Identification of a Y chromosome haplogroup associated with reduced sperm counts

Krausz, Csilla; Quintana-Murci, Lluı́s; Meyts, Ewa Rajpert‐De; Jørgensen, Niels; Jobling, Mark A.; Rosser, Zoë H.; Skakkebæk, Niels E.; McElreavey, Ken

doi:10.1093/hmg/10.18.1873

Cited by 86 publications

(69 citation statements)

References 28 publications

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“…Overall, the difference between the frequencies of the hg K* in the idiopathic infertile males with azoo-/oligozoospermia and the normal control population has been detected in this study, while other haplogroups showed no significant differences. The results were consistent with previously studies in both Danish and Italian populations (Previdere et al 1999;Krausz et al 2001). Although our data showed only Y haplogroup-K* to be associated with a higher predisposition to spermatogenic failure, much more importance should be attached to the role of a Y genetic background in spermatogenesis.…”

Section: Discussionsupporting

confidence: 93%

“…Related reports have been presented on Italian and Danish populations (Previdere et al 1999;Krausz et al 2001). By performing haplogroup, Krausz et al (2001) identified an European Y haplogroup associated with reduced sperm count and raised the possibility that selection may be indeed active on the Y chromosome in Danish males.…”

Section: Introductionmentioning

confidence: 86%

“…By performing haplogroup, Krausz et al (2001) identified an European Y haplogroup associated with reduced sperm count and raised the possibility that selection may be indeed active on the Y chromosome in Danish males. Previdere et al (1999) found a significant difference of Y haplotype distribution between infertile males and healthy controls in Italians, which could also be explained by the geographical origins of the subjects.…”

Section: Introductionmentioning

confidence: 99%

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The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

Zhang

Xia

et al. 2007

J Hum Genet

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A significant proportion of male infertility is accompanied by an abnormal semen analysis, azoospermia or severe oligozoospermia, which is generally assumed to be the result of spermatogenic failure. The genetic contribution in the process of spermatogenesis, particularly the role of the Y chromosome in determination of semen quality, is still obscure. In order to explore the relationship between Y chromosome haplogroup and spermatogenic failure, we collected 285 idiopathic infertile males with azoo-/oligozoospermia and 515 fertile men, adopted 12 binary markers and recruited the subjects (cases and controls) in the same region to test whether there is a possible susceptibility of certain Y haplogroups to spermatogenic failure in the Han Chinese population. The results indicated that the prevalences of hg K* in the control and the case population were 0.78% (4/515) and 2.80% (8/285), respectively. The difference between the frequencies of the hg K* in the infertile males and the normal control population was significant [odds ratio (OR) = 3.69; 95% confidence interval (CI) = 1.10-12.36] (P = 0.028). However, in the other haplogroups no significant differences were found. In conclusion, Y haplogroup-K* might bear a risk factor of male infertility, and the individuals in the haplogroup need to be further examined.

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Section: Discussionsupporting

confidence: 93%

Section: Introductionmentioning

confidence: 86%

Section: Introductionmentioning

confidence: 99%

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The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

Zhang

Xia

et al. 2007

J Hum Genet

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“…35 Many recent studies proposed that Y chromosome may have other determining genes for the male phenotype. [36][37][38] A number of diverse phenotypes have been attributed to the Y chromosome, including stature, 39 aggression, 40 handedness, 41 tooth size, 42 cerebral asymmetry, 43 alcohol dependence, 44 high blood pressure, 45 spermatogenic ability, 27,46 and adult height. 47 Researchers have been trying to investigate if there is Y involvement in tumorigenesis of male-specific cancers depending on the fact that the Y chromosome together with prostate and testicular cancers has male-specificity in common.…”

Section: Discussionmentioning

confidence: 99%

Prostate cancer incidence varies among males from different Y-chromosome lineages

