3.8

CiteScore

2.4

Impact Factor
  • ISSN 1674-8301
  • CN 32-1810/R
Ping Zeng, Yang Zhao, Cheng Qian, Liwei Zhang, Ruyang Zhang, Jianwei Gou, Jin Liu, Liya Liu, Feng Chen. Statistical analysis for genome-wide association study[J]. The Journal of Biomedical Research, 2015, 29(4): 285-297. DOI: 10.7555/JBR.29.20140007
Citation: Ping Zeng, Yang Zhao, Cheng Qian, Liwei Zhang, Ruyang Zhang, Jianwei Gou, Jin Liu, Liya Liu, Feng Chen. Statistical analysis for genome-wide association study[J]. The Journal of Biomedical Research, 2015, 29(4): 285-297. DOI: 10.7555/JBR.29.20140007

Statistical analysis for genome-wide association study

Funds: 

National Natural Science Foundation of China (No. 81072389, 81373102, 81473070 and 81402765), Research Found for the Doctoral Program of Higher Education of China (No. 20113234110002), Key Grant of Natural Science Foundation of the Jiangsu Higher Education Institutions of China (No. 10KJA330034), College Philosophy and Social Science Foundation from Education Department of Jiangsu Province of China (No. 2013SJB790059, 2013SJD790032), Research Foundation from Xuzhou Medical College (No. 2012KJ02), Research and Innovation Project for College Graduates of Jiangsu Province of China (No. CXLX13_574) and the Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD).

More Information
  • Received Date: January 14, 2014
  • In the past few years, genome-wide association study (GWAS) has made great successes in identifying genetie susceptibility loci underlying many complex diseases and traits. The findings provide important genetic insights into understanding pathogenesis of diseases. In this paper, we present an overview of widely used approaches and strategies for analysis of GWAS, offered a general consideration to deal with GWAS data. The issues regarding data quality control, population structure, association analysis, multiple comparison and visual presentation of GWAS results are discussed; other advanced topics including the issue of missing heritability, meta-analysis, set- based association analysis, copy number variation analysis and GWAS cohort analysis are also briefly introduced.
  • Related Articles

    [1]Fei Qin, Hao Yu, Changrong Xu, Huihui Chen, Jianling Bai. Safety of axitinib and sorafenib monotherapy for patients with renal cell carcinoma: a meta-analysis[J]. The Journal of Biomedical Research, 2018, 32(1): 30-38. DOI: 10.7555/JBR.32.20170080
    [2]Xu Hu, Linfei Jiang, Chenhui Tang, Yuehong Ju, Li Jiu, Yongyue Wei, Li Guo, Yang Zhao. Association of three single nucleotide polymorphisms of ESR1 with breast cancer susceptibility: a meta-analysis[J]. The Journal of Biomedical Research, 2017, 31(3): 213-225. DOI: 10.7555/JBR.31.20160087
    [3]Wei Qian, Kuanfeng Xu, Wenting Jia, Ling Lan, Xuqin Zheng, Xueyang Yang, Dai Cui. Association between TSHR gene polymorphism and the risk of Graves' disease: a meta-analysis[J]. The Journal of Biomedical Research, 2016, 30(6): 466-475. DOI: 10.7555/JBR.30.20140144
    [4]Peng Zou, Lin Zhao, Haitao Xu, Ping Chen, Aihua Gu, Ning Liu, Peng Zhao, Ailin Lu. Hsa-mir-499 rs3746444 polymorphism and cancer risk: a meta-analysis[J]. The Journal of Biomedical Research, 2012, 26(4): 253-259. DOI: 10.7555/JBR.26.20110122
    [5]Zhiqiang Yin, Jiali Xu, Dan Luo. Efficacy and tolerance of tacrolimus and pimecrolimus for atopic dermatitis: a meta-analysis[J]. The Journal of Biomedical Research, 2011, 25(6): 385-391. DOI: 10.1016/S1674-8301(11)60051-1
    [6]Liang Zong, Ping Chen, Yinbing Chen, Guohao Shi. Pouch Roux-en-Y vs No Pouch Roux-en-Y following total gastrectomy: a meta-analysis based on 12 studies[J]. The Journal of Biomedical Research, 2011, 25(2): 90-99. DOI: 10.1016/S1674-8301(11)60011-0
    [7]Lifeng Zhang, Ning Shao, Qianqian Yu, Lixin Hua, Yuanyuan Mi, Ninghan Feng. Association between p53 Pro72Arg polymorphism and prostate cancer risk: a meta-analysis[J]. The Journal of Biomedical Research, 2011, 25(1): 25-32. DOI: 10.1016/S1674-8301(11)60003-1
    [8]Donghua Li, Jie Wu. Association of the MTHFR C677T polymorphism and bone mineral density in postmenopausal women: a meta-analysis[J]. The Journal of Biomedical Research, 2010, 24(6): 417-423. DOI: 10.1016/S1674-8301(10)60056-5
    [9]Yuanyuan Mi, Qianqian Yu, Zhichao Min, Bin Xu, Lifeng Zhang, Wei Zhang, Ninghan Feng, Lixin Hua. Arg462Gln and Asp541Glu polymorphisms in ribonuclease L and prostate cancer risk: a meta-analysis[J]. The Journal of Biomedical Research, 2010, 24(5): 365-373. DOI: 10.1016/S1674-8301(10)60049-8
    [10]Bingbing Wei, Yunyun Zhang, Bo Xi, Junkai Chang, Jinming Bai, Jiantang Su. CYP17 T27C polymorphism and prostate cancer risk:a meta-analysis based on 31 studies[J]. The Journal of Biomedical Research, 2010, 24(3): 233-241.
  • Cited by

