Functional dyspepsia(FD) is a constellation of functional upper abdominal complaints with poorly elucidated pathophysiology. However, there is increasing evidence that susceptibility to FD is influenced by hereditary ...Functional dyspepsia(FD) is a constellation of functional upper abdominal complaints with poorly elucidated pathophysiology. However, there is increasing evidence that susceptibility to FD is influenced by hereditary factors. Genetic association studies in FD have examined genotypes related to gastrointestinal motility or sensation, as well as those related to inflammation or immune response. G-protein b3 subunit gene polymorphisms were first reported as being associated with FD. Thereafter, several gene polymorphisms including serotonin transporter promoter, interlukin-17 F, migration inhibitory factor, cholecystocynine-1 intron 1, cyclooxygenase-1, catechol-o-methyltransferase, transient receptor potential vanilloid 1 receptor, regulated upon activation normal T cell expressed and secreted, p22 PHOX, Toll like receptor 2, SCN10 A, CD14 and adrenoreceptors have been investigated in relation to FD; however, the results are contradictory. Several limitations underscore the value of current studies. Among others, inconsistencies in the definitions of FD and controls, subject composition differences regarding FD subtypes, inadequate samples, geographical and ethnical differences, as well as unadjusted environmental factors. Further well-designed studies are necessary to determine how targeted genes polymorphisms, influence the clinical manifestations and potentially the therapeutic response in FD.展开更多
目的研究5-羟色胺受体基因启动子区(5-HTTLPR)多态性与功能性消化不良(FD)发病之间的关系,为疾病提供临床治疗信息。方法计算机检索PubMed、EMbase、Web of Science、中国生物医学文献数据库、CNKI、万方等数据库,检索截止时间至2018年5...目的研究5-羟色胺受体基因启动子区(5-HTTLPR)多态性与功能性消化不良(FD)发病之间的关系,为疾病提供临床治疗信息。方法计算机检索PubMed、EMbase、Web of Science、中国生物医学文献数据库、CNKI、万方等数据库,检索截止时间至2018年5月18日,筛选5-HTTLPR基因多态性与FD发病相关研究,运用Stata 12.0软件进行Meta分析。结果共纳入6篇研究,S(短)及L(长)等位基因组成5种遗传模型。SS+LS vs LL模型与FD发病风险相关(OR=0.50,95%CI:0.25～0.98),其余遗传模型与FD发病无关(SS vs LL+LS:OR=1.02,95%CI:0.70～1.50;SS vs LL:OR=1.01,95%CI:0.68～1.50;SS vs LS:OR=1.08,95%CI:0.70～1.68;S vs L:OR=0.96,95%CI:0.81～1.14),亚洲人群SS+LS vs LL模型与FD发病风险相关(OR=0.53,95%CI:0.29～0.97),其余模型未见明显相关,高加索人群各遗传模型与FD发病风险无关。剔除一篇文章后,无论汇总结果还是亚组分析均提示各遗传模型与FD发病风险无明显相关。结论无论在亚洲还是高加索人群中,5-HTTLPR基因多态性与FD发病风险无明显相关。展开更多
Pyrabactin resistance 1-like proteins (PYLs) are direct receptors of abscisic acid (ABA). For the redundant and polymorphic functions, some members of the PYL family interact with components of other signaling pathway...Pyrabactin resistance 1-like proteins (PYLs) are direct receptors of abscisic acid (ABA). For the redundant and polymorphic functions, some members of the PYL family interact with components of other signaling pathways. Here, 253 positive colonies from a maize cDNA library were screened as interacting proteins with the members of ZmPYL family. After sequencing and function annotation, 17 of 28 interaction combinations were verified by yeast two-hybrid (Y2H). The germination potential, taproot length and proline content of a quartet mutant of Arabidopsis PYL genes were significantly deceased comparing to the wild type (WT) under alkaline stress (pH 8.5) and 100 μmol L–1 methyl jasmonate (MeJA) induction. The malondialdehyde (MDA) content was significantly increased. After germinating in darkness, the characteristics of dark morphogenesis of the quartet mutant seedlings were more obvious than those of the WT. The differential expression of the related genes of photomorphogenesis in the mutant was much more than that in the WT. Three light and two JA responsive cis-affecting elements were identified during the promoter sequences of the AtPYL1 and AtPYL2 genes. These results suggested that functional polymorphism has evolved among the members of ZmPYL family. In response to developmental and environmental stimuli, they not only function as direct ABA receptors but also interact with components of other signaling pathways mediated JA, brassinosteroid (BR), auxin, etc., and even directly regulate downstream stress-related proteins. These signaling pathways can interact at various crosstalk points and different levels of gene expression within a sophisticated network.展开更多
