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.Characteristics of the chloroplast genome of Camellia insularis.
Jin ZHANG ; Yongbiao DENG ; Bo ZHAO
Chinese Journal of Biotechnology 2024;40(1):280-291
In this study, the chloroplast genome of Camellia insularis Orel & Curry was sequenced using high-throughput sequencing technology. The results showed that the chloroplast genome of C. insularis was 156 882 bp in length with a typical tetrad structure, encoding 132 genes, including 88 protein-coding genes, 36 tRNA genes, and 8 rRNA genes. Codon preference analysis revealed that the highest number of codons coded for leucine, with a high A/U preference in the third codon position. Additionally, 67 simple sequence repeats (SSR) loci were identified, with a preference for A and T bases. The inverted repeat (IR) boundary regions of the chloroplast genome of C. insularis were relatively conserved, except for a few variable regions. Phylogenetic analysis indicated that C. insularis was most closely related to C. fascicularis. Yellow camellia is a valuable material for genetic engineering breeding. This study provides fundamental genetic information on chloroplast engineering and offers valuable resources for conducting in-depth research on the evolution, species identification, and genomic breeding of yellow Camellia.
Genome, Chloroplast/genetics*
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Phylogeny
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Plant Breeding
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Camellia/genetics*
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Chloroplasts/genetics*
3.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*
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Proteomics
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Prospective Studies
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Obesity/genetics*
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Genomics
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Genome-Wide Association Study
5.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
6.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
7.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
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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
8.A Core Genome Multilocus Sequence Typing Scheme for Proteus mirabilis.
Sheng Lin CHEN ; Yu Tong KANG ; Yi He LIANG ; Xiao Tong QIU ; Zhen Jun LI
Biomedical and Environmental Sciences 2023;36(4):343-352
OBJECTIVE:
A core genome multilocus sequence typing (cgMLST) scheme to genotype and identify potential risk clonal groups (CGs) in Proteus mirabilis.
METHODS:
In this work, we propose a publicly available cgMLST scheme for P. mirabilis using chewBBACA. In total 72 complete P. mirabilis genomes, representing the diversity of this species, were used to set up a cgMLST scheme targeting 1,842 genes, 635 unfinished (contig, chromosome, and scaffold) genomes were used for its validation.
RESULTS:
We identified a total of 205 CGs from 695 P. mirabilis strains with regional distribution characteristics. Of these, 159 unique CGs were distributed in 16 countries. CG20 and CG3 carried large numbers of shared and unique antibiotic resistance genes. Nine virulence genes ( papC, papD, papE, papF, papG, papH, papI, papJ, and papK) related to the P fimbrial operon that cause severe urinary tract infections were only found in CG20. These CGs require attention due to potential risks.
CONCLUSION
This research innovatively performs high-resolution molecular typing of P. mirabilis using whole-genome sequencing technology combined with a bioinformatics pipeline (chewBBACA). We found that the CGs of P. mirabilis showed regional distribution differences. We expect that our research will contribute to the establishment of cgMLST for P. mirabilis.
Genome, Bacterial
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Proteus mirabilis/genetics*
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Multilocus Sequence Typing
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Molecular Epidemiology
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Genotype
9.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
10.Metagenomic Analysis of Environmental Samples from Wildlife Rescue Station at Poyang Lake, China.
Jia LIU ; Xi Yan LI ; Wen Tao SONG ; Xiao Xu ZENG ; Hui LI ; Lei YANG ; Da Yan WANG
Biomedical and Environmental Sciences 2023;36(7):595-603
OBJECTIVE:
To improve the understanding of the virome and bacterial microbiome in the wildlife rescue station of Poyang Lake, China.
METHODS:
Ten smear samples were collected in March 2019. Metagenomic sequencing was performed to delineate bacterial and viral diversity. Taxonomic analysis was performed using the Kraken2 and Bracken methods. A maximum-likelihood tree was constructed based on the RNA-dependent RNA polymerase (RdRp) region of picornavirus.
RESULTS:
We identified 363 bacterial and 6 viral families. A significant difference in microbial and viral abundance was found between samples S01-S09 and S10. In S01-S09, members of Flavobacteriia and Gammaproteobacteria were the most prevalent, while in S10, the most prevalent bacteria class was Actinomycetia. Among S01-S09, members of Myoviridae and Herelleviridae were the most prevalent, while the dominant virus family of S10 was Picornaviridae. The full genome of the pigeon mesivirus-like virus (NC-BM-233) was recovered from S10 and contained an open reading frame of 8,124 nt. It showed the best hit to the pigeon mesivirus 2 polyprotein, with 84.10% amino acid identity. Phylogenetic analysis showed that RdRp clustered into Megrivirus B.
CONCLUSION
This study provides an initial assessment of the bacteria and viruses in the cage-smeared samples, broadens our knowledge of viral and bacterial diversity, and is a way to discover potential pathogens in wild birds.
Animals
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Animals, Wild/genetics*
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Lakes
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Phylogeny
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Picornaviridae/genetics*
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Viruses/genetics*
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China
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Metagenomics
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Genome, Viral

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