1.Relationship between sterol carrier protein 2 gene and prostate cancer: Based on single-cell RNA sequencing combined with Mendelian randomization.
Jia-Xin NING ; Shu-Hang LUO ; Hao-Ran WANG ; Hui-Min HOU ; Ming LIU
National Journal of Andrology 2025;31(5):403-411
Objective: To investigate the relationship between the lipid metabolism-related gene sterol carrier protein 2(SCP2) and prostate cancer (PCa) from a multi-omics perspective using single-cell transcriptomes combined with Mendelian randomization. Methods: Single-cell transcriptome data of benign and malignant prostate tissues were obtained from GSE120716, GSE157703 and GSE141445 datasets, respectively. Integration, quality control and annotation were performed on the data to categorize the epithelial cells into high and low SCP2 expression groups, followed by further differential and trajectory analyses. Single nucleotide polymorphism (SNP) data for SCP2 expression quantitative trait loci (eQTL) were subsequently downloaded from Genotype-Tissue Expression (GTEx) and investigated from the PCa Society Cancer-Related Genomic Alteration Panel for the Investigation of Cancer-Related Alterations (PRACTICAL) to obtain PCa outcome data for Mendelian randomization analysis to validate the causal relationship between SCP2 and PCa. Results: High SCP2-expressing epithelial cells had higher energy metabolism and proliferation capacity with low immunotherapy response and metastatic tendency. Trajectory analysis showed that epithelial cells with high SCP2 expression may have a higher degree of malignancy, and SCP2 may be a key marker gene for differentiation of malignant epithelial cells in the prostate. Further Mendelian randomization results showed a significant causal relationship between SCP2 and PCa development (OR=1.045, 95% CI: 1.010 -1.083, P=0.011). Conclusion: By combining single-cell transcriptome and Mendelian randomization, the role of the lipid metabolism-related gene SCP2 in PCa development has been confirmed, and new targets and therapeutic directions for PCa treatment have been provided.
Humans
;
Prostatic Neoplasms/genetics*
;
Male
;
Mendelian Randomization Analysis
;
Polymorphism, Single Nucleotide
;
Quantitative Trait Loci
;
Single-Cell Analysis
;
Sequence Analysis, RNA
;
Carrier Proteins/genetics*
;
Transcriptome
;
Lipid Metabolism
2.Quantitative trait locus(QTL) mapping and candidate gene expression analysis of cold tolerance of rice at plumule and seedling stages.
Beibei ZHAO ; Zhining ZHANG ; Yanan JIANG ; Chengxiang HU ; Luyi ZHANG ; Jun LIU ; Jiangmin XU ; Yuexing WANG ; Yuchun RAO
Chinese Journal of Biotechnology 2025;41(10):3939-3955
Rice (Oryza sativa L.), as a thermophilic crop, is highly susceptible to cold stress during its growth process. Chilling injury at the plumule stage and seedling stage often affects the morphological development and leads to yield reduction of rice. The exploration and utilization of cold tolerance genes are among the most direct and effective approaches to address cold stress in rice. To identify quantitative trait loci (QTLs) associated with cold tolerance at plumule and seedling stages, in this study, we measured the seedling rates and survived seedling rates of the indica rice cultivar 'HZ', the japonica cultivar 'Nekken2', and their 120 recombinant inbred lines (RILs) under cold stress. A previously constructed high-density genetic linkage map was used for the mapping of the QTLs conferring cold tolerance at the plumule and seedling stages. A total of 4 QTLs for plumule-stage cold tolerance and 9 QTLs for seedling-stage cold tolerance were detected, with the maximum limit of detection reaching 5.20. Notably, a genetically overlapping QTL for both plumule and seedling stages was identified on chromosome 8, spanning a physical interval of 24 432 953-25 295 129 bp. Candidate genes within the detected QTL intervals were screened, and quantitative real-time polymerase chain reaction (qRT-PCR) was conducted to analyze the gene expression during the plumule and seedling stages. The results revealed that LOC_Os03g06570, LOC_Os03g07100, LOC_Os06g08280, LOC_Os08g38440, LOC_Os08g39100, and LOC_Os08g39540 exhibited significantly differential expression between the parental lines. These genes were either significantly downregulated or upregulated under cold stress. Among them, the first three gene (LOC_Os03g06570, LOC_Os03g07100, and LOC_Os06g08280) were hypothesized to be key candidates regulating the cold tolerance of rice seedlings, while the latter three genes (LOC_Os08g38440, LOC_Os08g39100, and LOC_Os08g39540) were identified as comprehensive regulators of cold tolerance during both plumule and seedling stages. These findings lay a foundation for the fine mapping and cloning of cold tolerance genes at the plumule and seedling stages, providing valuable insights for breeding cold-tolerant rice varieties.
