Dataset Information

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility.

ABSTRACT:

Background

The circadian system has a major role in maintaining homeostasis and proper body functions including reproductive capacity. The aim of this study was to examine whether there is an association between genetic variability in the primary clock genes CLOCK and ARNTL and male infertility in humans.

Methodology/principal findings

We performed a case-control study, where we searched for an association between polymorphisms of CLOCK and ARNTL genes and male infertility in 961 Slovenian and Serbian Caucasian men. The study group consisted of 517 patients with idiopathic infertility and a control group of 444 fertile men. A statistically significant difference was found in genotype distribution between the two groups in the CLOCK gene: rs11932595 (p?=?6·10(-5), q?=?4·10(-4), OR equaled 1.9 with 95% CI 1.4-2.7), rs6811520 (p?=?2·10(-3), q?=?8·10(-3), OR?=?1.7 with 95% CI 1.2-2.2) and rs6850524 (p?=?0.01, q?=?0.02, OR?=?1.4 with 95% CI 1.1-1.9). Further analyses of haplotypes were consistent with genotyping results.

Conclusions/significance

We provide evidence that genetic variability in the CLOCK gene might be associated with male infertility warranting further confirmation and mechanistic investigations.

SUBMITTER: Hodzic A

PROVIDER: S-EPMC3601062 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Publications

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility.

Hodžić Alenka A Ristanović Momčilo M Zorn Branko B Tulić Cane C Maver Aleš A Novaković Ivana I Peterlin Borut B

PloS one 20130318 3

<h4>Background</h4>The circadian system has a major role in maintaining homeostasis and proper body functions including reproductive capacity. The aim of this study was to examine whether there is an association between genetic variability in the primary clock genes CLOCK and ARNTL and male infertility in humans.<h4>Methodology/principal findings</h4>We performed a case-control study, where we searched for an association between polymorphisms of CLOCK and ARNTL genes and male infertility in 961 ...[more]

PMID: 23527142

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Project description:Circadian expression rhythms of clock gene products in the bladder are reportedly hindered by clock gene abnormalities. However, the role of clock gene products in various pathological lower urinary tract conditions is unknown. The present study examined the relationship between clock genes and voiding dysfunction in spontaneous hypertensive rats (SHR). The voluntary voiding behavior study using metabolic cages was performed in 18-weeks old male Wistar rats (control group, n = 36) and SHR (SHR group, n = 36) under 12-h light/12-h dark conditions. Bladders were harvested every 4 h at six time points (n = 6 for each time point for each group), and we analyzed the messenger RNA (mRNA) expression of several clock genes: period 2 (Per2), cryptochrome 2 (Cry2), brain and muscle aryl hydrocarbon receptor nuclear translocator-like protein 1 (Bmal1), circadian locomotor output cycles kaput (Clock), nuclear receptor subfamily 1, group D, member 1 (Rev-erbα), mechanosensors: transient receptor potential vanilloid channel 1 (TRPV1), TRPV4, Piezo1, and vesicular nucleotide transporter (VNUT) using real-time polymerase chain reaction. Though 24-h urination frequency for both light and dark periods was significantly higher in the SHR group, urine volume per voiding was significantly lower versus control. In controls, urine volume per voiding was significantly lower during the dark period (active phase) than the light period (rest phase); this parameter did not significantly differ between active and rest phases for SHR. SHR bladders showed significantly higher expression of Cry2 and Clock during the active phase compared to controls. In the SHR group, TRPV1, TRPV4, Piezo1, and VNUT mRNA levels were significantly higher during the active phase compared to the control group. We speculate that Cry2 and Clock may be contributing factors in the decrease of bladder capacity during the active phase in SHR through increase of TRPV1, TRPV4, Piezo1, and VNUT expression, but further research will be necessary to elucidate the precise mechanisms.

Dataset Information

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility.

Background

Methodology/principal findings

Conclusions/significance

Publications

Genetic variation in circadian rhythm genes CLOCK and ARNTL as risk factor for male infertility.

Similar Datasets

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