A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population

Wu, Bin; Lu, Ningxia; Xia, Yankai; Gu, Aihua; Lu, Chuncheng; Wang, W.; Lee, Song; Wang, S.L.; Shen, Hongbing; Wang, X.R.

doi:10.1093/humrep/del499

Cited by 100 publications

(88 citation statements)

References 27 publications

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“…Similar observations were made with respect to b2/b3 subdeletions in the Han-Chinese population, in which the frequency was significantly high. 36 However, other studies have reported very low frequencies of these subdeletions and found no association with infertility and/or spermatogenesis. 14,16,19,27,34,37 Either genetic background of the population studied or the type of infertility might explain the reasons in the frequencies of the different subdeletions.…”

Section: Discussionmentioning

confidence: 93%

“…This is in line with studies from European and Han-Chinese populations. 10,17,36 The overall difference in the frequencies of subdeletions between Indian and Chinese populations could be because of the genetic background of the study participants. The prevalence of subdeletions such as b1/b3 and b2/b3 only in the infertile group has reinforced our view that these subdeletions might have some impact on spermatogenesis.…”

Section: Discussionmentioning

confidence: 99%

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Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

et al. 2010

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Microdeletions in azoospermia factor (AZF) region on distal Yq are associated with male infertility and spermatogenic failure due to intra-chromosomal homologous recombination between large nearly identical repeat amplicons and are found in B10% of azoospermic and severe oligozoospermic cases. Although AZFc is deleted in azoospermia or oligozoospermia, no definitive conclusion has been drawn for the role of partial AZFc deletions to spermatogenic failure. Therefore, this study is planned to investigate the role of gr/gr subdeletions in individuals with spermatogenic failure and to find its relationship with Y chromosome haplogroups (HGs) in infertile men from Indian population. It is a case-control study involving 236 azoospermic, 182 oligospermic and 240 healthy normozoospermic men. We found 18 gr/gr, 11 b1/b3 and 2 b2/b3 subdeletions in azoospermic patients and 12 gr/gr, 5 b1/b3 and 4 b2/b3 subdeletions in oligospermic patients. However, we also found seven gr/gr deletions in normozoospermic men. Seven patients each with spermatogenic arrest and oligospermia who carry gr/gr subdeletions have deleted DAZ3/DAZ4 genes. A total of 11 patients with sertoli cell-only syndrome (SCOS) and 5 oligospermic patients with gr/gr subdeletions also have DAZ1/DAZ2 genes deleted indicating that deletions of DAZ genes contributed differently to damage to spermatogenic process. L1 HG is found in patients showing b1/b3 subdeletions, whereas HG H1a2 and H1b were found in normozoospermic individuals with gr/gr subdeletions. Our results provide evidence of association between the occurrence of subdeletions and male infertility as well as the severity of the spermatogenic failure.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

et al. 2010

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“…Recently, new types of AZFc deletions, called "partial deletions," have been reported , which remove approximately half of the AZFc gene content-including two DAZ, one CDY1 copies and one BPY2 copy-and arise by the same molecular mechanism of the complete AZF microdeletions. Among them, gr/gr partial deletion is considered a genetic risk factor for spermatogenic impairment by a number of research groups, including ours (see Table 1), while b2/b3 and b1/b3 deletions seem not to have signiWcant eVects on male fertility (Giachini et al 2005;Hucklenbroich et al 2005;Lynch et al 2005;Repping et al 2004) with the exception of one study in the Han-Chinese population (Wu et al 2007).…”

Section: Introductionmentioning

confidence: 79%

Partial AZFc deletions and duplications: clinical correlates in the Italian population

et al. 2008

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The role of partial AZFc deletions of the Y chromosome in spermatogenic impairment is currently debated. Recently, it was also reported that duplications of the same region are associated with oligozoospermia in Han-Chinese men. The aims of this study were (1) to evaluate the clinical signiWcance of partial AZFc deletions in a large study population and (2) to deWne if partial AZFc duplications are a risk factor for spermatogenic failure also in a Caucasian population such as the Italian. We screened 556 infertile patients and 487 normozoospermic controls for partial AZFc deletions with a combined method based on STS+/¡ followed by CDY1-DAZ gene dosage and copy analysis. For the second aim, we performed CDY1-DAZ gene dosage in 229 infertile patients and 263 normozoospermic controls. The frequency of gr/gr deletions in patients was signiWcantly diVerent from the controls (3.2 vs. 0.4%, respectively; P < 0.001), with an OR = 7.9 (95% CI 1.8-33.8). b2/b3 deletions were rare in both groups (0.5% in patients, 0.2% in controls). Concerning gr/gr duplications, we observed no signiWcant diVerences in their frequency between cases (2.6%) and controls (3.8%). This is the largest study population in the literature in which all potential methodological and selection biases were carefully avoided to detect the clinical signiWcance of partial AZFc deletions and duplications. Our study provides strong evidence that gr/gr deletion is a risk factor for impaired spermatogenesis, whereas we did not detect a signiWcant eVect of b2/b3 deletions and partial AZFc duplications on spermatogenesis in this Caucasian ethnic group.

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“…With the exception of one study among Han-Chinese population (Wu et al, 2007), all other studies reported no association between the b2/b3 deletion and impaired spermatogenesis. The results of the gr/gr deletion are more inconsistent; it is considered a new genetic risk factor by a number of research groups de Llanos et al, 2005;Ferlin et al, 2005;Gianchini et al, 2005, Gianchini et al, 2008, but not by the others (Machev et al, 2004;Hucklenbroich et al, 2005;Ravel et al, 2006;Carvalho et al, 2006;Lardone et al, 2007a;Lin et al, 2007).…”

Section: Partial Azfc Deletionsmentioning

confidence: 85%

Detection of the Most Common Genetic Causes of Male Infertility by Quantitative Fluorescent (QF)-PCR Analysis

Plaseska‐Karanfilska¹,

Noveski²,

Plaseski³

2011

Human Genetic Diseases

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A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population

Cited by 100 publications

References 27 publications

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

Partial AZFc deletions and duplications: clinical correlates in the Italian population

Detection of the Most Common Genetic Causes of Male Infertility by Quantitative Fluorescent (QF)-PCR Analysis

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