التفاصيل البيبلوغرافية
| العنوان: |
WNT16 rs2908004 missense variant acts as eQTL of FAM3C in human primary osteoblasts. |
| المؤلفون: |
N., Martínez-Gil, J., Patiño, N., Ugartondo, D., Grinberg, S., Balcells |
| المصدر: |
Journal of Osteoporosis & Mineral Metabolism / Revista de Osteoporosis y Metabolismo Mineral (English edition); nov/dic2021, Vol. 13 Issue 4, p117-121, 5p |
| مصطلحات موضوعية: |
LOCUS (Genetics), MISSENSE mutation, BONE density, OSTEOBLASTS, HOMEOSTASIS |
| مستخلص: |
Introduction: WNT16 is an important gene in bone homeostasis, found in a very complex locus that also includes neighboring genes: ING3, FAM3C, and CPED1. In addition to the clear role of WNT16 in determining bone mineral density (BMD), evidence has also been found for the importance of these three neighboring genes in bone metabolism. Therefore, it remains to be clarified whether the variants in WNT16 associated with BMD carry out their effect on WNT16 or if they do so by modifying the expression of these neighboring genes. Material and methods:We have determined the expression levels of CPED1 and FAM3C in primary osteoblasts and we have verified whether WNT16 variants behave as loci of quantitative expression traits (expression quantitative trait loci; eQTL) of these genes. Results: The amino acid change variant rs2908004 in WNT16 acts as the eQTL of FAM3C in primary osteoblasts under the dominant model hypothesis. Discussion: It is possible that the effect of this variant on BMD is due to the modification of the expression levels of FAM3C in addition to or instead of a direct effect of the mutant WNT16 protein resulting from the amino acid change. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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