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 105 publications over 16 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	8	9
2012	0	10	10
2013	1	8	9
2014	3	11	14
2015	3	6	9
2016	4	12	16
2017	2	4	6
2018	4	8	12
2019	2	1	3
2020	2	1	3
2021	0	3	3
2022	1	0	1
2024	0	3	3
2025	0	1	1

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

Dardas Z, Harrold L, Calame DG, Salter CG, Kikuma T, Guay KP, Ng BG, Sano K, Saad AK, Du H, Sangermano R, Patankar SG, Jhangiani SN, G?rsoy S, Abdel-Hamid MS, Ahmed MKH, Maroofian R, Kaiyrzhanov R, Salayev K, Jones WD, P?rez Caballero A, McGavin L, Spiller M, Durkie M, Wood N, O'Grady L, Goldenberg P, Neumeyer AM, Begtrup A, Abdel-Ghafar SF, Zaki MS, Van Esch H, Posey JE, Wenger OK, Scott EM, Bujakowska KM, Gibbs RA, Pehlivan D, Marafi D, Leslie JS, Ubeyratna N, Day J, Owens M, Settle J, Balkhy S, Tamim A, Alabdi L, Alkuraya FS, Takeda Y, Freeze HH, Hebert DN, Lupski JR, Crosby AH, Baple EL. Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation. Am J Hum Genet. 2025 May 01; 112(5):1139-1157.

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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 Dec 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 Apr; 197(4):e63940.

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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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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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Manakhov AD, Mintseva MY, Andreeva TV, Filimonov PA, Onokhov AA, Chernova I?, Kashtanov SN, Rogaev EI. Genome Analysis of Sable Fur Color Links a Lightened Pigmentation Phenotype to a Frameshift Variant in the Tyrosinase-Related Protein 1 Gene. Genes (Basel). 2021 01 25; 12(2).

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Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Salgado SA, Jimenez C, Fishbein L, Hamidi O, Else T, Lechan R, Tischler AS, Benn DE, Dwight T, Clifton-Bligh R, Sanso G, Barontini M, Vincent D, Aronin N, Biondi B, Koops M, Bowhay-Carnes E, Gimenez-Roqueplo AP, Alvarez-Eslava A, Bruder JM, Kitano M, Burnichon N, Ding Y, Dahia PLM. Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update. J Clin Endocrinol Metab. 2021 01 01; 106(1):e350-e364.

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Sims MC, Mayer L, Collins JH, Bariana TK, Megy K, Lavenu-Bombled C, Seyres D, Kollipara L, Burden FS, Greene D, Lee D, Rodriguez-Romera A, Alessi MC, Astle WJ, Bahou WF, Bury L, Chalmers E, Da Silva R, De Candia E, Deevi SVV, Farrow S, Gomez K, Grassi L, Greinacher A, Gresele P, Hart D, Hurtaud MF, Kelly AM, Kerr R, Le Quellec S, Leblanc T, Lein?e EB, Mapeta R, McKinney H, Michelson AD, Morais S, Nugent D, Papadia S, Park SJ, Pasi J, Podda GM, Poon MC, Reed R, Sekhar M, Shalev H, Sivapalaratnam S, Steinberg-Shemer O, Stephens JC, Tait RC, Turro E, Wu JKM, Zieger B, Kuijpers TW, Whetton AD, Sickmann A, Freson K, Downes K, Erber WN, Frontini M, Nurden P, Ouwehand WH, Favier R, Guerrero JA. Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome. Blood. 2020 10 22; 136(17):1956-1967.

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