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Chunk #67 — WHAT IS KNOWN FROM GWAS STUDIES

Source
Genetic variants in mRNA untranslated regions.
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Another variant with a strong effect (odd ratio = 2.26, p-value = 2×10−50) is rs995030, associated with testicular germ cell tumour in KITLG, encoding the ligand for the receptor tyrosine kinase KIT.99 The KIT–KITLG system regulates the survival, proliferation and migration of germ cells, and mutations in this gene confer an increased tumour risk in a mouse model of the disease. Although the gene may explain the association, no correlation has been found so far between rs995030 and variation in KITLG expression.100