    Periodical cited type(49)

    1. Lee SB, Hong KW, Park B, et al. Impact of genetic markers related to hyper-HDL cholesterol on the prevalence of myocardial infarction: a KoGES study. J Lipid Res, 2025, 66(4): 100777. DOI:10.1016/j.jlr.2025.100777
    2. Liu Y, Hou W, Gao T, et al. Influence and role of polygenic risk score in the development of 32 complex diseases. J Glob Health, 2025, 15: 04071. DOI:10.7189/jogh.15.04071
    3. Nawade B, Shim SH, Chu SH, et al. Integrative transcriptogenomic analyses reveal the regulatory network underlying rice eating and cooking quality and identify a role for alpha-globulin in modulating starch and sucrose metabolism. Plant Commun, 2025, 6(5): 101287. DOI:10.1016/j.xplc.2025.101287
    4. Lee SB, Hong KW, Park B, et al. Impact of genetic markers related to hyper-HDL cholesterol on the prevalence of myocardial infarction: a KoGES study. J Lipid Res, 2025, 66(4): 100777. DOI:10.1016/j.jlr.2025.100777
    5. Zhang S, Jiang Z, Zeng P. Incorporating genetic similarity of auxiliary samples into eGene identification under the transfer learning framework. J Transl Med, 2024, 22(1): 258. DOI:10.1186/s12967-024-05053-6
    6. Kang HY, Choe EK. Clinical Strategies in Gene Screening Counseling for the Healthy General Population. Korean J Fam Med, 2024, 45(2): 61-68. DOI:10.4082/kjfm.23.0254
    7. Lee SB, Choi JE, Hong KW, et al. Genetic Variants Linked to Myocardial Infarction in Individuals with Non-Alcoholic Fatty Liver Disease and Their Potential Interaction with Dietary Patterns. Nutrients, 2024, 16(5): 602. DOI:10.3390/nu16050602
    8. Zhang S, Jiang Z, Zeng P. Incorporating genetic similarity of auxiliary samples into eGene identification under the transfer learning framework. J Transl Med, 2024, 22(1): 258. DOI:10.1186/s12967-024-05053-6
    9. Zhang S, Jiang Z, Zeng P. Incorporating genetic similarity of auxiliary samples into eGene identification under the transfer learning framework. J Transl Med, 2024, 22(1): 258. DOI:10.1186/s12967-024-05053-6
    10. Kang HY, Choe EK. Clinical Strategies in Gene Screening Counseling for the Healthy General Population. Korean J Fam Med, 2024, 45(2): 61-68. DOI:10.4082/kjfm.23.0254
    11. Lee SB, Choi JE, Hong KW, et al. Genetic Variants Linked to Myocardial Infarction in Individuals with Non-Alcoholic Fatty Liver Disease and Their Potential Interaction with Dietary Patterns. Nutrients, 2024, 16(5): 602. DOI:10.3390/nu16050602
    12. Seo H, Park JH, Hwang JT, et al. Epigenetic Profiling of Type 2 Diabetes Mellitus: An Epigenome-Wide Association Study of DNA Methylation in the Korean Genome and Epidemiology Study. Genes (Basel), 2023, 14(12): 2207. DOI:10.3390/genes14122207
    13. Seo H, Park JH, Hwang JT, et al. Epigenetic Profiling of Type 2 Diabetes Mellitus: An Epigenome-Wide Association Study of DNA Methylation in the Korean Genome and Epidemiology Study. Genes (Basel), 2023, 14(12): 2207. DOI:10.3390/genes14122207
    14. Seo H, Park JH, Hwang JT, et al. Epigenetic Profiling of Type 2 Diabetes Mellitus: An Epigenome-Wide Association Study of DNA Methylation in the Korean Genome and Epidemiology Study. Genes (Basel), 2023, 14(12): 2207. DOI:10.3390/genes14122207
    15. Qiao J, Shao Z, Wu Y, et al. Detecting associated genes for complex traits shared across East Asian and European populations under the framework of composite null hypothesis testing. J Transl Med, 2022, 20(1): 424. DOI:10.1186/s12967-022-03637-8
    16. Padilla-Martinez F, Szczerbiński Ł, Citko A, et al. Testing the Utility of Polygenic Risk Scores for Type 2 Diabetes and Obesity in Predicting Metabolic Changes in a Prediabetic Population: An Observational Study. Int J Mol Sci, 2022, 23(24): 16081. DOI:10.3390/ijms232416081
