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Gene-set based genome-wide association analysis for the speed of sound in two skeletal sites of Korean women

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초록

The speed of sound (SOS) value is an indicator of bonemineral density (BMD). Previous genome-wide association(GWA) studies have identified a number of genes, whosevariations may affect BMD levels. However, their biologicalimplications have been elusive. We re-analyzed the GWAstudy dataset for the SOS values in skeletal sites of 4,659Korean women, using a gene-set analysis software, GSA-SNP. We identified 10 common representative GO terms, and 17candidate genes between these two traits (PGS < 0.05). Implication of these GO terms and genes in the bonemechanism is well supported by the literature survey. Interestingly, the significance levels of some member geneswere inversely related, in several gene-sets that were sharedbetween two skeletal sites. This implies that biologicalprocess, rather than SNP or gene, is the substantial unit ofgenetic association for SOS in bone. In conclusion, ourfindings may provide new insights into the biologicalmechanisms for BMD.

Abstract

The speed of sound (SOS) value is an indicator of bonemineral density (BMD). Previous genome-wide association(GWA) studies have identified a number of genes, whosevariations may affect BMD levels. However, their biologicalimplications have been elusive. We re-analyzed the GWAstudy dataset for the SOS values in skeletal sites of 4,659Korean women, using a gene-set analysis software, GSA-SNP. We identified 10 common representative GO terms, and 17candidate genes between these two traits (PGS < 0.05). Implication of these GO terms and genes in the bonemechanism is well supported by the literature survey. Interestingly, the significance levels of some member geneswere inversely related, in several gene-sets that were sharedbetween two skeletal sites. This implies that biologicalprocess, rather than SNP or gene, is the substantial unit ofgenetic association for SOS in bone. In conclusion, ourfindings may provide new insights into the biologicalmechanisms for BMD.

참고문헌 (36)

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