Genome-wide Association Studies

Shaffer, John R.; Feingold, Eleanor; Marazita, Mary L.

doi:10.1177/0022034512446968

Cited by 17 publications

(4 citation statements)

References 20 publications

(25 reference statements)

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“…The Human Genome Project and International Human HapMap Project have provided reference information on genetic variations associated with complex diseases, and advances in microarray technology have now allowed large numbers of SNP markers to be screened at once 18–20 . However, GWAS based on a common variant hypothesis have generated controversy 21 .…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of MFGE8 are associated with susceptibility and clinical manifestations through gene expression modulation in Koreans with systemic lupus erythematosus

Baek

Woo

Jung

et al. 2019

Sci Rep

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Systemic lupus erythematosus (SLE) is characterized by impaired clearance of apoptotic cells. Milk fat globule epidermal growth factor 8 (MFGE8) is a protein that connects αvβ3 integrin on phagocytic macrophages with phosphatidylserine on apoptotic cells. We investigated whether genetic variation of the MFGE8 gene and serum MFGE8 concentration are associated with SLE. Single nucleotide polymorphisms (SNPs) were genotyped and serum concentrations were analyzed. The rs2271715 C allele and rs3743388 G allele showed higher frequency in SLE than in healthy subjects (HSs). Three haplotypes were found among 4 SNPs (rs4945, rs1878327, rs2271715, and rs3743388): AACG, CGCG, and CGTC. CGCG haplotype was significantly more common in SLE than in HSs. rs4945 was associated with the erythrocyte sedimentation rate and rs1878327 was associated with alopecia, C-reactive protein, complement 3, anti-dsDNA antibody, and high disease activity. rs2271715 and rs3743388 were associated with renal disease, cumulative glucocorticoid dose, and cyclophosphamide and mycophenolate mofetil use. Serum MFGE8 concentrations were significantly higher in SLE than in HSs. Furthermore, the levels of MFGE8 were significantly higher in SLE than HSs of the rs2271715 CC genotype. In conclusion, MFGE8 genetic polymorphisms are associated not only with susceptibility to SLE but also with disease activity through modulation of gene expression.

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Section: Discussionmentioning

confidence: 99%

Polymorphisms of MFGE8 are associated with susceptibility and clinical manifestations through gene expression modulation in Koreans with systemic lupus erythematosus

Baek

Woo

Jung

et al. 2019

Sci Rep

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“…A GWAS is a powerful method for investigating the association between genetic variations across the entire genome and specific traits or diseases. In dental studies, GWAS have been employed to identify genetic factors associated with various oral health conditions and traits [12] . These conditions include periodontal disease [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , dental caries [21] , [22] , [23] , [24] , [25] , [26] , [27] , dental abnormalities [25] , [28] , [29] , [30] , and craniofacial abnormalities [31] , [32] , [33] , [34] , [35] , [36] .…”

Section: Gwas In Dental Fieldsmentioning

confidence: 99%

Identification of disease-associate variants of aggressive periodontitis using genome-wide association studies

Fujihara,

Hafiyyah,

Murakami

2023

Japanese Dental Science Review

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“…In contrast, genetic variants fall within the introns, which could affect gene expression, alternative splicing, and DNA methylation, which represent a large portion of the associated loci and may be located at various physical distances from their targets. In this context, it is really hard to evaluate how genetic variants can affect the related phenotypic trait [ 58 ].…”

Section: Limitation Of High-throughput Screening Technologiesmentioning

confidence: 99%

Emerging Genetic Tools to Investigate Molecular Pathways Related to Heat Stress in Chickens: A Review

Perini

Cendron

Rovelli

et al. 2020

Animals

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Chicken products are the most consumed animal-sourced foods at a global level across greatly diverse cultures, traditions, and religions. The consumption of chicken meat has increased rapidly in the past few decades and chicken meat is the main animal protein source in developing countries. Heat stress is one of the environmental factors which decreases the productive performance of poultry and meat quality. Heat stress produces the over-expression of heat shock factors and heat shock proteins in chicken tissues. Heat shock proteins regulate several molecular pathways in cells in response to stress conditions, changing the homeostasis of cells and tissues. These changes can affect the physiology of the tissue and hence the production ability of chickens. Indeed, commercial chicken strains can reach a high production level, but their body metabolism, being comparatively accelerated, has poor thermoregulation. In contrast, native backyard chickens are more adapted to the environments in which they live, with a robustness that allows them to survive and reproduce constantly. In the past few years, new molecular tools have been developed, such as RNA-Seq, Single Nucleotide Polymorphisms (SNPs), and bioinformatics approaches such as Genome-Wide Association Study (GWAS). Based on these genetic tools, many studies have detected the main pathways involved in cellular response mechanisms. In this context, it is necessary to clarify all the genetic and molecular mechanisms involved in heat stress response. Hence, this paper aims to review the ability of the new generation of genetic tools to clarify the molecular pathways associated with heat stress in chickens, offering new perspectives for the use of these findings in the animal breeding field.

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Genome-wide Association Studies

Cited by 17 publications

References 20 publications

Polymorphisms of MFGE8 are associated with susceptibility and clinical manifestations through gene expression modulation in Koreans with systemic lupus erythematosus

Polymorphisms of MFGE8 are associated with susceptibility and clinical manifestations through gene expression modulation in Koreans with systemic lupus erythematosus

Identification of disease-associate variants of aggressive periodontitis using genome-wide association studies

Emerging Genetic Tools to Investigate Molecular Pathways Related to Heat Stress in Chickens: A Review

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