Flavonoids constitute a major group of plant phenolic compounds.While extensively studied in Arabidopsis,profiling and naturally occurring variation of these compounds in rice（Oryza sativa）,the monocot model plant,a...Flavonoids constitute a major group of plant phenolic compounds.While extensively studied in Arabidopsis,profiling and naturally occurring variation of these compounds in rice（Oryza sativa）,the monocot model plant,are less reported.Using a collection of rice germplasm,comprehensive profiling and natural variation of flavonoids were presented in this report.Application of a widely targeted metabolomics method facilitated the simultaneous identification and quantification of more than 90 flavonoids using liquid chromatography tandem mass spectrometry（LC-MS/MS）.Comparing flavonoid contents in various tissues during different developmental stages revealed tissue-specific accumulation of most flavonoids.Further investigation indicated that flavone mono-C-glycosides,malonylated flavonoid O-hexosides,and some flavonoid O-glycosides accumulated at significantly higher levels in indica than in japonica,while the opposite was observed for aromatic acylated flavone C-hexosyl-O-hexosides.In contrast to the highly differential accumulation between the two subspecies,relatively small variations within subspecies were detected for most flavonoids.Besides,an association analysis between flavonoid accumulation and its biosynthetic gene sequence polymorphisms disclosed that natural variation of flavonoids was probably caused by sequence polymorphisms in the coding region of flavonoid biosynthetic genes.Our work paves the way for future dissection of biosynthesis and regulation of flavonoid pathway in rice.展开更多
Background Previous reports indicated that mutations in the adenosine triphosphate （ATP）-binding cassette transporter A3 （ABCA3） cause fatal respiratory failure in term infants, and common ABCA3 gene polymorphism...Background Previous reports indicated that mutations in the adenosine triphosphate （ATP）-binding cassette transporter A3 （ABCA3） cause fatal respiratory failure in term infants, and common ABCA3 gene polymorphisms have been characterized at the population level in Caucasians. But the role of ABCA3 in relation to respiratory distress syndrome （RDS） in newborns has not been evaluated within a Chinese population. The aim of this study was to analyze eight single-nucleotide polymorphisms （SNPs） of the ABCA3 gene, and to assess the ABCA3 gene as a candidate gene for susceptibility to RDS in newborns.Methods Eight SNPs were selected and genotyped in 203 newborns. The data analysis and statistical tests were used for allele frequencies, haplotype and Hardy-Weinberg equilibrium pairwise linkage disequilibrium measures. Results There was a haplotype association with SNP rs313909 and SNP rs170447, but no haplotype association was observed among the newborns with and without RDS （P 〉0.05）. The minor allele frequency （G） of the coding SNP （cSNP） rs323043 （P585P） was significantly increased in preterm infants with RDS.Conclusion There is an association between a synonymous cSNP rs323043 and the development of RDS.展开更多