Quantitative Trait Loci/genetics*
;
Oryza/growth & development*
;
Seedlings/growth & development*
;
Cold Temperature
;
Chromosome Mapping
;
Gene Expression Regulation, Plant
3.Mapping of QTL associated with rice cooking quality and candidate gene analysis.
Qiaona LE ; Ziwen HUANG ; Ruohui DAI ; Sanfeng LI ; Mengjia LI ; Yuan FANG ; Yuexing WANG ; Yuchun RAO
Chinese Journal of Biotechnology 2024;40(1):122-136
Excavating the quantitative trait locus (QTL) associated with rice cooking quality, analyzing candidate genes, and improving cooking quality-associated traits of rice varieties by genetic breeding can effectively improve the taste of rice. In this study, we used the indica rice HZ, the japonica rice Nekken2 and 120 recombinant inbred lines (RILs) populations constructed from them as experimental materials to measure the gelatinization temperature (GT), gel consistency (GC) and amylose content (AC) of rice at the maturity stage. We combined the high-density genetic map for QTL mapping. A total of 26 QTLs associated with rice cooking quality (1 QTL associated with GT, 13 QTLs associated with GC, and 12 QTLs associated with AC) were detected, among which the highest likelihood of odd (LOD) value reached 30.24. The expression levels of candidate genes in the localization interval were analyzed by quantitative real-time polymerase chain reaction (qRT-PCR), and it was found that the expression levels of six genes were significantly different from that in parents. It was speculated that the high expression of LOC_Os04g20270 and LOC_Os11g40100 may greatly increase the GC of rice, while the high expression of LOC_Os01g04920 and LOC_Os02g17500 and the low expression of LOC_Os03g02650 and LOC_Os05g25840 may reduce the AC. The results lay a molecular foundation for the cultivation of new high-quality rice varieties, and provide important genetic resources for revealing the molecular regulation mechanism of rice cooking quality.
Quantitative Trait Loci
;
Oryza/genetics*
;
Plant Breeding
;
Cooking
;
Genetic Association Studies
4.The Genetic Association between CDKN1A and Heart Failure: Genome-Wide Exploration of m 6A-SNPs and Mendelian Randomization.
Ziyi YANG ; Zhennan LIN ; Xiaotong NING ; Xingbo MO ; Laiyuan WANG ; Xiangfeng LU ; Shufeng CHEN
Biomedical and Environmental Sciences 2024;37(12):1397-1413
OBJECTIVE:
N6-methyladenosine (m 6A) is a common epigenetic modification in eukaryotes. In this study, we explore the potential impact of m 6A-associated single nucleotide polymorphisms (m 6A-SNPs) on heart failure (HF).
METHODS:
Data from genome-wide association studies (GWAS) investigating HF in humans and from m 6A-SNPs datasets were used to identify HF-associated m 6A-SNPs. Their functions were explored using expression quantitative trait locus (eQTL), gene expression, and gene enrichment analyses. Mediation protein quantitative trait locus (pQTL)-Mendelian randomization (MR) was used to investigate the potential mechanism between critical protein levels and risk factors for HF.
RESULTS:
We screened 44 HF-associated m 6A-SNPs, including 10 m 6A-SNPs that showed eQTL signals and differential expressions in HF. The SNP rs1801270 in CDKN1A showed the strongest association with HF ( P = 7.75 × 10 -6). Additionally, MR verified the genetic association between the CDKN1A protein and HF, as well as the mediating effect of blood pressure (BP) in this pathway. Higher circulating level of CDKN1A was associated with a lower risk of HF (odds ratio [ OR] = 0.82, 95% confidence interval [ CI]: 0.69 to 0.99). The proportions of hypertension, systolic BP, and diastolic BP were 48.10%, 28.94%, and 18.02%, respectively. Associations of PDIA6 ( P = 1.30 × 10 -2) and SMAD3 ( P = 4.80 × 10 -2) with HF were also detected.
