1.Genome-wide association analysis of agronomic traits related to eggplant fruits: a review.
Cheng LI ; Ting YANG ; Binxian ZHUANG ; Yongxian WEN
Chinese Journal of Biotechnology 2024;40(1):94-103
Eggplant is an important horticultural crop and one of the most widely grown vegetables in the Solanaceae family. Eggplant fruit-related agronomic traits are complex quantitative traits with low efficiency and long cycle time for traditional breeding selection. With the rapid development of high-throughput sequencing technology and bioinformatics tools, genome-wide association study (GWAS) has shown great application potential in analyzing the genetic rules of complex agronomic traits related to eggplant fruits. This paper first reviews the progress of genome-wide association analysis in eggplant fruit shape, fruit color and other fruit-related agronomic traits. Subsequently, aiming at the problem of missing heritability, which is common in the genetic studies of eggplant quantitative traits, this paper puts forward the development strategies of eggplant GWAS in the future based on the hot spots of application of four GWAS strategies in the research of agronomics traits related to eggplant fruits. Lastly, the application of GWAS strategy in the field of eggplant molecular breeding is expected to provide a theoretical basis and reference for the future use of GWAS to analyze the genetic basis of various eggplant fruit-related traits and to select fruit materials that meet consumer needs.
Solanum melongena/genetics*
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Fruit/genetics*
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Genome-Wide Association Study
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Plant Breeding
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Agriculture
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Vegetables
2.Proteome and genome integration analysis of obesity.
Qigang ZHAO ; Baixue HAN ; Qian XU ; Tao WANG ; Chen FANG ; Rui LI ; Lei ZHANG ; Yufang PEI
Chinese Medical Journal 2023;136(8):910-921
The prevalence of obesity has increased worldwide in recent decades. Genetic factors are now known to play a substantial role in the predisposition to obesity and may contribute up to 70% of the risk for obesity. Technological advancements during the last decades have allowed the identification of many hundreds of genetic markers associated with obesity. However, the transformation of current genetic variant-obesity associations into biological knowledge has been proven challenging. Genomics and proteomics are complementary fields, as proteomics extends functional analyses. Integrating genomic and proteomic data can help to bridge a gap in knowledge regarding genetic variant-obesity associations and to identify new drug targets for the treatment of obesity. We provide an overview of the published papers on the integrated analysis of proteomic and genomic data in obesity and summarize four mainstream strategies: overlap, colocalization, Mendelian randomization, and proteome-wide association studies. The integrated analyses identified many obesity-associated proteins, such as leptin, follistatin, and adenylate cyclase 3. Despite great progress, integrative studies focusing on obesity are still limited. There is an increased demand for large prospective cohort studies to identify and validate findings, and further apply these findings to the prevention, intervention, and treatment of obesity. In addition, we also discuss several other potential integration methods.
Humans
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Proteome/metabolism*
;
Proteomics
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Prospective Studies
;
Obesity/genetics*
;
Genomics
;
Genome-Wide Association Study
4.Associations of cholecystectomy with the risk of colorectal cancer: a Mendelian randomization study.
Lanlan CHEN ; Zhongqi FAN ; Xiaodong SUN ; Wei QIU ; Wentao MU ; Kaiyuan CHAI ; Yannan CAO ; Guangyi WANG ; Guoyue LV
Chinese Medical Journal 2023;136(7):840-847
BACKGROUND:
Cholecystectomy is a standard surgery for patients suffering from gallbladder diseases, while the causal effects of cholecystectomy on colorectal cancer (CRC) and other complications are still unknown.
METHODS:
We obtained genetic variants associated with cholecystectomy at a genome-wide significant level ( P value <5 × 10 -8 ) as instrumental variables (IVs) and performed Mendelian randomization (MR) to identify the complications of cholecystectomy. Furthermore, the cholelithiasis was also treated as the exposure to compare its causal effects to those of cholecystectomy, and multivariable MR analysis was carried out to judge whether the effect of cholecystectomy was independent of cholelithiasis. The study was reported based on Strengthening the Reporting of Observational Studies in Epidemiology Using Mendelian Randomization guidelines.
