Genetic variants in KITLG and BAK1 predisposes to testicular germ cell cancer

Testicular germ cell tumor (TGCT) is the most common malig nancy in men aged 15–45. There are two major subgroups of TGCT: seminomas (comprising 50% of cases), which resemble the primary germ cells from which they are derived, and non-seminomas (comprising 40% of cases), which display varying degrees of differ entiation, from embryonal carcinoma through to teratoma. About 10% of tumors contain mixed histology.Single nucleotide polymorphisms (SNPs) lead to genetic differences in TGCT susceptibility among men from different ethnicities.Genome-wide association studies ( GWAS ) of TGCT have identified eight associated SNPs at six loci, which together account for > 11% of the genetic risk of TGCT. These loci reside at 12q21 (encompassing KITLG), 5q31 (SPRY4), 6p21 (BAK1), 5p15 (TERT and CLPTM1L), 12p13 (ATF7IP) and 9p24 (DMRT1).In the present study, we validate the associations between KITLG and BAK1 in persian population. To find susceptibility loci for TGCT, we selected and identify the genetic variants in candidate genes (KITLG and BAK1) .KITLG (also known as stem cell factor or steel), which encodes the ligand for the membrane-bound receptor tyrosine kinase KIT. rs995030 is within the 3′ untranslated region of KITLG. rs210138 on chromosome 6 falls within an intron of BAK1 (BCL2-antagonist/killer 1), which encodes a protein that promotes apoptosis by binding to and antagonizingthe apoptosis repressor activity of BCL2 and other antiapoptotic proteins.We will develop a system for detection and study the allele and genotype frequencies of the KITLG (rs995030) and BAK1 (rs210138) genes in patients with TGCT and compare with menwithout TGCT.

کلیدواژه ها:

TGCT ، KITLG ، BAK1 ، polymorphism ، SNP ، VARIANT