Innovations in genomics have enabled the development of low-cost,high-resolution,single nucleotide polymorphism(SNP)genotyping arrays that accelerate breeding progress and support basic research in crop science.Here,w...Innovations in genomics have enabled the development of low-cost,high-resolution,single nucleotide polymorphism(SNP)genotyping arrays that accelerate breeding progress and support basic research in crop science.Here,we developed and validated the Soy SNP618 K array(618,888 SNPs)for the important crop soybean.The SNPs were selected from whole-genome resequencing data containing 2,214 diverse soybean accessions;29.34%of the SNPs mapped to genic regions representing 86.85%of the 56,044annotated high-confidence genes.Identity-by-state analyses of 318 soybeans revealed 17 redundant accessions,highlighting the potential of the Soy SNP618 K array in supporting gene bank management.The patterns of population stratification and genomic regions enriched through domestication were highly consistent with previous findings based on resequencing data,suggesting that the ascertainment bias in the Soy SNP618 K array was largely compensated for.Genome-wide association mapping in combination with reported quantitative trait loci enabled fine-mapping of genes known to influence flowering time,E2 and Gm PRR3 b,and of a new candidate gene,Gm VIP5.Moreover,genomic prediction of flowering and maturity time in 502 recombinant inbred lines was highly accurate(>0.65).Thus,the Soy SNP618 K array is a valuable genomic tool that can be used to address many questions in applied breeding,germplasm management,and basic crop research.展开更多
文摘Functional dyspepsia(FD) is a constellation of functional upper abdominal complaints with poorly elucidated pathophysiology. However, there is increasing evidence that susceptibility to FD is influenced by hereditary factors. Genetic association studies in FD have examined genotypes related to gastrointestinal motility or sensation, as well as those related to inflammation or immune response. G-protein b3 subunit gene polymorphisms were first reported as being associated with FD. Thereafter, several gene polymorphisms including serotonin transporter promoter, interlukin-17 F, migration inhibitory factor, cholecystocynine-1 intron 1, cyclooxygenase-1, catechol-o-methyltransferase, transient receptor potential vanilloid 1 receptor, regulated upon activation normal T cell expressed and secreted, p22 PHOX, Toll like receptor 2, SCN10 A, CD14 and adrenoreceptors have been investigated in relation to FD; however, the results are contradictory. Several limitations underscore the value of current studies. Among others, inconsistencies in the definitions of FD and controls, subject composition differences regarding FD subtypes, inadequate samples, geographical and ethnical differences, as well as unadjusted environmental factors. Further well-designed studies are necessary to determine how targeted genes polymorphisms, influence the clinical manifestations and potentially the therapeutic response in FD.
文摘目的研究5-羟色胺受体基因启动子区(5-HTTLPR)多态性与功能性消化不良(FD)发病之间的关系,为疾病提供临床治疗信息。方法计算机检索PubMed、EMbase、Web of Science、中国生物医学文献数据库、CNKI、万方等数据库,检索截止时间至2018年5月18日,筛选5-HTTLPR基因多态性与FD发病相关研究,运用Stata 12.0软件进行Meta分析。结果共纳入6篇研究,S(短)及L(长)等位基因组成5种遗传模型。SS+LS vs LL模型与FD发病风险相关(OR=0.50,95%CI:0.25～0.98),其余遗传模型与FD发病无关(SS vs LL+LS:OR=1.02,95%CI:0.70～1.50;SS vs LL:OR=1.01,95%CI:0.68～1.50;SS vs LS:OR=1.08,95%CI:0.70～1.68;S vs L:OR=0.96,95%CI:0.81～1.14),亚洲人群SS+LS vs LL模型与FD发病风险相关(OR=0.53,95%CI:0.29～0.97),其余模型未见明显相关,高加索人群各遗传模型与FD发病风险无关。剔除一篇文章后,无论汇总结果还是亚组分析均提示各遗传模型与FD发病风险无明显相关。结论无论在亚洲还是高加索人群中,5-HTTLPR基因多态性与FD发病风险无明显相关。
文摘目的:探讨瘦素(leptin)基因启动子区-2548G/A功能多态性是否与首次抗精神病药物(antipsychotic agents,APS)治疗精神分裂症(schizophrenia,SCH)患者急性期体质量增加相关。方法:APS(利培酮或氯丙嗪)单药治疗10周,治疗前后测量体质量并计算体质量指数(body mass index,BMI)。采用PCR-RFLP技术分析84例首次治疗精神分裂症患者(包含完整核心家系70个)瘦素基因-2548 G/A基因型和等位基因分布频率,APS治疗所致体质量增加与瘦素-2548G/A多态性的关联分析及核心家系关联分析,采用传递不平衡检验(TDT)和数量性状传递不平衡检验(QTDT)。结果:治疗后患者体质量增加是基础体质量的(8.00±6.13)%。体质量增加≥7%和<7%患者组间瘦素基因-2548G/A多态性的等位基因在两组的分布差异有统计学意义(χ2=4.031,P=0.045)。核心家系分析采用TDT发现,在体质量增加≥7%组患者组存在传递不平衡,等位基因A更多的由杂合子父母传递给体质量增加≥7%的患者。结论:瘦素基因启动子区-2548G/A功能多态性与APS急性期治疗致精神分裂症患者体质量增加相关,-2548A等位基因可能是APS治疗所致肥胖的危险因素。
基金This study was supported by the National Key Science and Technology Special Project,China(2016ZX08003-004)the Sichuan Science and Technology Program,China(2018JY0470).We thank the technical support from the Key Laboratory of Biology and Genetic Improvement of Maize in Southwest Region,China.
