Association Study Between MTRR, TAF4B, PIWIL1 Variants and Non-Obstructive Azoospermia in Northeast Chinese Han Population.

Background: Non-obstructive azoospermia (NOA) is an important factor leading to male infertility and the genetic mechanism is not yet clear. It requires investigation to reveal its occurrence based on sequencing technology from the genetic level. Our previous genome wide association study (GWAS) using targeted high-throughput sequencing technology has identified suspected genetic variants including rs162036, rs161870, rs1677016R and rs1106042R associated with non-obstructive azoospermia (data not published).
Methods: To further investigate the linkage between the four SNPs and the occurrence of NOA, 121 NOA patients and 256 controls were included. SNPs were detected by ligase detection reaction- polymerase chain reaction (LDRPCR). Association study between SNPs and NOA was analyzed.
Results: As a result, we found no significant difference in all four alleles and genotypes frequencies in the SNPs between patients and controls (rs161870 p = 0.291; rs1677016R p = 0.264; rs161870 p = 0.291; rs1106042R p = 0.329).
Conclusions: The four SNPs are not shown to be significantly related with NOA. Therefore, the underlying potential genetic markers to Northeast Chinese Han population remain unclear and need to be further clarified.