Analysis of partial AZFc deletions in Malaysian infertile male subjects

Abstract

Complete deletions in the AZF (a, b, and c) sub-regions of the Y-chromosome have been shown to contribute to unexplained male infertility. However, the role of partial AZFc deletions in male infertility remains to be verified. Three types of partial AZFc deletions have been identified. They are gr/gr, b1/b3, and b2/b3 deletions. A recent meta-analysis showed that ethnic and geographical factors might contribute to the association of partial AZFc deletions with male infertility. This study analyzed the association of partial AZFc deletions in Malaysian infertile males. Fifty two oligozoospermic infertile males and 63 fertile controls were recruited to this study. Screening for partial AZFc deletions was done using the two sequence-tagged sites approach (SY1291 and SY1191) which were analyzed using both the conventional PCR gel-electrophoresis and the high resolution melt, HRM method. Gr/gr deletions were found in 11.53% of the cases and 9.52% of the controls ( p = 0.725). A B2/b3 deletion was found in one of the cases ( p = 0.269). No B1/b3 deletions were identified in this study. The results of HRM analysis were consistent with those obtained using the conventional PCR gel-electrophoresis method. The HRM analysis was highly repeatable (95% limit of agreement was -0.0879 to 0.0871 for SY1191 melting temperature readings). In conclusion, our study showed that partial AZFc deletions were not associated with male infertility in Malaysian subjects. HRM analysis was a reliable, repeatable, fast, cost-effective, and semi-automated method which can be used for screening of partial AZFc deletions.

Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men1

“…In addition, several studies have investigated whether the b2/b3 or b1/b3 subdeletions are associated with spermatogenic failure. However, they also have produced mixed results [16][17][18][19][20][21][22]. Therefore, the present results may be reasonable.…”

“…The b1/b3 and b2/b3 subdeletions are also associated with male infertility [16][17][18][19]. However, several studies could not link these subdeletions to male infertility [15,[20][21][22].…”

Gr/gr deletions on Y-chromosome correlate with male infertility: an original study, meta-analyses and trial sequential analyses

“…Out of these, fourteen studies were excluded because of the following reasons: two studies were meta-analyses 45 46 , three had recruited participants from the general population 15 31 47 , parts of five studies had been published in other studies 23 48 49 50 51 , one study had irrelevant data 52 and three studies had irrelevant study design 21 27 53 . After including the present case-control study, meta-analyses were performed on twenty-nine studies 14 18 19 20 22 28 30 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 ( Fig. 2 and supplementary Table S3 ).…”

“…This meta-analysis included twenty-nine studies consisting of 10948 cases and 6604 controls ( supplementary Table S4 ). Five studies had less than a hundred samples in either of the study groups 56 58 66 67 69 . Eleven studies, including the present study, showed a significant association between the gr/gr deletions and male infertility 14 18 19 20 22 30 54 61 68 while others showed no association.…”

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

“…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.…”