CONCLUSION
Multiple HF-related m 6A-SNPs were identified in this study. Genetic associations of CDKN1A and other proteins with HF and its risk factors were demonstrated, providing new ideas for further exploration of the molecular mechanisms of HF.
Humans
;
Polymorphism, Single Nucleotide
;
Heart Failure/genetics*
;
Mendelian Randomization Analysis
;
Genome-Wide Association Study
;
Cyclin-Dependent Kinase Inhibitor p21/metabolism*
;
Quantitative Trait Loci
;
Adenosine/metabolism*
;
Male
;
Female
;
Genetic Predisposition to Disease
5.Comparison of agronomic traits of Panax notoginseng between traditional cultivated fields and new cultivated fields.
Dong-Mei ZHENG ; Li WANG ; Xiao-Hong OU ; Lan-Ping GUO ; Qing-Xiu HAO ; Da-Hui LIU ; Yan-Bo XIAO
China Journal of Chinese Materia Medica 2014;39(4):558-565
OBJECTIVEIn order to provide scientific basis for introduction breeding and production regionalization of Panax notoginseng, the environment of producing area, agronomic traits and medicinal material output were investigated.
METHODUsing field survey sampling at harvest time, agronomic traits indicators of leaf segment, stem segment and roots segment etc. of commodity P. notoginseng, longitude and latitude, elevation, soil type, landform of producing area were measured and observed.
RESULTThe P. notogiseng cultivation was expanding from traditional area like Wenshang to new areas as Honghe, Kunming, Qujing at large scale. Comparing with traditional cultivated fields, the elevation of new fields, which are red soil of moderate or low mountain slopes and gentle hills between 1 800-2 130 m, increases markedly. The agronomic traits of new cultivated fields such as plant height, stem diameter, the ground and underground biomass were better than those of traditional cultivated fields in varying degree. Furthermore, the root weight, taproot weight, taproot length and other agronomic index augmented more than 20%. Comparison among different cultivated fields showed P. notoginseng of Honghe Shiping Niujie, Kunming Shilin Guishan, Honghe Jiangshui Guanting etc. had better agronomic traits, the plant were thick and tall, the taproot and the top of reed were large, the number of root was more. Inversely, P. notoginseng of Kunming Guandu Xiaoshao, Guangxi Jingxi Lutong, Wenshang Yanshan Jiangna were thin and small. Cluster analysis showed that cultivated fields of P. notoginseng which was across clustered by traditional and new cultivated fields can be divided into three groups, including a high-yielding region insist of three new cultivated fields Honghe Shiping Niujie, Kunming Shilin Guishan, Honghe Jiangshui Guanting and one traditional cultivated field Wenshan Yanshan Jiangna. Correlation analysis indicated that the size and weight of taproot and top of reed were significantly positive correlated with plant height, stem diameter, leaf size, leaf weight and stem weight. Regression analysis pointed out that stem diameter, leaf width, leaf length/width, leaf weight were the main factors affecting the dry weight of taproot, and the main factors influencing the dry weight of top of reed were plant height, petiole, leaf length, leaf width and other agronomic traits.
CONCLUSIONFrom agronomic traits, P. notoginseng in new cultivated fields were more robust than that in traditional fields, but besides the length of taproot, the difference of rest agronomic traits didn't reach the significant level. It is suggested that, in the west and the north of traditional area, the red soil land of moderate or low mountain slopes and gentle hills where the elevation is between 1 800-2 130 m is suitable for cultivating P. notoginseng. Honghe Shiping Niujie, Honghe Jianshui Guanting, Kuming Shilin Gongshan can be used as vital development area for commodity P. notoginseng.
Agriculture ; methods ; Breeding ; China ; Drugs, Chinese Herbal ; analysis ; Panax notoginseng ; chemistry ; classification ; genetics ; growth & development ; Quality Control ; Quantitative Trait Loci ; Soil ; chemistry
6.Numerical taxonomy of agronomic trait in cultivated Lonicera japonica.