    17. Muneeb M, Feng S, Henschel A. Transfer learning for genotype-phenotype prediction using deep learning models. BMC Bioinformatics, 2022, 23(1): 511. DOI:10.1186/s12859-022-05036-8
    18. Roh H. A genome-wide association study of the occurrence of genetic variations in Edwardsiella piscicida, Vibrio harveyi, and Streptococcus parauberis under stressed environments. J Fish Dis, 2022, 45(9): 1373-1388. DOI:10.1111/jfd.13668
    19. Zhang M, Qiao J, Zhang S, et al. Exploring the association between birthweight and breast cancer using summary statistics from a perspective of genetic correlation, mediation, and causality. J Transl Med, 2022, 20(1): 227. DOI:10.1186/s12967-022-03435-2
    20. Zhang M, Qiao J, Zhang S, et al. Exploring the association between birthweight and breast cancer using summary statistics from a perspective of genetic correlation, mediation, and causality. J Transl Med, 2022, 20(1): 227. DOI:10.1186/s12967-022-03435-2
    21. Padilla-Martinez F, Szczerbiński Ł, Citko A, et al. Testing the Utility of Polygenic Risk Scores for Type 2 Diabetes and Obesity in Predicting Metabolic Changes in a Prediabetic Population: An Observational Study. Int J Mol Sci, 2022, 23(24): 16081. DOI:10.3390/ijms232416081
    22. Muneeb M, Feng S, Henschel A. Transfer learning for genotype-phenotype prediction using deep learning models. BMC Bioinformatics, 2022, 23(1): 511. DOI:10.1186/s12859-022-05036-8
    23. O'Rielly DD, Rahman P. Genetic Epidemiology of Complex Phenotypes. Methods Mol Biol, 2021, 2249: 335-367. DOI:10.1007/978-1-0716-1138-8_19
    24. Monnot S, Desaint H, Mary-Huard T, et al. Deciphering the Genetic Architecture of Plant Virus Resistance by GWAS, State of the Art and Potential Advances. Cells, 2021, 10(11): 3080. DOI:10.3390/cells10113080
    25. Lu H, Zhang J, Jiang Z, et al. Detection of Genetic Overlap Between Rheumatoid Arthritis and Systemic Lupus Erythematosus Using GWAS Summary Statistics. Front Genet, 2021, 12: 656545. DOI:10.3389/fgene.2021.656545
    26. Petersen KS, Kris-Etherton PM, McCabe GP, et al. Perspective: Planning and Conducting Statistical Analyses for Human Nutrition Randomized Controlled Trials: Ensuring Data Quality and Integrity. Adv Nutr, 2021, 12(5): 1610-1624. DOI:10.1093/advances/nmab045
    27. Dennis JK, Sealock JM, Straub P, et al. Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease. Genome Med, 2021, 13(1): 6. DOI:10.1186/s13073-020-00820-8
    28. Lu H, Wei Y, Jiang Z, et al. Integrative eQTL-weighted hierarchical Cox models for SNP-set based time-to-event association studies. J Transl Med, 2021, 19(1): 418. DOI:10.1186/s12967-021-03090-z
    29. Lu H, Qiao J, Shao Z, et al. A comprehensive gene-centric pleiotropic association analysis for 14 psychiatric disorders with GWAS summary statistics. BMC Med, 2021, 19(1): 314. DOI:10.1186/s12916-021-02186-z
    30. Mkize N, Maiwashe A, Dzama K, et al. Suitability of GWAS as a Tool to Discover SNPs Associated with Tick Resistance in Cattle: A Review. Pathogens, 2021, 10(12): 1604. DOI:10.3390/pathogens10121604
    31. McGuire D, Jiang Y, Liu M, et al. Model-based assessment of replicability for genome-wide association meta-analysis. Nat Commun, 2021, 12(1): 1964. DOI:10.1038/s41467-021-21226-z
    32. Mkize N, Maiwashe A, Dzama K, et al. Suitability of GWAS as a Tool to Discover SNPs Associated with Tick Resistance in Cattle: A Review. Pathogens, 2021, 10(12): 1604. DOI:10.3390/pathogens10121604
    33. McGuire D, Jiang Y, Liu M, et al. Model-based assessment of replicability for genome-wide association meta-analysis. Nat Commun, 2021, 12(1): 1964. DOI:10.1038/s41467-021-21226-z