Ewis

Lee

Naroda

et al. 2006

Prostate Cancer Prostatic Dis

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The incidence rate of prostate cancer in African-American males is two times higher than Caucasian men and ten times higher than Japanese men. The geographical specificity of Y haplogroups implies that males from different ethnic groups undoubtedly have various Y lineages with different Y-chromosomal characteristics that may affect their susceptibility or resistance to such a malespecific cancer. To confirm this hypothesis we studied the Y-chromosomal haplogroups of 92 Japanese prostate cancer patients comparing them with randomly selected 109 unrelated healthy Japanese male controls who were confirmed to be residents of the same geographical area. Males could be classified using three binary Y-chromosome markers (sex-determining region Y (SRY), YAP, 47z) into four haplogroups DE, O2b*, O2b1, and untagged group. Our results confirmed that prostate cancer incidence varies among males from different Y-chromosome lineages. Males from DE and the untagged haplogroups are at a significantly higher risk to develop prostate cancer than O2b* and O2b1 haplogroups (P ¼ 0.01), odds ratio 2.17 and 95% confidence interval (1.16-4.07). Males from haplogroup DE are over-represented in the patient group showing a percentage of 41.3%. The underlying possible causes of susceptibility variations of different Y lineages for such a male-specific cancer tumorigenesis are discussed. These findings explain the lower incidence of prostate cancer in Japanese and other South East Asian males than other populations. To our knowledge, this is the first reliable study examining the association between prostate cancer and Y-chromosomal haplogroups, comparing prostate cancer patients with carefully selected matched controls.

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“…The Y chromosome plays an important biological role in imparting male characteristics, including sex determination (Sinclair et al, 1990), spermatogenesis (Reijo et al, 1995;Nakahori et al, 1996), and male-specific diseases such as prostate cancer (Stone et al, 1978;Ohnuki et al, 1980;Atkin & Baker, 1985). In addition, there have been reports indicating that there exist associations between Y chromosome haplogroups and male infertility (Kuroki et al, 1999;Krausz et al, 2001;Lu et al, 2007;Yang et al, 2008;Puzuka et al, 2011;Ran et al, 2013;Sato et al, 2013), semen parameters (Sato et al, 2014), and prostate cancer (Ewis et al, 2006;Lindstr€ om et al, 2008;Wang et al, 2012) in some populations, including the Japanese. The Y chromosome haplogroup is also associated with several phenotypes other than male characteristics, including cardiovascular risk (Hiura et al, 2008;Bloomer et al, 2013;Kostrzewa et al, 2013), coronary artery disease (Charchar et al, 2012), lipids (Charchar et al, 2004;Russo et al, 2008), and blood pressure (Charchar et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

Y chromosome haplogroup D2a1 is significantly associated with high levels of luteinizing hormone in Japanese men

et al. 2015

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SUMMARYThe association between the Y chromosome haplogroup D2 and risk of azoospermia and low sperm motility has been previously studied, and it was indicated that haplogroups DE (YAP lineage) are associated with prostate cancer risk in Japanese males. Our assumption had been that Y chromosome haplogroups may be associated with sex hormone levels, because sex hormones have been deemed responsible for spermatogenesis and carcinogenesis. In this study, we assessed the association between Y chromosome haplogroups and sex hormone levels, including those of testosterone, sex hormone-binding globulin (SHBG), follicle-stimulating hormone (FSH), luteinizing hormone (LH), inhibin-B, and calculated free testosterone (cFT), in 901 young men from the general Japanese population (cohort 1) and 786 Japanese men of proven fertility (cohort 2). We found that the haplogroup D2a1 was significantly associated with high LH levels in a combined analysis involving two cohorts (b = 0.068, SE = 0.025, p = 0.0075), following correction for multiple testing. To date, this result is the first evidence that implicates Y chromosome haplogroups in an association with sex hormone levels.

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Identification of a Y chromosome haplogroup associated with reduced sperm counts

Cited by 86 publications

References 28 publications

The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese

Prostate cancer incidence varies among males from different Y-chromosome lineages

Y chromosome haplogroup D2a1 is significantly associated with high levels of luteinizing hormone in Japanese men

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