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Chunk #37 — Discussion

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Co-regulatory expression quantitative trait loci mapping: method and application to endometrial cancer.
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We detected a strong association of rs2296697, within an intron of LPHN2 (latrophilin 2), with a cluster of genes including C21orf58, CPNE6, SOX11, MMP8, and LRTM1. LPHN2 belongs to the latrophilin subfamily of G-protein coupled receptors, with known roles in cell adhesion and signal transduction [59]. Cell adhesion was among the most enriched categories from Gene Ontology analysis of creQTL. CPNE6 (copine VI), is a member of the ubiquitous copine family, which bind phospholipid in Ca2+-dependent manner and have roles in cellular division and growth [60]. Although very little is known regarding CPNE6, other members of the copine family have been shown to promote tumor cell migration [61] and repress NF-KB transcription [62]. SOX11 is a TF with important roles in brain development that is strongly upregulated in lymphoma [63] and malignant glioma, where it may affect tumorigenesis [64,65]. SOX11 may also be a prognostic marker for recurrence-free survival in another uterine neoplasia, epithelial ovarian cancer [66]. MMP8 (human neutrophil collagenase) is a member of the matrix metallopeptidase family. Recent work has shown that a SNP in MMP8 may be