What about gr/gr deletions and male infertility? Systematic review and meta-analysis

Abstract

Our meta-analysis comprising >12 000 men demonstrates that gr/gr deletions occur more frequently in infertile than control men. The association between gr/gr deletions and infertility varies according to ethnicity and geographic region, with an association reaching significance among Caucasian men, in Europe and the Western Pacific region.

Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions

“…In accordance with previous studies [13,[20][21][22], the gr/gr deletions were found to be most prevalent whereas the b1/b3 and b2/b3 deletions were of rare occurrence in the Indian population. Amongst these, the frequency of gr/gr but not b1/b3 and b2/b3 deletions was significantly higher in men with azoospermia or oligozoospermia as compared to fertile controls, none of the individuals had b2/b4 deletions.…”

“…The OR for gr/gr deletions is 2.8 and 5.7 for b1/b3 deletion in infertile men. This OR is higher as compared to those reported in meta-analyses and large p<0.05 is considered as statistically significant Pregnancy rate (%) 59 (25.7) 3 (30) n are the number of men assessed in each group population-based studies [20,21,25,26] suggesting that both gr/gr and b1/b3 deletions are strong predisposing factors for male infertility in Indian population. Although gr/gr and b1/b3 deletions seem to be a risk factor for male infertility, there are normozoospermic fertile men with AZFc subdeletions, moreover b2/b3 deletions which remove almost identical amount of genetic material (and the same genes) do not predispose an individual to male infertility.…”

“…While in some studies the frequency of AZFc subdeletions (mainly the gr/gr) is higher in infertile men as compared to fertile controls [5,11,[20][21][22]; others have failed to confirm this association [23,24]. Based on four meta-analysis studies and a large population study involving >20,000 individuals it appears that the gr/gr deletion is a risk factor for male infertility [13,20,21,25,26]; the odds ratio is estimated to be 1.4-2.4 [5,20,21,25,26].…”

“…It has been observed that the Europeans and the Han Chinese have a strong association of gr/gr deletions with male infertility [11,22,27]; the American and African men with gr/gr deletions do not seem to be susceptible to azoospermia or oligozoospermia [20,21,[28][29][30]. In the Asian population, the gr/gr deletions are not associated with male infertility in the Malaysian and Japanese men; a significant association has been observed in the Korean and Chinese men [20,21,27,[31][32][33]. In the context of Indian population, the association of AZFc subdeletions and male infertility is unclear.…”

A multi-faceted approach to understanding male infertility: gene mutations, molecular defects and assisted reproductive techniques (ART)

“…The gr/gr deletion event occurs with a relatively high frequency (3.5 %) in different Y haplotypes among men with spermatogenic failure [66]. It varies from 2.1 to 12.5 % among all cases, and from 0 to 10.2 % among normozoospermic controls [69]. In a conflicting report by Eloualid et al, [65] they have reported that gr/gr deletions occur at similar frequencies of 5.83 and 6.25 % in patient and control populations respectively, suggesting that these deletions are not associated with spermatogenic failure.…”