RESULTS:
The selected IVs explained 1.76% variance of cholecystectomy. Our MR analysis suggested that cholecystectomy cannot elevate the risk of CRC (odds ratio [OR] =1.543, 95% confidence interval [CI]: 0.607-3.924). Also, it was not significant in either colon or rectum cancer. Intriguingly, cholecystectomy might decrease the risk of Crohn's disease (OR = 0.078, 95% CI: 0.016-0.368) and coronary heart disease (OR = 0.352, 95% CI: 0.164-0.756). However, it might increase the risk of irritable bowel syndrome (IBS) (OR = 7.573, 95% CI: 1.096-52.318). Cholelithiasis could increase the risk of CRC in the largest population (OR = 1.041, 95% CI: 1.010-1.073). The multivariable MR analysis suggested that genetic liability to cholelithiasis could increase the risk of CRC in the largest population (OR = 1.061, 95% CI: 1.002-1.125) after adjustment of cholecystectomy.
CONCLUSIONS
The study indicated that cholecystectomy might not increase the risk of CRC, but such a conclusion needs further proving by clinical equivalence. Additionally, it might increase the risk of IBS, which should be paid attention to in clinical practice.
Humans
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Mendelian Randomization Analysis
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Irritable Bowel Syndrome
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Colorectal Neoplasms/genetics*
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Cholelithiasis/complications*
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Cholecystectomy/adverse effects*
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Genome-Wide Association Study
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Polymorphism, Single Nucleotide
5.Identification of novel candidate genes in East Asian COPD patients by the functional summary-based imputation and the unified test for molecular signatures: a transcriptome-wide association study.
Ye TIAN ; Shufang SHAN ; Qixue BAO ; Siquan ZHOU ; Xia JIANG ; Mengqiao WANG ; Shu YIN ; Jingyuan XIONG ; Guo CHENG
Chinese Medical Journal 2023;136(13):1612-1614
6.Construction and evaluation of the functional polygenic risk score for gastric cancer in a prospective cohort of the European population.
Yuanliang GU ; Caiwang YAN ; Tianpei WANG ; Beiping HU ; Meng ZHU ; Guangfu JIN
Chinese Medical Journal 2023;136(14):1671-1679
BACKGROUND:
A polygenic risk score (PRS) derived from 112 single-nucleotide polymorphisms (SNPs) for gastric cancer has been reported in Chinese populations (PRS-112). However, its performance in other populations is unknown. A functional PRS (fPRS) using functional SNPs (fSNPs) may improve the generalizability of the PRS across populations with distinct ethnicities.
METHODS:
We performed functional annotations on SNPs in strong linkage disequilibrium (LD) with the 112 previously reported SNPs to identify fSNPs that affect protein-coding or transcriptional regulation. Subsequently, we constructed an fPRS based on the fSNPs by using the LDpred2-infinitesimal model and then analyzed the performance of the PRS-112 and fPRS in the risk prediction of gastric cancer in 457,521 European participants of the UK Biobank cohort. Finally, the performance of the fPRS in combination with lifestyle factors were evaluated in predicting the risk of gastric cancer.
RESULTS:
During 4,582,045 person-years of follow-up with a total of 623 incident gastric cancer cases, we found no significant association between the PRS-112 and gastric cancer risk in the European population (hazard ratio [HR] = 1.00 [95% confidence interval (CI) 0.93-1.09], P = 0.846). We identified 125 fSNPs, including seven deleterious protein-coding SNPs and 118 regulatory non-coding SNPs, and used them to construct the fPRS-125. Our result showed that the fPRS-125 was significantly associated with gastric cancer risk (HR = 1.11 [95% CI, 1.03-1.20], P = 0.009). Compared to participants with a low fPRS-125 (bottom quintile), those with a high fPRS-125 (top quintile) had a higher risk of incident gastric cancer (HR = 1.43 [95% CI, 1.12-1.84], P = 0.005). Moreover, we observed that participants with both an unfavorable lifestyle and a high genetic risk had the highest risk of incident gastric cancer (HR = 4.99 [95% CI, 1.55-16.10], P = 0.007) compared to those with both a favorable lifestyle and a low genetic risk.