目的探讨中国人群染色体9p21和1p13区域单核苷酸多态性(SNP)位点与急性心肌梗死(AMI)的关联强度,以及风险SNP位点的等位基因频率在中国东北、华北、东南3个区域人群之间的差异。方法采用病例对照研究,选择1999～2003年初发急性心肌梗死...目的探讨中国人群染色体9p21和1p13区域单核苷酸多态性(SNP)位点与急性心肌梗死(AMI)的关联强度,以及风险SNP位点的等位基因频率在中国东北、华北、东南3个区域人群之间的差异。方法采用病例对照研究,选择1999～2003年初发急性心肌梗死的患者1 148例作为病例组,选择非心血管病患者或正常人1 185例作为对照组,按年龄与性别进行匹配。共研究9p21、1p13、1p32、1q41、10q11、19p13第6个区域20个SNPs位点,利用Illumina Golden Gate技术和Bead-Studio软件包进行SNP分型,利用SAS/genetics、SAS/STAT和Haploview软件对结果进行分析和图形绘制。结果 9p21区域4个SNPs和1p13区域2个SNPs与中国人群急性心肌梗死发病风险存在关联性(多重Logistic回归,P<0.000 1),其中SNPrs10757274与急性心肌梗死关联性最强(P=0.006)。9p21区域4个SNPs(rs10757274、rs2383206、rs10757278和rs1333049)的GG纯合形态增加了急性心肌梗死的发病风险(OR=1.40,95%CI:1.10～1.79;OR=1.33,95%CI:1.04～1.69;OR=1.35,95%CI:1.07～1.72;OR=1.34,95%CI:1.06～1.71)。但是本研究并未发现1p32、1q41、10q11、19p13区域9个SNPs位点与急性心肌梗死存在明显关联。在正常对照组或急性心肌梗死组,中国东北和南方地区人群SNP rs646776的G等位基因频率高于北方地区,差异有统计学意义(P<0.05)。结论 SNP rs10757274是中国人群急性心肌梗死发生的易感位点。展开更多
目的通过对华中地区过敏性鼻炎患者进行致敏基因筛查,从分子水平了解其遗传病因及特点。方法采集华中地区216例过敏性鼻炎患者[女性113例,男性103例,均是汉族成年人,平均年龄（34.3±14.38）]外周静脉血,提取基因组DNA,利用焦磷酸...目的通过对华中地区过敏性鼻炎患者进行致敏基因筛查,从分子水平了解其遗传病因及特点。方法采集华中地区216例过敏性鼻炎患者[女性113例,男性103例,均是汉族成年人,平均年龄（34.3±14.38）]外周静脉血,提取基因组DNA,利用焦磷酸测序技术检测肺表面活性蛋白D（surfactant protein D,SP-D）单核苷酸多态性,并分析SP-D的rs721917、rs2243639及rs3088308位点等位基因频率。通过问卷调查和当场询问的方式询问每例患者的病史资料,包括家族史、母孕期有无致敏及用药史、出生时是否早产、生活环境、是否养宠物等,建立详尽的病史资料档案。结果过敏性鼻炎组rs721917位点CC基因型频率及等位基因C的频率显著高于对照组,基因型频率的相对风险分析发现,CC基因型患过敏性鼻炎的风险是TT型的2.847倍（比值比=2.847,95%可信区间为1.313-6.176）,有C等位基因者患过敏性鼻炎的危险性增加了1.633倍（比值比=1.633,95%可信区间为1.153-2.397）,提示rs721917位点等位基因C可能是中国汉族人群过敏性鼻炎的易感基因。rs2243639及rs3088308位点基因型频率和等位基因频率在过敏性鼻炎组和对照组间比较差异无统计学意义,这两个位点在过敏性鼻炎中不起关键性作用。结论 SP-D基因多态性是华中地区过敏性鼻炎群体患病的主要原因,rs721917是最常见的多态性位点,SP-D可能是影响过敏性鼻炎的重要候选基因。展开更多
Background： Interleukin （IL）-37, also called ILl F7, is a natural inhibitor of inflammatory and immune responses. It is involved in the pathogenesis of rheumatoid arthritis （RA）. This study aimed to investigate t...Background： Interleukin （IL）-37, also called ILl F7, is a natural inhibitor of inflammatory and immune responses. It is involved in the pathogenesis of rheumatoid arthritis （RA）. This study aimed to investigate the role oflL1F7 gene polymorphism in RA susceptibility in a large cohort of patients. Methods： Five selected single-nucleotide polynaorphisms in IL 1F7 genes （rs2723186, rs3811046, rs4241122, rs4364030, and rs4392270） were genotyped by TaqMan Allelic Discrimination in Northern Chinese Han population. The allele and the genotype were compared between patients with RA and healthy controls. Association analyses were performed on the entire data set and on different RA subsets based on the status of the anti-cyclic citrullinated peptide antibody and the rheumatoid factor by logistic regression, adjusting for age and gender. Results： Trend associations were detected between rs2723186, rs4241122, rs4392270, and RA in Stage I （160 patients with RA： 252 healthy controls）. Further validation in Stage II comprised 730 unrelated patients with RA （mean age： 54.9 ± 12.6 years; 81.6% females） and 778 unrelated healthy individuals （mean age： 53.5 ± 15.7 years; 79.5% females）. No significant differences in the distributions of alleles and genotypes were observed between the case and control groups in both the entire set and the different RA subsets. Disease activity and age of RA onset were also not associated with genotype distributions. Conclusion： 1L1F7 gene polymorphism does not significantly influence RA susceptibility in the Northern Chinese Hart population.展开更多
