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Y chromosome b2/b3 deletions and male infertility: A comprehensive meta-analysis, trial sequential analysis and systematic review

Journal

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
Volume 768, Issue -, Pages 78-90

Publisher

ELSEVIER
DOI: 10.1016/j.mrrev.2016.04.007

Keywords

b2/b3 deletion; Y partial deletion; Male infertility; Spermatogenic failure

Funding

  1. Council of Scientific and Industrial Research, Govt. Of India [BSC0101]

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The correlation of Y-chromosome b2/b3 partial deletions with spermatogenic failure remains dubious. We undertook a systematic review of the literature followed by meta-analyses and trial sequential analyses in order to compare the frequency of b2/b3 deletions between oligo/azoospermic infertile and normozoospermicmen. Out of twenty-four studies reviewed for meta-analysis, twenty reported no correlation between this deletion and male infertility and two studies each reported a direct and inverse correlation. In the collective analysis, 241 out of 8892 (2.71%) oligo/azoospermic individuals and 118 out of 5842 (2.02%) normozoospermic controls had a b2/b3 deletion, suggesting a relatively higher frequency of deletions in the cases. Eventually, meta-analysis showed a significant correlation between b2/b3 deletions and the risk of spermatogenic loss/infertility (Fixed model: OR = 1.313, 95% CI = 1.04-1.65, p = 0.02; Random model: OR = 1.315, 95% CI = 1.02-1.70, p = 0.037). Further meta-analysis on studies grouped by ethnicity and geographic regions showed that the b2/b3 deletions are significantly associated with spermatogenic loss/infertility in Mongolians, Nigro-Caucasians, East Asians and Africans, but not in Caucasians, Europeans, South Asians and Dravidians. In summary, the Y-chromosome b2/b3 deletions increase infertility risk; however, it may be significant only in the Mongolian populations and the East Asian region. (C) 2016 Elsevier B.V. All rights reserved.

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