    34. Yamamoto A, Shibuya T. More practical differentially private publication of key statistics in GWAS. Bioinform Adv, 2021, 1(1): vbab004. DOI:10.1093/bioadv/vbab004
    35. Jin T, Youn J, Kim AN, et al. Interactions of Habitual Coffee Consumption by Genetic Polymorphisms with the Risk of Prediabetes and Type 2 Diabetes Combined. Nutrients, 2020, 12(8): 2228. DOI:10.3390/nu12082228
    36. Chen H, Wang T, Yang J, et al. Improved Detection of Potentially Pleiotropic Genes in Coronary Artery Disease and Chronic Kidney Disease Using GWAS Summary Statistics. Front Genet, 2020, 11: 592461. DOI:10.3389/fgene.2020.592461
    37. Himmerich H, Bentley J, Kan C, et al. Genetic risk factors for eating disorders: an update and insights into pathophysiology. Ther Adv Psychopharmacol, 2019, 9: 2045125318814734. DOI:10.1177/2045125318814734
    38. Sanyal N, Lo MT, Kauppi K, et al. GWASinlps: non-local prior based iterative SNP selection tool for genome-wide association studies. Bioinformatics, 2019, 35(1): 1-11. DOI:10.1093/bioinformatics/bty472
    39. Brinster R, Köttgen A, Tayo BO, et al. Control procedures and estimators of the false discovery rate and their application in low-dimensional settings: an empirical investigation. BMC Bioinformatics, 2018, 19(1): 78. DOI:10.1186/s12859-018-2081-x
    40. Brinster R, Köttgen A, Tayo BO, et al. Control procedures and estimators of the false discovery rate and their application in low-dimensional settings: an empirical investigation. BMC Bioinformatics, 2018, 19(1): 78. DOI:10.1186/s12859-018-2081-x
    41. Zeng P, Wang T, Huang S. Cis-SNPs Set Testing and PrediXcan Analysis for Gene Expression Data using Linear Mixed Models. Sci Rep, 2017, 7(1): 15237. DOI:10.1038/s41598-017-15055-8
    42. Zeng P, Zhou X, Huang S. Prediction of gene expression with cis-SNPs using mixed models and regularization methods. BMC Genomics, 2017, 18(1): 368. DOI:10.1186/s12864-017-3759-6
    43. Zeng P, Zhou X, Huang S. Prediction of gene expression with cis-SNPs using mixed models and regularization methods. BMC Genomics, 2017, 18(1): 368. DOI:10.1186/s12864-017-3759-6
    44. Zeng P, Wang T, Huang S. Cis-SNPs Set Testing and PrediXcan Analysis for Gene Expression Data using Linear Mixed Models. Sci Rep, 2017, 7(1): 15237. DOI:10.1038/s41598-017-15055-8
    45. Zhang Q, Zhao Y, Zhang R, et al. A Comparative Study of Five Association Tests Based on CpG Set for Epigenome-Wide Association Studies. PLoS One, 2016, 11(6): e0156895. DOI:10.1371/journal.pone.0156895
    46. Umehara H, Numata S, Tajima A, et al. Calcium Signaling Pathway Is Associated with the Long-Term Clinical Response to Selective Serotonin Reuptake Inhibitors (SSRI) and SSRI with Antipsychotics in Patients with Obsessive-Compulsive Disorder. PLoS One, 2016, 11(6): e0157232. DOI:10.1371/journal.pone.0157232
    47. Gasc C, Peyretaillade E, Peyret P. Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms. Nucleic Acids Res, 2016, 44(10): 4504-18. DOI:10.1093/nar/gkw309
    48. Zhang Q, Zhao Y, Zhang R, et al. A Comparative Study of Five Association Tests Based on CpG Set for Epigenome-Wide Association Studies. PLoS One, 2016, 11(6): e0156895. DOI:10.1371/journal.pone.0156895
    49. Gasc C, Peyretaillade E, Peyret P. Sequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms. Nucleic Acids Res, 2016, 44(10): 4504-18. DOI:10.1093/nar/gkw309

    Other cited types(0)

Catalog

    Feng Chen

    1. On this Site
    2. On Google Scholar
    3. On PubMed

    Article Metrics

    Article views (4943) PDF downloads (914) Cited by(49)
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return