Frequencies of the KITLG, BAK1 and SPRY4 alleles and genotypes associating with the development of testicular germ cell tumors, are increased in patients with testicular microlithiasis



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Abstract

Testicular microlithiasis is a random finding on ultrasound testicular examination. Testicular microlithiasis is of particular interest as an informative marker in men with an increased risk of testicular germ cell tumors. Genes KITLG, SPRY4 and BAK1 influence the development of the testes and spermatogenesis, their change results in a significant increase in the risk of testicular germ cell tumors. To determine the genetic factors that determine an increased risk of testicular germ cell tumors in patients with testicular microlithiasis, we investigated the frequency of alleles and genotypes of genes KITLG (rs995030, rs1508595), SPRY4 (rs4624820, rs6897876) and BAK1 (rs210138) in groups of fertile male, patients with testicular germ cell tumors and patients with testicular microlithiasis. For KITLG rs995030 we found significant differences in the frequency of the genotype GG in patients with testicular microlithiasis (p = 0.013) and in patients with testicular germ cell tumors (p = 0,0031) compared with the control. For KITLG rs1 508595 revealed significant differences in the frequency of G allele and GG genotype in patients with testicular microlithiasis (p = 0,002 for allele, p = 0,01 for genotype) and patients with testicular germ cell tumors (p = 0.0003 for allele; p = 0,014 for genotype). For BAK1 rs210138 we found significant differences in the frequency of G allele in patients with testicular microlithiasis, compared with the control group (p = 0,03). With a combination of high-risk genotypes study KITLG (rs995030, rs1508595) an BAK1 (rs210138) showed that the combination of these genotypes were significantly more common in patients with testicular germ cell tumors (p = 0,0001) and patients with testicular microlithiasis (p = 0,0053), on compared with the control. We have shown an increase in frequency of genotypes combination for testicular germ cell tumors at 4,6 times (OR: 4,669 [2,172-10,034]), and testicular microlithiasis - 3,3 times (OR: 3,355 [1,471-7,654]).

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About the authors

I. S Dantzev

Russian medical academy of postgraduate education

Moscow, Russia

E. V Ivkin

N.N. Blokhin Russian Onctological Scientific Center

Moscow, Russia

A. A Tryakin

N.N. Blokhin Russian Onctological Scientific Center

Moscow, Russia

A. A Bulanov

N.N. Blokhin Russian Onctological Scientific Center

Moscow, Russia

D. N Godlevski

Russian medical academy of postgraduate education

Moscow, Russia

O. Y Latyshev

Russian medical academy of postgraduate education

Moscow, Russia

V. V Rudenko

N.N. Blokhin Russian Onctological Scientific Center

Moscow, Russia

S. A Tyulyandin

N.N. Blokhin Russian Onctological Scientific Center

Moscow, Russia

E. A Volodko

Russian medical academy of postgraduate education

Moscow, Russia

A. B Okulov

Russian medical academy of postgraduate education

Moscow, Russia

O. B Loran

Russian medical academy of postgraduate education

Moscow, Russia

M. V Nemtsova

I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia; Russian medical academy of postgraduate education

Moscow, Russia

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