Association between polymorphisms in the P2RY1 and SSTR2 genes and sudden infant death syndrome

Läer, Katharina; Vennemann, Marielle; Rothämel, Thomas; Klintschar, Michael

doi:10.1007/s00414-013-0887-7

Cited by 10 publications

(5 citation statements)

References 23 publications

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“…HTR1A is key for autonomic responses to cardiorespiratory regulation and homeostatic stress [ 37 ]. Stimulation of the receptor in the raphe nuclei causes a decrease in ventilatory response to hypercapnia, fragmented sleep with reduced body temperature, heart rate and body movement, and a reduction in cardiovascular response to stress [ 20 – 22 , 38 ]. In a different study [ 39 ], knock-out mice were produced with an overstimulation of serotonin.…”

Section: Discussionmentioning

confidence: 99%

Gene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS)

et al. 2021

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Background Both obstructive sleep apnea (OSA) and (at least a fraction of) sudden infant death syndrome (SIDS) are associated with impaired respiration. For OSA, an association with several gene variants was identified. Therefore, our hypothesis is that these polymorphisms might be of relevance in SIDS as well. Methods Twenty-four single nucleotide polymorphisms (SNPs) in 21 candidate genes connected to OSA, were genotyped in a total of 282 SIDS cases and 374 controls. Additionally, subgroups based on factors codetermining the SIDS risk (age, sex, season, and prone position) were established and compared as well. Results Two of the analyzed SNPs showed nominally significant differences between SIDS and control groups: rs1042714 in ADRB2 (adrenoceptor beta 2) and rs1800541 in EDN1 (endothelin 1). In the subgroup analyses, 10 further SNPs gave significant results. Nevertheless, these associations did not survive adjustment for multiple testing. Conclusions Our results suggest that there might be a link between SIDS and OSA and its resulting respiratory and cardiovascular problems, albeit this predisposition might be dependent on the combination with other, hitherto unknown gene variants. These findings may encourage replication studies to get a better understanding of this connection.

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Section: Discussionmentioning

confidence: 99%

Gene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS)

et al. 2021

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“…Genomic DNA was extracted from 0.5 mL aliquots of blood samples or tissue samples, as described previously 28 .…”

Section: Methodsmentioning

confidence: 99%

Sudden infant death syndrome revisited: serotonin transporter gene, polymorphisms and promoter methylation

Pfisterer

Meyer-Bockenkamp

et al. 2021

Pediatr Res

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Background Based on findings in the brain stems of SIDS victims, the serotonin transporter (5-HTT) gene has been discussed to be associated with SIDS. Methods In the largest study to date, we investigated the promoter length (5-HTTLPR) and intron 2 VNTR polymorphisms in 274 cases and 264 controls and the Ile425Val polymorphism in 65 cases and 64 controls. Moreover, the methylation of the internal promoter region was investigated in 35 cases and 14 controls. Results For 5-HTTLPR, we observed a trend towards an association of allele L (58.8% vs. 53.4%) with SIDS and significant results were observed after stratifying for age, season at death, and prone position. Nevertheless, when pooling all published data, a significant association of allele L with SIDS is confirmed (p: 0.001). For the intron 2 VNTR polymorphism, no significant differences were observed. After pooling, a significant accumulation of the rare allele 9 was observed in SIDS (2.1% vs. 0.6%; p: 0.018). For the Ile425Val polymorphism, no differences were observed. Conclusion We conclude that genetic variation at this gene might be of some importance in SIDS. Epigenetic analysis of the internal promoter, however, revealed no influence on the relative risk to succumb to SIDS. Impact This is the largest study published up to now on 5-HTT gene polymorphisms and SIDS. Polymorphisms in the 5-HTT gene appear to contribute (although to a small degree) to the risk to die from SIDS. There is no evidence that a methylation of the promoter region is of impact for the etiology of SIDS.

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“…Ion channel couplings of P2Y receptors are primarily of importance in neurons, but they have been detected in various other tissues, including cardiac muscle cells (Abbracchio et al, 2006; Vassort, 2001). Polymorphisms of P2Y 1 , P2Y 2 and P2Y 12 receptors have been identified associated with various diseases (Läer et al, 2013; Lev et al, 2007; Wesselius et al, 2013). There is dimerisation involving P2Y receptors with non-P2Y receptors, for example, rat P2Y 1 and adenosine A 1 receptors in neurons, in rat cortex, hippocampus and cerebellum (Yoshioka et al, 2002).…”

Section: P2y Receptorsmentioning

confidence: 99%

Purine and purinergic receptors

Burnstock

2018

Brain and Neuroscience Advances

254

182

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Adenosine 5′-triphosphate acts as an extracellular signalling molecule (purinergic signalling), as well as an intracellular energy source. Adenosine 5′-triphosphate receptors have been cloned and characterised. P1 receptors are selective for adenosine, a breakdown product of adenosine 5′-triphosphate after degradation by ectonucleotidases. Four subtypes are recognised, A 1 , A 2A , A 2B and A 3 receptors. P2 receptors are activated by purine and by pyrimidine nucleotides. P2X receptors are ligand-gated ion channel receptors (seven subunits (P2X1-7)), which form trimers as both homomultimers and heteromultimers. P2Y receptors are G protein-coupled receptors (eight subtypes (P2Y 1/2/4/6/11/12/13/14)). There is both purinergic short-term signalling and long-term (trophic) signalling. The cloning of P2X-like receptors in primitive invertebrates suggests that adenosine 5′-triphosphate is an early evolutionary extracellular signalling molecule. Selective purinoceptor agonists and antagonists with therapeutic potential have been developed for a wide range of diseases, including thrombosis and stroke, dry eye, atherosclerosis, kidney failure, osteoporosis, bladder incontinence, colitis, neurodegenerative diseases and cancer.

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Association between polymorphisms in the P2RY1 and SSTR2 genes and sudden infant death syndrome

Cited by 10 publications

References 23 publications

Gene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS)

Gene variants associated with obstructive sleep apnea (OSA) in relation to sudden infant death syndrome (SIDS)

Sudden infant death syndrome revisited: serotonin transporter gene, polymorphisms and promoter methylation

Purine and purinergic receptors

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