0.0664),*0503(0.0119 vs 0.0195),*0504(0.0000 vs 0.0039),*0601(0.0595 vs 0.0781),*0602(0.0476 vs 0.0742),*0603(0.0000 vs 0.0078),*0604(0.0238 vs 0.0508),差异均无显著性.结论 HLA-DQB1*0301等位基因与湖北汉族人食管癌正关联,为其易感基因.展开更多
基金the Nazarbayev University Faculty Development Competitive Research Grant 2020-2022,No.240919FD3912.
文摘BACKGROUND Celiac Disease(CD)is an immune-mediated disorder,in which the HLA immunogenetic background(DQ2 and DQ8 heterodimers)and environmental trigger(gluten)are well established.Indeed,both factors are necessary–but not sufficient–to develop CD.However,it is very likely that CD is underdiagnosed in both developing and developed countries,due to several aspects,including the fact that a lot of patients present mild and/or atypical symptoms,without the presence of any recognized risk factors.Therefore,the possibility and feasibility of widened screening strategies to identify CD patients are debated.AIM To provide further evidence of the main epidemiological importance of HLADQB1*02 allele in the population of CD patients.METHODS We performed a systematic search in PubMed,EMBASE,Cochrane,Web of Science and Scopus databases,in order to produce a systematic review assessing the carrier frequency of HLA-DQB1*02 allele in the celiac population.Following the PRISMA guidelines,we retrieved all the original articles describing CD patients’HLA-DQB1 genotype in such a way that could allow to assess the HLADQB1*02 carrier frequency among CD patients,along with the evidence of the appropriate diagnostic work-up to achieve a correct and final diagnosis of CD.RESULTS The final output of this systematic search in the medical literature consisted of 38 studies providing the appropriate HLA-DQB1 genotype information of the respective CD population.According to this systematic review,including a pool of 4945 HLA-DQ genotyped CD patients,the HLA-DQB1*02 carrier frequency was 94.94%,meaning that only 5.06%of CD patients were completely lacking this allelic variant.Interestingly,if we consider only the studies whereby the prevalence of CD patients affected with type 1 diabetes mellitus was supposed or clearly established to be very low,the frequency of non-HLA-DQB1*02 carriers among CD patients dropped to 3.65%.CONCLUSION Such a high carrier frequency of the HLA-DQB1*02 allelic variant(which is>95%-96%in CD patients without risk factors,like type 1 diabetes mellitus comorbidity)might be exploited to consider a cost-effective and widened screening approach.If a sustainable strategy could be implemented through a low-cost targeted genetic test to detect the individual presence of HLA-DQB1*02 allele,an appropriate algorithm for serological screening in individuals resulting to be genetically predisposed to CD,might be considered.
基金supported by grants from the National Natural Science Foundation of China (Grant Nos. 31960403 and 31501286)Jiangxi Natural Science Foundation-Outstanding Youth Science Fund Project,China (Grant No. 20212ACB215003)
文摘Semi-dwarfing improves the lodging resistance and yield of rice,and the vast majority of modern rice varieties harbor the sd1 allele to decrease plant height,resulting in reduced genetic diversity and negative agronomic traits.Thus,exploring alternative sources of dwarfism is imperative for rice breeding.Here,we identified a novel RGA1 allele,d1-w,from a local indica variety Xiaolixiang(XLX)using a map-based cloning approach.Compared with other rice varieties,RGA1 in XLX contained a unique single nucleotide polymorphism that resulted in an additional transcript and reduced functional RGA1 transcript level.The RGA1 from Nipponbare was introduced into XLX to estimate the value of d1-w in rice breeding.Compared with transgenic XLX plants(XLX^(D1)),XLX exhibited reduced plant height,increased stem strength,lower reactive oxygen species accumulation,delayed senescence,stronger photosynthesis,higher grain yield and quality(including external,milling and nutritional qualities),and enhanced resistance to drought and Rhizoctonia solani.Therefore,we proposed that the d1-w allele has potential as an excellent dwarfism resource for rice breeding.
