Geographical, Environmental and Pathophysiological Influences on the Human Blood Transcriptome

Tabassum, Rubina; Nath, Artika P.; Preininger, Marcela K.; Gibson, Greg

doi:10.1007/s40142-013-0028-0

Cited by 8 publications

(4 citation statements)

References 63 publications

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“…). Yet, many of these sex differences co‐vary with geography and ethnicity, which is consistent with the results found in studies attempting to relate ethnicity to gene expression using HapMap data (Tabassum et al, ). Future studies of sex‐biased gene expression will benefit by sampling multiple populations living under varying environmental conditions and lifestyles.…”

Section: Determining Sex In Humanssupporting

confidence: 84%

Genetic Architecture of Sexual Dimorphism in Humans

Rigby

Kulathinal

2015

Journal Cellular Physiology

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Males and females differ across a broad spectrum of morphological, physiological, and behavioral characters. In fact, sexually dimorphic traits typically contribute the largest component of phenotypic variance in most taxa that use sex to reproduce. However, we know very little about the mechanisms that maintain these dimorphic states and how these sexually dimorphic traits evolve. Here, we review our current knowledge of the underlying genetic basis of sexual dimorphism in humans. First, we briefly review the etiology of sex differences starting from sex determination's initial switch early in embryogenesis. We then survey recent sex-biased transcriptomic expression literature in order to provide additional insight into the landscape of sex-biased gene expression in both gonadal and non-gonadal tissues: from overall prevalence to tissue specificity to conservation across species. Finally, we discuss implications of sex-biased genetic architecture to human health and disease in light of the National Institute of Health's recently proposed initiative to promote study samples from both sexes.

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Section: Determining Sex In Humanssupporting

confidence: 84%

Genetic Architecture of Sexual Dimorphism in Humans

Rigby

Kulathinal

2015

Journal Cellular Physiology

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“…Discrepancies between studies might be because of different patterns of linkage disequilibrium between this polymorphism and other functional mutations in the IL‐1β gene that can differ among different ethnic groups. Environmental factors could also affect the gene expression pattern which strongly depends on the ethnicity and regional location [Tabassum et al, ]. Therefore, we recommend further investigations to envisage the presence of functional mutations in IL‐1β gene.…”

Section: Discussionmentioning

confidence: 99%

Estimation of Interleukin-1β Promoter (−31 C/T and −511 T/C) Polymorphisms and Its Level in Coronary Artery Disease Patients

et al. 2017

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Interleukin-1β (IL-1β) is an inflammation-causing cytokine that exerts several unique biological effects and could lead to future adverse events of CAD. The piece of work presented herein is aimed at investigating possible association of IL-1β levels to its polymorphic site viz. -511 and -31 at promoter region in Saudi CAD patients. The study included 155 confirmed CAD patients and 80 healthy control individuals both men and women. Concentration of IL-1β in the patients' serum was measured by ELISA method. For single nucleotide polymorphism (SNP) analysis, sanger method of DNA sequencing was followed. We observed variable numbers of SNPs at -31 C/T and -511 T/C promoter regions in Saudi patients suffering from CAD in comparison to the control set of individuals. However, the changes in the number of SNP-hotspots were determined to be non-significant with reference to the control set. The haplotype analysis at -31 and -511 also did not show any significant changes between control and CAD patients. Moreover, serum IL-1β levels were observed to be expressively higher in patients suffering from CAD (P < 0.001) and its associated complications viz. STEMI (P < 0.001), NSTEMI (P < 0.001), and UA (P < 0.001). Our study provides the status of SNPs at IL-1β promoter in Saudi population. As per our information, ours is the first article that shows the genetic diversity in IL-1β promoters and its level in the Saudi CAD patients. J. Cell. Biochem. 118: 2977-2982, 2017. © 2017 Wiley Periodicals, Inc.

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“…However, this approach is vulnerable to false positive errors due to the low signal-to-noise ratio inherent in microarray technology [47]. Further, such threshold-based cutoffs do not take into account the highly correlated nature of gene expression [47,61]. Other studies have used a contrast score based on an a priori selected group of genes implicated in prior studies [23], but this score includes only a small subset of the genes investigated in the current analysis which likely accounts for the difference in findings.…”

Section: Discussionmentioning

confidence: 99%

Expression of socially sensitive genes: The multi-ethnic study of atherosclerosis

et al. 2019

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Background Gene expression may be an important biological mediator in associations between social factors and health. However, previous studies were limited by small sample sizes and use of differing cell types with heterogeneous expression patterns. We use a large population-based cohort with gene expression measured solely in monocytes to investigate associations between seven social factors and expression of genes previously found to be sensitive to social factors. Methods We employ three methodological approaches: 1) omnibus test for the entire gene set (Global ANCOVA), 2) assessment of each association individually (linear regression), and 3) machine learning method that performs variable selection with correlated predictors (elastic net). Results In global analyses, significant associations with the a priori defined socially sensitive gene set were detected for major or lifetime discrimination and chronic burden (p = 0.019 and p = 0.047, respectively). Marginally significant associations were detected for loneliness and adult socioeconomic status (p = 0.066, p = 0.093, respectively). No associations were significant in linear regression analyses after accounting for multiple testing. However, a small percentage of gene expressions (up to 11%) were associated with at least one social factor using elastic net. Conclusion The Global ANCOVA and elastic net findings suggest that a small percentage of genes may be “socially sensitive,” (i.e. demonstrate differential expression by social factor), yet single gene approaches such as linear regression may be ill powered to capture this relationship. Future research should further investigate the biological mechanisms through which social factors act to influence gene expression and how systemic changes in gene expression affect overall health.

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Geographical, Environmental and Pathophysiological Influences on the Human Blood Transcriptome

Cited by 8 publications

References 63 publications

Genetic Architecture of Sexual Dimorphism in Humans

Genetic Architecture of Sexual Dimorphism in Humans

Estimation of Interleukin-1β Promoter (−31 C/T and −511 T/C) Polymorphisms and Its Level in Coronary Artery Disease Patients

Expression of socially sensitive genes: The multi-ethnic study of atherosclerosis

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