基金supported by the Major State Basic Research Development Program of China(2013CB127001)the National High Technology R&D Program of China(2012AA10A304)+1 种基金the National Natural Science Foundation of China(31070267)the Program for New Century Excellent Talents in University of Ministry of Education in China(NCET-09-0401)
文摘Flavonoids constitute a major group of plant phenolic compounds.While extensively studied in Arabidopsis,profiling and naturally occurring variation of these compounds in rice（Oryza sativa）,the monocot model plant,are less reported.Using a collection of rice germplasm,comprehensive profiling and natural variation of flavonoids were presented in this report.Application of a widely targeted metabolomics method facilitated the simultaneous identification and quantification of more than 90 flavonoids using liquid chromatography tandem mass spectrometry（LC-MS/MS）.Comparing flavonoid contents in various tissues during different developmental stages revealed tissue-specific accumulation of most flavonoids.Further investigation indicated that flavone mono-C-glycosides,malonylated flavonoid O-hexosides,and some flavonoid O-glycosides accumulated at significantly higher levels in indica than in japonica,while the opposite was observed for aromatic acylated flavone C-hexosyl-O-hexosides.In contrast to the highly differential accumulation between the two subspecies,relatively small variations within subspecies were detected for most flavonoids.Besides,an association analysis between flavonoid accumulation and its biosynthetic gene sequence polymorphisms disclosed that natural variation of flavonoids was probably caused by sequence polymorphisms in the coding region of flavonoid biosynthetic genes.Our work paves the way for future dissection of biosynthesis and regulation of flavonoid pathway in rice.
基金Correspondence to： DU Li-zhong, Depar This work was supported by a grant from the National Natural Science Foundation of China （No. 81070512）.Acknowledgements： We thank the Neonatal Intensive Care Unit staff for their collaboration for this work. The study was also supported by Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases.
文摘Background Previous reports indicated that mutations in the adenosine triphosphate （ATP）-binding cassette transporter A3 （ABCA3） cause fatal respiratory failure in term infants, and common ABCA3 gene polymorphisms have been characterized at the population level in Caucasians. But the role of ABCA3 in relation to respiratory distress syndrome （RDS） in newborns has not been evaluated within a Chinese population. The aim of this study was to analyze eight single-nucleotide polymorphisms （SNPs） of the ABCA3 gene, and to assess the ABCA3 gene as a candidate gene for susceptibility to RDS in newborns.Methods Eight SNPs were selected and genotyped in 203 newborns. The data analysis and statistical tests were used for allele frequencies, haplotype and Hardy-Weinberg equilibrium pairwise linkage disequilibrium measures. Results There was a haplotype association with SNP rs313909 and SNP rs170447, but no haplotype association was observed among the newborns with and without RDS （P 〉0.05）. The minor allele frequency （G） of the coding SNP （cSNP） rs323043 （P585P） was significantly increased in preterm infants with RDS.Conclusion There is an association between a synonymous cSNP rs323043 and the development of RDS.
