Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis

Asian Journal of Andrology
I S DantsevM V Nemtsova

Abstract

Testicular microlithiasis (TM) is one of the symptoms of testicular dysgenesis syndrome (TDS). TM is particularly interesting as an informative marker of testicular germ cell tumors (TGCTs). KIT ligand gene (KITLG), BCL2 antagonist/killer 1 (BAK1), and sprouty RTK signaling antagonist 4 (SPRY4) genes are associated with a high risk of TGCTs, whereas bone morphogenetic protein 7 gene (BMP7), transforming growth factor beta receptor 3 gene (TGFBR3), and homeobox D cluster genes (HOXD) are related to TDS. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated allele and genotype frequencies for KITLG (rs995030, rs1508595), SPRY4 (rs4624820, rs6897876), BAK1 (rs210138), BMP7 (rs388286), TGFBR3 (rs12082710), and HOXD (rs17198432) in 142 TGCT patients, 137 TM patients, and 153 fertile men (control group). We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. We also revealed strong associations between KITLG_rs1508595 and TM (G allele, P = 0.003; GG genotype, P = 0.01) and between KITLG_rs1508595 and TGCTs (G allele, P = 0.0001; GG genotype, P = 0.0007). Moreover, there was a significant diffe...Continue Reading

Citations

Jul 11, 2020·International Braz J Urol : Official Journal of the Brazilian Society of Urology·Ismail SelviHalil Basar
May 28, 2019·Frontiers in Endocrinology·Sandro La VigneraRosita A Condorelli
Apr 14, 2021·Insights Into Imaging·Malene Roland Vils PedersenSøren Rafael Rafaelsen

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Methods Mentioned

BETA
PCR
genotyping
electrophoresis

Software Mentioned

GraphPad Prism
GraphPad

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