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

Autor:	Dantsev IS; Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia., Ivkin EV; Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia., Tryakin AA; N. N. Blokhin Russian Cancer Research Center, Moscow 115478, Russia., Godlevski DN; Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia., Latyshev OY; Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia., Rudenko VV; Research Centre of Medical Genetics, Moscow 115478, Russia., Mikhaylenko DS; I. M. Sechenov First Moscow State Medical University, Moscow 119991, Russia., Chernykh VB; Research Centre of Medical Genetics, Moscow 115478, Russia.; N. I. Pirogov Russian National Research Medical University, Moscow 117997, Russia., Volodko EA; Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia., Okulov AB; Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia., Loran OB; Russian Medical Academy of Postgraduate Education, Moscow 123995, Russia., Nemtsova MV; Research Centre of Medical Genetics, Moscow 115478, Russia.; I. M. Sechenov First Moscow State Medical University, Moscow 119991, Russia.
Jazyk:	angličtina
Zdroj:	Asian journal of andrology [Asian J Androl] 2018 Nov-Dec; Vol. 20 (6), pp. 593-599.
DOI:	10.4103/aja.aja_54_18
Abstrakt:	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 difference in BMP7_rs388286 between the TGCT group and the control (T allele, P = 0.00004; TT genotype, P = 0.00006) and between the TM group and the control (T allele, P = 0.04). HOXD also demonstrated a strong association with TGCTs (rs17198432 A allele, P = 0.0001; AA genotype, P = 0.001). Furthermore, significant differences were found between the TGCT group and the control in the BAK1_rs210138 G allele (P = 0.03) and the GG genotype (P = 0.01). KITLG and BMP7 genes, associated with the development of TGCTs, may also be related to TM. In summary, the KITLG GG_rs995030, GG_rs1508595, BMP7 TT_rs388286, HOXD AA_rs17198432, and BAK1 GG_rs210138 genotypes were associated with a high risk of TGCT development. Competing Interests: None
Databáze:	MEDLINE
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