Shan-Shan ZHANG ; Lu-Qi HUANG ; Yuan YUAN ; Ping CHEN
China Journal of Chinese Materia Medica 2014;39(8):1379-1385
Sixty-three morphological traits from 743 specimens of the 41 taxa within the cultivated Lonicera japonica were observed and measured, such as the height of plants, the length of leaf, the width of leaf, the length of anther, the alabastrum's number of one branch, the color of alabastrum and so on. A numerical taxonomy is presented by using the cluster analysis, principal components analysis (PCA) and factor analysis. Sixteen of 63 characters were screened by means of PCA and used for cluster analysis of 41 taxa with the method of Ward linkage and average euclidean distance. The cluster analysis showed that the 41 taxa could be divided into 5 groups when the Euclidean distance coefficient was 11.84. The factor analysis indicated that the shape of leaf, color of alabastrum, the pilosity and color of twiggery were of significance for the cultivated L. japonica classification. The results of this study will be a base for the core collection and breeding of L. japonica.
Breeding
;
China
;
Flowers
;
chemistry
;
classification
;
genetics
;
Lonicera
;
chemistry
;
classification
;
genetics
;
growth & development
;
Plant Leaves
;
chemistry
;
classification
;
genetics
;
Quantitative Trait Loci
7.Combined Genome-Wide Linkage and Association Analyses of Fasting Glucose Level in Healthy Twins and Families of Korea.
Young Ju SUH ; Sunghwan KIM ; So Hun KIM ; Jia PARK ; Hyun Ae LIM ; Hyun Ju PARK ; Hangseok CHOI ; Daniel NG ; Mi Kyeong LEE ; Moonsuk NAM
Journal of Korean Medical Science 2013;28(3):415-423
This study was undertaken to identify genetic polymorphisms that are associated with the risk of an elevated fasting glucose (FG) level using genome-wide analyses. We explored a quantitative trait locus (QTL) for FG level in a genome-wide study from a Korean twin-family cohort (the Healthy Twin Study) using a combined linkage and family-based association analysis approach. We investigated 1,754 individuals, which included 432 families and 219 pairs of monozygotic twins. Regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2, were found to show evidence of linkage with FG level, and several markers in these regions were found to be significantly associated with FG level using family-based or general association tests. In particular, a single-nucleotide polymorphism (rs6138953) on the PTPRA gene in the 20p13 region (combined P = 1.8 x 10(-6)) was found to be associated with FG level, and the PRKCB1 gene (in 16p12.1) to be possibly associated with FG level. In conclusion, multiple regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2 are associated with FG level in our Korean twin-family cohort. The combined approach of genome-wide linkage and family-based association analysis is useful to identify novel or known genetic regions concerning FG level in a family cohort study.
Adult
;
Aged
;
Asian Continental Ancestry Group/*genetics
;
Blood Glucose/*genetics
;
Chromosomes, Human, Pair 15/genetics
;
Chromosomes, Human, Pair 16/genetics
;
Chromosomes, Human, Pair 2/genetics
;
Chromosomes, Human, Pair 20/genetics
;
Cohort Studies
;
Family
;
Female
;
*Genetic Linkage
;
*Genome-Wide Association Study
;
Genotype
;
Humans
;
Male
;
Middle Aged
;
Polymorphism, Single Nucleotide
;
Protein Kinase C/genetics
;
Quantitative Trait Loci
;
Receptor-Like Protein Tyrosine Phosphatases, Class 4/*genetics
;
Republic of Korea
;
Twins, Monozygotic/*genetics
8.Field experiment of F1 generation and superior families selection of Dendrobium officinale.
Xiao-Ling ZHANG ; Jin-Ping SI ; Ling-Shang WU ; Ying-Ying GUO ; Jie YU ; Lin-Hua WANG
China Journal of Chinese Materia Medica 2013;38(22):3861-3865
Based on randomized block design of experiment, agronomic traits and yields of 14 F1 generations of Dendrobium officinale were determined. The results showed that the differences in agronomic traits and yields among families were significant, and the hybrid vigor was obvious. Families of 6b x 2a, 9 x 66 and 78 x 69 were selected with the remarkable superiority of yields, agronomic traits and product customization. Correlation analysis between agronomic traits and yields showed that plant height, stem diameter, leaf number, blade length and blade width were all significantly correlated with biological yields and economic yields. Among which, stem diameter, leaf number and blade length were the most significant, and an optimal linear regression model could be established. When the number of shoots was fewer than 4.5, both biological yields and economic yields increased with the increasing number of shoots, but it could not much affect yields when the number of shoots was larger than 4.5. Shoots number, stem diameter and leaf index were basic stability when compared biennial traits to annual, which could be used for early selection.
