Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles

Herrera-Rivero, Marisol; Hochfeld, Lara M.; Sivalingam, Sugirthan; Nöthen, Markus M.

doi:10.1186/s12895-020-00113-y

Cited by 6 publications

(4 citation statements)

References 47 publications

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“…It also remains to be seen whether PADI3 mutations can affect the hair follicle in more ways than altering IRS desquamation. For example, Herrera-Rivero et al 7 recently found evidence confirming the contributions of PADI3 to human variation in other hair traits.…”

mentioning

confidence: 89%

Central centrifugal cicatricial alopecia: A common but under‐recognized and under‐treated disease finally comes of age

Sperling

Darling

2021

J Cutan Pathol

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mentioning

confidence: 89%

Central centrifugal cicatricial alopecia: A common but under‐recognized and under‐treated disease finally comes of age

Sperling

Darling

2021

J Cutan Pathol

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“…6, Supplementary Data 3). Comparison with an in-house data set on human hair follicle expression 22 revealed that all five MPHL-associated genes (EDA2R, HEPH, CEPT1, WNT10A, EIF3F) are expressed in human hair follicles. Of these, EDA2R, HEPH and WNT10A are located at previously implicated MPHL-GWAS risk loci.…”

Section: Gene-based Association Analysesmentioning

confidence: 99%

Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

Henne,

Aldisi,

Sivalingam

et al. 2023

Nat Commun

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Male-pattern hair loss (MPHL) is common and highly heritable. While genome-wide association studies (GWAS) have generated insights into the contribution of common variants to MPHL etiology, the relevance of rare variants remains unclear. To determine the contribution of rare variants to MPHL etiology, we perform gene-based and single-variant analyses in exome-sequencing data from 72,469 male UK Biobank participants. While our population-level risk prediction suggests that rare variants make only a minor contribution to general MPHL risk, our rare variant collapsing tests identified a total of five significant gene associations. These findings provide additional evidence for previously implicated genes (EDA2R, WNT10A) and highlight novel risk genes at and beyond GWAS loci (HEPH, CEPT1, EIF3F). Furthermore, MPHL-associated genes are enriched for genes considered causal for monogenic trichoses. Together, our findings broaden the MPHL-associated allelic spectrum and provide insights into MPHL pathobiology and a shared basis with monogenic hair loss disorders.

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“…Here, we investigate the use of noninvasive biospecimens to overcome these barriers. Early studies suggest buccal swabs, hair follicles, nasal swabs, saliva, and urine cell pellets may have potential use in clinical settings and for discovery [ 28 – 38 ], though no studies to date have comprehensively delineated sources of technical and biological variance in noninvasive tissue types, nor their performance across a wide array of transcriptomic and clinical analyses. Furthermore, no comparisons to invasive sample types have been made in terms of cell type composition or regulation of gene expression and splicing.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of noninvasive biospecimens for transcriptome studies

Martorella,

Kasela,

Garcia-Flores

et al. 2023

BMC Genomics

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Transcriptome studies disentangle functional mechanisms of gene expression regulation and may elucidate the underlying biology of disease processes. However, the types of tissues currently collected typically assay a single post-mortem timepoint or are limited to investigating cell types found in blood. Noninvasive tissues may improve disease-relevant discovery by enabling more complex longitudinal study designs, by capturing different and potentially more applicable cell types, and by increasing sample sizes due to reduced collection costs and possible higher enrollment from vulnerable populations. Here, we develop methods for sampling noninvasive biospecimens, investigate their performance across commercial and in-house library preparations, characterize their biology, and assess the feasibility of using noninvasive tissues in a multitude of transcriptomic applications. We collected buccal swabs, hair follicles, saliva, and urine cell pellets from 19 individuals over three to four timepoints, for a total of 300 unique biological samples, which we then prepared with replicates across three library preparations, for a final tally of 472 transcriptomes. Of the four tissues we studied, we found hair follicles and urine cell pellets to be most promising due to the consistency of sample quality, the cell types and expression profiles we observed, and their performance in disease-relevant applications. This is the first study to thoroughly delineate biological and technical features of noninvasive samples and demonstrate their use in a wide array of transcriptomic and clinical analyses. We anticipate future use of these biospecimens will facilitate discovery and development of clinical applications.

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Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles

Cited by 6 publications

References 47 publications

Central centrifugal cicatricial alopecia: A common but under‐recognized and under‐treated disease finally comes of age

Central centrifugal cicatricial alopecia: A common but under‐recognized and under‐treated disease finally comes of age

Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss

Evaluation of noninvasive biospecimens for transcriptome studies

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