基金This project was supported by grant from National Natural Sciences Foundation of the PR China(39770683)
文摘Objective:The aim in this study was to identify the allelic frequencies of the chemokine (SDF1-3'A) and chemokine receptor (CCR5△32, CCR5m303 and CCR2-64I) genes resistant to HIV-1 infection and/or disease progression in indigenous Chinese populations. Methods: By using QIAamp DNA Blood Mini Kit, the genomic DNA samples were purified from whole peripheral blood of healthy individuals (n=2067) from Han, Uygur, Mongolian and Tibetan ethnic groups, as well as Han patients including HIV-1 carriers (n=330), patients with other sexually transmitted diseases (STDs, n=259) and intravenous drug users (IVDUs, n=125). The allelic polymorphisms were identified by means of PCR or PCR-RFLP analyses. The sequences of randomly selected amplified PCR products were further confirmed by direct DNA sequencing. Results: The mutant frequencies were identified to be 0%-3.48% for CCR5△32, 0% for CCR5m303,19.15%-28.79% for CCR2-64 and 19.10%-28.73% for SDF1-3'A alleles, respectively, in Chinese healthy individuals from four ethnic groups. Our findings indicated the allelic frequencies vary among the different ethnic groups. Furthermore, the HIV-1 carriers, STD cases and IVDUs (all of Han ethnicity) were found to have the allelic frequencies of 0%-0.19% (CCR5A32), 0% (CCR5m303), 19.31%-20.45% (CCR2-64) and 25.61%-26.83% (SDF1-3'A) with minor variations in their frequencies between the patients and healthy Han groups. There was no CCR5-m303 mutation found in any subject in this study. Conclusion: The examined subjects of four Chinese ethnic origins showed lower frequencies of CCR5A32 and CCR5m303 alleles, but higher frequencies of mutant CCR264I and SDF1-3'A alleles compared to those identified in northern-European and American Caucasians. The significance of the different frequencies and polymorphisms of the above alleles in Chinese populations needs to be further examined in HIV-1/AIDS diseases.
文摘Objective:To compare the genotype frequencies of HLA class-ⅡDRB1 alleles in Giardia(G.)lamblia-infected children.Methods:A total of 490 Egyptian children aged 2-16 years were subjected to microscopic stool examination to detect G.lamblia infection,and to exclude other intestinal pathogens.On the basis of their microscopic findings,a group of 80 children were chosen as giardiasis cases,another 80 children were confirmed as Giardia free control group by immunochromatographic test,and the remaining children were excluded.Both giardiasis and control groups were then subjected to blood examination to identify their genetic type of HLA-DRB1 alleles.Results:HLA class-ⅡDRB1*03:01 and DRB1*13:01 alleles were significantly associated with G.lamblia infection(P<0.001 for each variable).On the other hand,HLA class-ⅡDRB1*04:02,DRB1*10:01,DRB1*14:01 and DRB1*15:01 alleles were significantly demonstrated in Giardia free children.However,other HLA-DRB1 alleles did not show any significant association with giardiasis.Conclusions:HLA class-ⅡDRB1*03,DRB1*13,DRB1*04,DRB1*10,DRB1*14 and DRB1*15 alleles may be involved in the establishment of host immune response to G.lamblia infection.
文摘目的从基因水平探讨湖北地区汉族人食管癌 HEN-DQB1等位基因的遗传易感性.方法运用序列特异性引物聚合酶链反应技术,检测无亲缘关系湖北汉族健康人136例、食管癌组42例患者的 HLA-DQB1等位基因.SAS system 统计软件数据处理.结果湖北汉族人食管癌患者与正常人比较,HEN-DQB1*0301基因频率显著增高(0.2976 vs 0.1875),P=0.046,OR=1.835,病因分数=0.1354);两组间 HLA-DQB1其余各等位基因分布频率的比较,HLA-DQB1*0201(0.0833 vs 0.1016),*0301(0.2976 vs 0.1875),*0302(0.0595 vs 0859),*0303(0.2381 vs 0.1875),*0304(0.0000 vs 0.0039),*0401(0.0714 vs 0.0469),*0402(0.0119 vs 0.0156),*0501(0.0357 vs 0.0703),*0502(0.0595 vs 0.0664),*0503(0.0119 vs 0.0195),*0504(0.0000 vs 0.0039),*0601(0.0595 vs 0.0781),*0602(0.0476 vs 0.0742),*0603(0.0000 vs 0.0078),*0604(0.0238 vs 0.0508),差异均无显著性.结论 HLA-DQB1*0301等位基因与湖北汉族人食管癌正关联,为其易感基因.