Biomass
;
Dendrobium
;
genetics
;
growth & development
;
Hybridization, Genetic
;
Plant Leaves
;
genetics
;
growth & development
;
Plant Stems
;
genetics
;
growth & development
;
Quantitative Trait Loci
9.Genome-wide association study with memory measures as a quantitative trait locus for schizophrenia.
Bo XIANG ; Jun-yao WU ; Xiao-hong MA ; Ying-cheng WANG ; Wei DENG ; Zhuang-fei CHEN ; Ming-li LI ; Qiang WANG ; Zong-ling HE ; Li-jun JIANG ; Tao LI
Chinese Journal of Medical Genetics 2012;29(3):255-259
OBJECTIVETo assess the association between gene polymorphisms and memory function through a genome-wide association study (GWAS) of schizophrenia and control group. Memory cognition was used as a quantitative trait (QT).
METHODSNinty-eight subjects with chronic schizophrenia and 60 matched controls were genotyped with HumanHap660 Bead Array. The results were correlated with quantitative traits including memory and memory delay.
RESULTSFive candidate genes, including RASGRF2 (rs401758, P = 8.03×10(-5)), PLCG2 (rs7185362, P= 4.54×10(-5)), LMO1 (rs484161, P=9.80×10(-7), CSMD1 (rs2469383, P= 2.77×10(-6)) and PRKG1 (rs7898516, P=6.94×10(-5)) were associated with memory cognition deficits.
CONCLUSIONUsing memory cognition as a quantitative trait, this Genome- wide association study has identified 5 susceptibility loci. With their association with nervous system development, neuronal growth, axon guidance and plasticity, brain development, above loci may play a role in the development of memory dysfunction in schizophrenia.
Adult ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; methods ; Humans ; Male ; Memory ; physiology ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Schizophrenia ; genetics ; Young Adult
10.Genetic variability and interrelationships of mainly quantitative traits in Glycyrrhiza uralensis cultivated population.
Fulai YU ; Yuqiang FANG ; Wenquan WANG ; Qiuling WANG ; Fengbo LIU
China Journal of Chinese Materia Medica 2011;36(18):2457-2461
OBJECTIVEThe main aim of the research was to evaluate genetic variability and interrelationships of mainly quantitative traits in 2-year population, and provide a basis for high-yield breeding of Glycyrrhiza uralensis.
METHODFour genotype G. uralensis population were transplanting in four different environment using complete randomized block design with three replication, and the 10 quantitative traits, including plant height (PH), stem diameter (SD), tiller number (TN), taproot length (TRL), root length (RL), root diameter (RD), diameter of 20 cm below the root head (D20), taperingness (TR), lateral root number (LRN) and root fresh weight (RFW) were measured in field.
RESULTThe difference among population for all evaluated traits were significant (P<0.05) through Duncan's multiple range tests, and the coefficient of variation of RFW and LRN were above 25%. The analysis of variance was used to evaluate the traits of four populations across to four different environment Genotype, environment and their interaction effect were significant (P<0.05) or highly significant (P<0.01) for mainly evaluated traits. Simple correlation between traits showed that PH, SD, LRN, RL, RD and D20 had highly significant (P<0.01) and positive correlation with RFW. Results of the path coefficient analyses showed that D20 had the greatest positive direct effect on RFW, followed by the traits of PH and RL.
CONCLUSIONSelection for increased D20, RL and PH would be the best indirect selection traits for increasing root yield. Meanwhile, ample genetic variability exists in the G. uralensis 2-year population, it could be used for breeding improvement of root yield.
Breeding ; methods ; Environment ; Genes, Modifier ; Glycyrrhiza uralensis ; genetics ; growth & development ; metabolism ; Phenotype ; Plant Roots ; genetics ; metabolism ; Plant Stems ; genetics ; metabolism ; Plants, Medicinal ; chemistry ; Quantitative Trait Loci ; genetics ; Quantitative Trait, Heritable

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