文摘目的探讨中国人群染色体9p21和1p13区域单核苷酸多态性(SNP)位点与急性心肌梗死(AMI)的关联强度,以及风险SNP位点的等位基因频率在中国东北、华北、东南3个区域人群之间的差异。方法采用病例对照研究,选择1999～2003年初发急性心肌梗死的患者1 148例作为病例组,选择非心血管病患者或正常人1 185例作为对照组,按年龄与性别进行匹配。共研究9p21、1p13、1p32、1q41、10q11、19p13第6个区域20个SNPs位点,利用Illumina Golden Gate技术和Bead-Studio软件包进行SNP分型,利用SAS/genetics、SAS/STAT和Haploview软件对结果进行分析和图形绘制。结果 9p21区域4个SNPs和1p13区域2个SNPs与中国人群急性心肌梗死发病风险存在关联性(多重Logistic回归,P<0.000 1),其中SNPrs10757274与急性心肌梗死关联性最强(P=0.006)。9p21区域4个SNPs(rs10757274、rs2383206、rs10757278和rs1333049)的GG纯合形态增加了急性心肌梗死的发病风险(OR=1.40,95%CI:1.10～1.79;OR=1.33,95%CI:1.04～1.69;OR=1.35,95%CI:1.07～1.72;OR=1.34,95%CI:1.06～1.71)。但是本研究并未发现1p32、1q41、10q11、19p13区域9个SNPs位点与急性心肌梗死存在明显关联。在正常对照组或急性心肌梗死组,中国东北和南方地区人群SNP rs646776的G等位基因频率高于北方地区,差异有统计学意义(P<0.05)。结论 SNP rs10757274是中国人群急性心肌梗死发生的易感位点。
文摘目的通过对华中地区过敏性鼻炎患者进行致敏基因筛查,从分子水平了解其遗传病因及特点。方法采集华中地区216例过敏性鼻炎患者[女性113例,男性103例,均是汉族成年人,平均年龄（34.3±14.38）]外周静脉血,提取基因组DNA,利用焦磷酸测序技术检测肺表面活性蛋白D（surfactant protein D,SP-D）单核苷酸多态性,并分析SP-D的rs721917、rs2243639及rs3088308位点等位基因频率。通过问卷调查和当场询问的方式询问每例患者的病史资料,包括家族史、母孕期有无致敏及用药史、出生时是否早产、生活环境、是否养宠物等,建立详尽的病史资料档案。结果过敏性鼻炎组rs721917位点CC基因型频率及等位基因C的频率显著高于对照组,基因型频率的相对风险分析发现,CC基因型患过敏性鼻炎的风险是TT型的2.847倍（比值比=2.847,95%可信区间为1.313-6.176）,有C等位基因者患过敏性鼻炎的危险性增加了1.633倍（比值比=1.633,95%可信区间为1.153-2.397）,提示rs721917位点等位基因C可能是中国汉族人群过敏性鼻炎的易感基因。rs2243639及rs3088308位点基因型频率和等位基因频率在过敏性鼻炎组和对照组间比较差异无统计学意义,这两个位点在过敏性鼻炎中不起关键性作用。结论 SP-D基因多态性是华中地区过敏性鼻炎群体患病的主要原因,rs721917是最常见的多态性位点,SP-D可能是影响过敏性鼻炎的重要候选基因。
文摘Background： Interleukin （IL）-37, also called ILl F7, is a natural inhibitor of inflammatory and immune responses. It is involved in the pathogenesis of rheumatoid arthritis （RA）. This study aimed to investigate the role oflL1F7 gene polymorphism in RA susceptibility in a large cohort of patients. Methods： Five selected single-nucleotide polynaorphisms in IL 1F7 genes （rs2723186, rs3811046, rs4241122, rs4364030, and rs4392270） were genotyped by TaqMan Allelic Discrimination in Northern Chinese Han population. The allele and the genotype were compared between patients with RA and healthy controls. Association analyses were performed on the entire data set and on different RA subsets based on the status of the anti-cyclic citrullinated peptide antibody and the rheumatoid factor by logistic regression, adjusting for age and gender. Results： Trend associations were detected between rs2723186, rs4241122, rs4392270, and RA in Stage I （160 patients with RA： 252 healthy controls）. Further validation in Stage II comprised 730 unrelated patients with RA （mean age： 54.9 ± 12.6 years; 81.6% females） and 778 unrelated healthy individuals （mean age： 53.5 ± 15.7 years; 79.5% females）. No significant differences in the distributions of alleles and genotypes were observed between the case and control groups in both the entire set and the different RA subsets. Disease activity and age of RA onset were also not associated with genotype distributions. Conclusion： 1L1F7 gene polymorphism does not significantly influence RA susceptibility in the Northern Chinese Hart population.
