Identification of ASAH1 as a susceptibility gene for familial keloids View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-10

AUTHORS

Regie Lyn P Santos-Cortez, Ying Hu, Fanyue Sun, Fairouz Benahmed-Miniuk, Jian Tao, Jitendra K Kanaujiya, Samuel Ademola, Solomon Fadiora, Victoria Odesina, Deborah A Nickerson, Michael J Bamshad, Peter B Olaitan, Odunayo M Oluwatosin, Suzanne M Leal, Ernst J Reichenberger

ABSTRACT

Keloids result from abnormal proliferative scar formation with scar tissue expanding beyond the margin of the original wound and are mostly found in individuals of sub-Saharan African descent. The etiology of keloids has not been resolved but previous studies suggest that keloids are a genetically heterogeneous disorder. Although possible candidate genes have been suggested by genome-wide association studies using common variants, by upregulation in keloids or their involvement in syndromes that include keloid formation, rare coding variants that contribute to susceptibility in non-syndromic keloid formation have not been previously identified. Through analysis of whole-genome data we mapped a locus to chromosome 8p23.3-p21.3 with a statistically significant maximum multipoint LOD score of 4.48. This finding was followed up using exome sequencing and led to the identification of a c.1202T>C (p.(Leu401Pro)) variant in the N-acylsphingosine amidohydrolase (ASAH1) gene that co-segregates with the keloid phenotype in a large Yoruba family. ASAH1 is an acid ceramidase known to be involved in tumor formation by controlling the ratio of ceramide and sphingosine. ASAH1 is also involved in cell proliferation and inflammation, and may affect the development of keloids via multiple mechanisms. Functional studies need to clarify the role of the ASAH1 variant in wound healing. More... »

PAGES

1155-1161

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ejhg.2017.121

    DOI

    http://dx.doi.org/10.1038/ejhg.2017.121

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1090897139

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28905881


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