Genetic Association Studies

"Genetic Association Studies" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.

Descriptor ID	D056726
MeSH Number(s)	E05.393.385
Concept/Terms	Genetic Association Studies Genetic Association Studies Association Studies, Genetic Association Study, Genetic Genetic Association Study Studies, Genetic Association Study, Genetic Association Genotype-Phenotype Associations Genotype-Phenotype Associations Association, Genotype-Phenotype Associations, Genotype-Phenotype Genotype Phenotype Associations Genotype-Phenotype Correlation Genotype Phenotype Correlation Genotype-Phenotype Correlations Correlation, Genotype-Phenotype Correlations, Genotype-Phenotype Genotype Phenotype Correlations Genotype-Phenotype Association Genotype Phenotype Association Candidate Gene Analysis Candidate Gene Analysis Analyses, Candidate Gene Analysis, Candidate Gene Candidate Gene Analyses Gene Analyses, Candidate Gene Analysis, Candidate Candidate Gene Identification Candidate Gene Identification Gene Identification, Candidate Identification, Candidate Gene Candidate Gene Association Study Gene Discovery Discovery, Gene Candidate Gene Association Studies

Below are MeSH descriptors whose meaning is more general than "Genetic Association Studies".

Analytical, Diagnostic and Therapeutic Techniques and Equipment [E]
Investigative Techniques [E05]
Genetic Techniques [E05.393]
Genetic Association Studies [E05.393.385]

Below are MeSH descriptors whose meaning is more specific than "Genetic Association Studies".

Genetic Association Studies
Genome-Wide Association Study

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Genetic Association Studies" by people in this website by year, and whether "Genetic Association Studies" was a major or minor topic of these publications.

Bar chart showing 107 publications over 17 distinct years, with a maximum of 16 publications in 2016

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2009	0	1	1
2010	2	3	5
2011	1	7	8
2012	0	8	8
2013	2	8	10
2014	3	9	12
2015	3	6	9
2016	4	12	16
2017	2	4	6
2018	4	10	14
2019	3	1	4
2020	2	1	3
2021	0	5	5
2022	1	0	1
2024	0	3	3
2025	0	1	1
2026	0	1	1

Below are the most recent publications written about "Genetic Association Studies" by people in Profiles.

Fluri R, Coll-Tan? M, Brunet T, Cogne B, Conrad S, Nizon M, Nicita F, Travaglini L, Novelli A, Glissmeyer M, Peterson A, Buchan JG, Serber D, Meier K, G?rtner J, Diegmann S, Pingault V, Attie-Bitach T, Courtin T, Schneider MC, Hung W, Sahai I, O'Grady L, Steindl K, Mehta SG, Depienne C, Heron D, Keren B, Heide S, McKee S, Laccone F, Dyer LM, Melver C, Motter C, Jones WD, Wilson ZT, Vats D, Hu? K, Zweier C, Sticht H, Gregor A. De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms. Am J Hum Genet. 2026 Jul 02; 113(7):1543-1557.

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Rosado J, Fola AA, Cojean S, Sarrasin V, Copp?e R, Bailly J, Zaffaroulah R, Bouzayene A, Cic?ron L, Houz? L, Crudale R, Musset L, Thellier M, Pradines B, Clain J, Bailey JA, Houz? S. Assessment of ex vivo antimalarial drug efficacy in African Plasmodium falciparum parasite isolates, 2016-2023: a genotype-phenotype association study. EBioMedicine. 2025 Aug; 118:105835.

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Seddon JM, De D, Grunenkovaite L, Ferrara D. Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications. Invest Ophthalmol Vis Sci. 2024 12 02; 65(14):31.

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Grady LO, Zoltick ES, Zouk H, He W, Perez E, Clarke L, Gold J, Strong A, Sahai I, Yeo J, Green RC, Karaa A, Gold NB. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I. Am J Med Genet A. 2025 04; 197(4):e63940.

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Deciphering the impact of genomic variation on function. Nature. 2024 09; 633(8028):47-57.

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Seabrook A, Vasudevan A, Neville K, Gerstl B, Benn D, Smith J, Kirk J, Gill A, Clifton-Bligh R, Tucker K. Genotype-phenotype correlations in paediatric and adolescent phaeochromocytoma and paraganglioma: a cross-sectional study. Arch Dis Child. 2024 02 19; 109(3):201-208.

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Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Mat? S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies. Genes (Basel). 2023 01 23; 14(2).

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Del Rosario RCH, Poschmann J, Lim C, Cheng CY, Kumar P, Riou C, Ong ST, Gerges S, Hajan HS, Kumar D, Marzuki M, Lu X, Lee A, Wijaya GC, Rayan NA, Zhuang Z, Du Bruyn E, Chee CBE, Lee B, Lum J, Zolezzi F, Poidinger M, Rotzschke O, Khor CC, Wilkinson RJ, Wang YT, Chandy GK, De Libero G, Singhal A, Prabhakar S. Histone acetylome-wide associations in immune cells from individuals with active Mycobacterium tuberculosis infection. Nat Microbiol. 2022 02; 7(2):312-326.

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Stevens SJC, Stumpel CTRM, Diderich KEM, van Slegtenhorst MA, Abbott MA, Manning C, Balciuniene J, Pyle LC, Leonard J, Murrell JR, van de Putte R, van Rooij IALM, Hoischen A, Lasko P, Brunner HG. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene. Clin Genet. 2022 02; 101(2):183-189.

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Seddon JM, Fortes M, Kelly-Smith M, Sommerlad SF, Hayward JJ, Burmeister L, De Risio L, Mellersh C, Freeman J, Strain GM. Deafness in Australian Cattle Dogs associated to QTL on chromosome 20 in genome-wide association study analyses. Anim Genet. 2021 Oct; 52(5):694-702.

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