Association of DAZL polymorphisms and DAZ deletion with male infertility: a systematic review and meta-analysis

Various populations have been investigated for the occurrence of two key DAZL polymorphisms, 260A > G (rs11710967) and 386A > G (rs121918346), as well as complete DAZ cluster deletion, with conflicting results.

The purpose of the current meta-analysis was to investigate if there is an association between DAZL polymorphisms and complete deletion of the DAZ cluster gene with male infertility.

Up until September 2022, a thorough search was conducted in the Pubmed and Google scholar databases. For 260A > G polymorphism, 8 studies with 2077 cases and 1398 controls, 13 studies for 386A > G polymorphism (4343 cases and 3727 controls) and 17 studies of DAZ deletion (2820 cases and 1589 controls) were included in the pooled analysis. All of the studies were statistically analysed by Review Manager 5.4, and publication bias was evaluated with JASP 0.16.2.0 software utilising funnel plots and Egger's linear regression test.

The meta analysis result for pooled data indicated no association between 260A > G and 386A > G polymorphisms and male infertility in any of the genetic models or ethnicities. However, there was a definite correlation between complete deletion of the DAZ gene cluster and male infertility, with an OR = 13.23, 95% confidence interval (6.63-26.39), and p < 0.00001. In the stratified analysis by ethnicity, Caucasians and Asian ethnic groups showed the similar relationship.

In order to arrive at more definitive conclusions, further study should be conducted, including studies from a larger range of nations and nationalities.