CONCLUSION
These results indicate that the fPRS-125 derived from fSNPs may act as an indicator to measure the genetic risk of gastric cancer in the European population.
Humans
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Prospective Studies
;
Stomach Neoplasms/genetics*
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Genetic Predisposition to Disease/genetics*
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Risk Factors
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Multifactorial Inheritance/genetics*
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Polymorphism, Single Nucleotide/genetics*
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Genome-Wide Association Study
7.Leukocyte Telomere Length and Lacunar Stroke: A Mendelian Randomization Study.
Mei Juan DANG ; Tao LI ; Li Li ZHAO ; Ye LI ; Xiao Ya WANG ; Yu Lun WU ; Jia Liang LU ; Zi Wei LU ; Yang YANG ; Yu Xuan FENG ; He Ying WANG ; Ya Ting JIAN ; Song Hua FAN ; Yu JIANG ; Gui Lian ZHANG
Biomedical and Environmental Sciences 2023;36(4):367-370
8.Advances in research methods for biosynthetic pathway analysis of active ingredients in traditional Chinese medicine.
Wen-Long SHI ; Jian WANG ; Ying MA ; Juan GUO ; Lu-Qi HUANG
China Journal of Chinese Materia Medica 2023;48(9):2273-2283
The active ingredients in traditional Chinese medicine(TCM)are the foundation for the efficiency of TCM and the key to the formation of Dao-di herbs. It is of great significance to study the biosynthesis and regulation mechanisms of these active ingredients for analyzing the formation mechanism of Daodi herbs and providing components for the production of active ingredients in TCM by synthetic biology. With the advancements in omics technology, molecular biology, synthetic biology, artificial intelligence, etc., the analysis of biosynthetic pathways for active ingredients in TCM is rapidly progressing. New methods and technologies have promoted the analysis of the synthetic pathways of active ingredients in TCM and have also made this area a hot topic in molecular pharmacognosy. Many researchers have made significant progress in analyzing the biosynthetic pathways of active ingredients in TCM such as Panax ginseng, Salvia miltiorrhiza, Glycyrrhiza uralensis, and Tripterygium wilfordii. This paper systematically reviewed current research me-thods for analyzing the biosynthetic functional genes of active ingredients in TCM, elaborated the mining of gene elements based on multiomics technology and the verification of gene functions in plants in vitro and in vivo with candidate genes as objects. Additionally, the paper summarized new technologies and methods that have emerged in recent years, such as high-throughput screening, molecular probes, genome-wide association studies, cell-free systems, and computer simulation screening to provide a comprehensive reference for the analysis of the biosynthetic pathways of active ingredients in TCM.
Medicine, Chinese Traditional
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Drugs, Chinese Herbal
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Artificial Intelligence
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Biosynthetic Pathways
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Computer Simulation
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Genome-Wide Association Study
9.Associations between vitamin D levels and systemic lupus erythematosus risk:a Mendelian randomized study.
