Abstract

We used microarray as well as quantitative real-time PCR (Q-RT-PCR) validation to define the genes and/or pathways that are involved in gestational diabetes mellitus (GDM) in patients of Chinese ethnicity. We used the Illumina microarray platform to obtain comprehensive gene expression profiles of blood and placenta taken from GDM-positive and GDM-negative women. We found 5197 genes in blood and 243 genes in placenta, which had significantly altered expression profiles attributable to GDM. Genes previously known to have altered expressions as a result of GDM (such as TNF, IL1B, LEP, IFNG and HLA-G) were also validated. In addition, we identified a number of previously unreported genes: VAV3, PTPN6, CD48 and IL15, which had expression patterns that were significantly different from our GDM and control samples, as determined by both microarray and Q-RT-PCR assays. Two significant pathways were identified as GDM-associated pathways through integrated functional annotation. These pathways were: 'Natural killer cell mediated cytotoxicity' in blood and 'Cytokine-cytokine receptor interaction' in placenta. Furthermore, despite differences between blood and placenta in terms of the quantity of gene expression, we nonetheless observed similar functional distributions in both tissues in terms of immune-related genes. These newly identified key genes and pathways may provide valuable information about the pathogenesis of GDM and can be used to improve early diagnosis, prevention, medication design and clinical treatment.

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