Expressive

rs10510452 - LINC00690 - DAZL

Magnitude 2.8 · 4 studies on file

Reported associations

  • Two new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor. - Human molecular genetics (2016) · Kristiansen W, Karlsson R, Rounge TB, Whitington T, Andreassen BK, Magnusson PK, Fosså SD, Adami HO, Turnbull C, Haugen TB, Grotmol T, Wiklund F · PubMed 25877299

    Genome-wide association (GWA) studies have reported 19 distinct susceptibility loci for testicular germ cell tumor (TGCT). A GWA study for TGCT was performed by genotyping 610 240 single-nucleotide polymorphisms (SNPs) in 1326 cases and 6687 controls from Sweden and Norway. No novel genome-wide significant associations were observed in this discovery stage. We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads and 289 cases and 290 controls. Predefined biological pathways and processes, in addition to a custom-built sex-determination gene set, were subject to enrichment analyses using Meta-Analysis Gene Set Enrichment of Variant Associations (M) and Improved Gene Set Enrichment Analysis for Genome-wide Association Study (I).

  • Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor - Unknown journal (n.d.) · Unknown authors · PubMed 28604732

    ABSTRACT: The international TEsticular CAncer Consortium (TECAC) combined five published genome-wide association studies of testicular germ cell tumors (TGCT; 3,558 cases and 13,970 controls) to identify novel susceptibility loci. We conducted a fixed effects meta-analysis, including the first analysis of the X chromosome. Eight new loci mapping to 2q14.2, 3q26.2, 4q35.2, 7q36.3, 10q26.13, 15q21.3, 15q22.31, and Xq28 achieved genome-wide significance (P < 5×10-8). Most loci harbor biologically plausible candidate genes. We refined previously reported associations at 9p24.3 and 19p12 by identifying one and three additional independent SNPs, respectively. In aggregate, the 39 independent markers identified to date explain 37% of father-to-son risk, 8% of which can be attributed to the 12 ne

  • Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor - Unknown journal (n.d.) · Unknown authors · PubMed 28604728

    ABSTRACT: Genome-wide association studies (GWAS) have transformed our understanding of testicular germ cell tumour (TGCT) susceptibility but much of the heritability remains unexplained. Here we report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 7,319 TGCT cases and 23,082 controls. We identify 19 new TGCT risk loci, approximately doubling the number of known TGCT risk loci to 44. By performing in-situ Hi-C in TGCT cells, we provide evidence for a network of physical interactions between all 44 TGCT risk SNPs and candidate causal genes. Our findings reveal widespread disruption of developmental transcriptional regulators as a basis of TGCT susceptibility, consistent with failed primordial germ cell differentiation as an initiating step in oncogenesis.

  • Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14 - Unknown journal (n.d.) · Unknown authors · PubMed 23666240

    ABSTRACT: Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. To date, six loci associated with TGCT have been reported. From GWAS analysis of 307,291 SNPs in 986 cases and 4,946 controls, we selected for follow-up 694 SNPs, which we genotyped in a further 1,064 TGCT cases and 10,082 controls from the UK. We identified SNPs at nine new loci showing association with TGCT (P<5×10−8), at 1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3, which together account for an additional 4-6% of the familial risk of TGCT. The loci include genes plausibly related to TGCT development. PRDM14, at 8q13.3, is essential for early germ cell specification whilst DAZL, at 3p24.3, is required for regulation of germ cell deve

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