Yun Qing REN ; Ji Peng LIU ; Yong CUI
Chinese Journal of Preventive Medicine 2023;57(6):891-898
Objective: To explore the causal effects of the serum Vitamin D levels on the risk of systemic lupus erythematosus (SLE). Methods: A two-sample Mendelian randomization (MR) study was performed to infer the causality. Three Genome-wide association studies (GWAS) for circulating Vitamin D levels, including 25-hydroxyvitamin D [25(OH)D], 25-hydroxyvitamin D3 [25(OH)D3] and C3-epimer of 25-hydroxyvitamin D3 [C3-epi-25(OH)D3] published in 2020, and one GWAS for SLE published in 2015 were utilized to analyze the causal effects of the serum Vitamin D levels on the risk of SLE. MR analyses were conducted using the inverse-variance weighted method (IVW), weighted median, MR-Egger methods, MR-pleiotropy residual sum and outlier (MR-PRESSO) method. Results: 34, 29 and 6 SNPs were respectively selected as instrumental variables to analyze the causal association of total 25 (OH) D level, 25 (OH) D3 level and C3-epi-25 (OH) D3 level with the risk of SLE. The MR results showed that each standard deviation decrease in the level of 25(OH)D3 would result in 14.2% higher risk of SLE (OR, 0.858; 95%CI, 0.753-0.978; P=0.022). The levels of 25(OH)D and C3-epi-25(OH)D3 had null associations with risk of SLE (OR, 0.849; 95%CI, 0.653-1.104; P=0.222; OR, 0.904; 95%CI, 0.695-1.176; P=0.452). Conclusion: This study have identified a causal effect of 25(OH)D3 on increased risk of SLE. These findings highlighted the significance of active monitoring and prevention of SLE in population of low Vitamin D levels.
Humans
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Genome-Wide Association Study
;
Vitamin D
;
Lupus Erythematosus, Systemic/complications*
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Vitamins
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Causality
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Mendelian Randomization Analysis/methods*
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Polymorphism, Single Nucleotide
10.Tea consumption and cancer: a Mendelian randomization study.
Chun Yu LIU ; Si CHENG ; Yuan Jie PANG ; Can Qing YU ; Dian Jian Yi SUN ; Pei PEI ; Jun Shi CHEN ; Zheng Ming CHEN ; Jun LYU ; Li Ming LI
Chinese Journal of Epidemiology 2023;44(7):1027-1036
Objective: A Mendelian randomization (MR) analysis was performed to assess the relationship between tea consumption and cancer. Methods: There were 100 639 participants with the information of gene sequencing of whole genome in the China Kadoorie Biobank. After excluding those with cancer at baseline survey, a total of 100 218 participants were included in this study. The baseline information about tea consumption were analyzed, including daily tea consumption or not, cups of daily tea consumption, and grams of daily tea consumption. We used the two-stage least square method to evaluate the associations between three tea consumption variables and incidence of cancer and some subtypes, including stomach cancer, liver and intrahepatic bile ducts cancer, colorectal cancer, tracheobronchial and lung cancer, and female breast cancer. Multivariable MR and analysis only among nondrinkers were used to control the impact of alcohol consumption. Sensitivity analyses were also performed, including inverse variance weighting, weighted median, and MR-Egger. Results: We used 54, 42, and 28 SNPs to construct non-weighted genetic risk scores as instrumental variables for daily tea consumption or not, cups of daily tea consumption, and grams of daily tea consumption, respectively. During an average of (11.4±3.0) years of follow-up, 6 886 cases of cancer were recorded. After adjusting for age, age2, sex, region, array type, and the first 12 genetic principal components, there were no significant associations of three tea consumption variables with the incidence of cancer and cancer subtypes. Compared with non-daily tea drinkers, the HR (95%CI) of daily tea drinkers for cancer and some subtypes, including stomach cancer, liver and intrahepatic bile ducts cancer, colorectal cancer, tracheobronchial and lung cancer, and female breast cancer, are respectively 0.99 (0.78-1.26), 1.17 (0.58-2.36), 0.86 (0.40-1.84), 0.85 (0.42-1.73), 1.39 (0.85-2.26) and 0.63 (0.28-1.38). After controlling the impact of alcohol consumption and performing multiple sensitivity analyses, the results were similar. Conclusion: There is no causal relationship between tea consumption and risk of cancer in population in China.
Humans
;
Female
;
Stomach Neoplasms/epidemiology*
;
Mendelian Randomization Analysis/methods*
;
Tea
;
Breast Neoplasms
;
Lung Neoplasms
;
Colorectal Neoplasms
;
Polymorphism, Single Nucleotide
;
Genome-Wide Association Study

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