文摘Pyrabactin resistance 1-like proteins (PYLs) are direct receptors of abscisic acid (ABA). For the redundant and polymorphic functions, some members of the PYL family interact with components of other signaling pathways. Here, 253 positive colonies from a maize cDNA library were screened as interacting proteins with the members of ZmPYL family. After sequencing and function annotation, 17 of 28 interaction combinations were verified by yeast two-hybrid (Y2H). The germination potential, taproot length and proline content of a quartet mutant of Arabidopsis PYL genes were significantly deceased comparing to the wild type (WT) under alkaline stress (pH 8.5) and 100 μmol L–1 methyl jasmonate (MeJA) induction. The malondialdehyde (MDA) content was significantly increased. After germinating in darkness, the characteristics of dark morphogenesis of the quartet mutant seedlings were more obvious than those of the WT. The differential expression of the related genes of photomorphogenesis in the mutant was much more than that in the WT. Three light and two JA responsive cis-affecting elements were identified during the promoter sequences of the AtPYL1 and AtPYL2 genes. These results suggested that functional polymorphism has evolved among the members of ZmPYL family. In response to developmental and environmental stimuli, they not only function as direct ABA receptors but also interact with components of other signaling pathways mediated JA, brassinosteroid (BR), auxin, etc., and even directly regulate downstream stress-related proteins. These signaling pathways can interact at various crosstalk points and different levels of gene expression within a sophisticated network.
基金supported by the Agricultural Science and Technology Innovation Program(ASTIP)of Chinese Academy of Agricultural Sciences(CAAS-ZDRW20210)the National Key Research and Development Program of China(nos.2020YFE0202300 and 2021YFD1201600)the Platform of National Crop Germplasm Resources of China(nos.2016-004 and 2017-004)。
文摘Innovations in genomics have enabled the development of low-cost,high-resolution,single nucleotide polymorphism(SNP)genotyping arrays that accelerate breeding progress and support basic research in crop science.Here,we developed and validated the Soy SNP618 K array(618,888 SNPs)for the important crop soybean.The SNPs were selected from whole-genome resequencing data containing 2,214 diverse soybean accessions;29.34%of the SNPs mapped to genic regions representing 86.85%of the 56,044annotated high-confidence genes.Identity-by-state analyses of 318 soybeans revealed 17 redundant accessions,highlighting the potential of the Soy SNP618 K array in supporting gene bank management.The patterns of population stratification and genomic regions enriched through domestication were highly consistent with previous findings based on resequencing data,suggesting that the ascertainment bias in the Soy SNP618 K array was largely compensated for.Genome-wide association mapping in combination with reported quantitative trait loci enabled fine-mapping of genes known to influence flowering time,E2 and Gm PRR3 b,and of a new candidate gene,Gm VIP5.Moreover,genomic prediction of flowering and maturity time in 502 recombinant inbred lines was highly accurate(>0.65).Thus,the Soy SNP618 K array is a valuable genomic tool that can be used to address many questions in applied breeding,germplasm management,and basic crop research.
基金This work was supported by the National Natural Science Foundation of China (No.30470577) and "the 10th Five Years Plan" Na-tional Tackle Problem Item (No.2001BA901A49).
