Sodium/proton exchanger 3 (NHE3) and sudden infant death syndrome (SIDS)

Studer, Jacqueline; Bärtsch, Christine; Haas, Cordula

doi:10.1007/s00414-014-0978-0

Cited by 5 publications

(7 citation statements)

References 41 publications

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“…Most comparable studies have a cohort size of well under 200 [e.g., [31][32][33], and recently, it was proposed that such a study should ideally comprise at least 200 case samples [34]. This criterion would be almost doubly fulfilled by our study on 366 SIDS cases and 421 controls.…”

Section: Discussionmentioning

confidence: 91%

Polymorphisms in genes of respiratory control and sudden infant death syndrome

et al. 2015

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Sudden infant death syndrome (SIDS) is a multifactorial syndrome and assumingly, among other mechanisms, a deficit in respiratory control leads to a failure of arousal and autoresuscitation when the child is challenged by a stressful homeostatic event, e.g., hypoxia. We hypothesize that genetic polymorphisms involved in respiratory control mediated in the medulla oblongata contribute to SIDS. Therefore, a total of 366 SIDS cases and 421 controls were genotyped for 48 SNPs in 41 candidate genes. Genotyping was performed using Fluidigm nanofluidic technology. Results were obtained for 356 SIDS and 406 controls and 38 SNPs. After correction for multiple testing, one SNP retained a nominally significant association with seasonal SIDS: rs1801030 in the phenol sulfotransferase 1A1 gene (subgroup: death occurring during summer). A borderline association could be also observed for rs563649 in the opioid receptor μ1 gene in a recessive model (subgroup: death occurring during autumn). As a conclusion, although these data suggest two SNPs to be associated with different subgroups of SIDS cases, none of them can fully explain the SIDS condition, consistent with its multifactorial etiology. Given the great complexity of respiratory control and our initial findings reported here, we believe it is worthwhile to further investigate genes involved in the respiratory system.

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Section: Discussionmentioning

confidence: 91%

Polymorphisms in genes of respiratory control and sudden infant death syndrome

et al. 2015

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“…Three SNPs (rs71597645 (G1131A), rs2247114 (C2405T), and rs187829972 (C1197T)) that may explain the overexpression of NHE3 were reported to be associated with SIDS [ 7 ]. However, conflicting results showing a lack of association of these three variants with SIDS were reported in a validation study [ 8 ]. In our study, no significant association of rs71597645 with SIDS was observed, even after meta-analyses.…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the same research group identified three single-nucleotide polymorphisms (SNPs) from NHE3 (missense variant: C2405T; promoter variants: G1131A and C1197T) that were significantly associated with SIDS [ 7 ] and might explain the previously reported overexpression of NHE3 in the brainstem. However, a subsequent study failed to confirm these results [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Revisiting the association of sudden infant death syndrome (SIDS) with polymorphisms of NHE3 and IL13

Qu,

Schürmann,

Rothämel

et al. 2023

Int J Legal Med

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Objectives Disturbances of the central nervous system and immune system are thought to play a role in sudden infant death syndrome (SIDS). Dysregulated expression of sodium (Na+)/hydrogen (H+) exchanger 3 (NHE3) in the brainstem and of interleukin 13 (IL13) in the lungs has been observed in SIDS. An association of single-nucleotide polymorphisms (SNPs) in NHE3 and IL13 with SIDS has been proposed, but controversial results were reported. Therefore, there is a need to revisit the association of SNPs in NHE3 and IL13 with SIDS. Methods Genotyping of rs71597645 (G1131A) and rs2247114 (C2405T) in NHE3 and rs20541 (+ 4464A/G) in IL13 was performed in 201 SIDS cases and 338 controls. A meta-analysis was performed after merging our data with previously published data (all from European populations). Results Polymorphisms rs2247114 (NHE3) and rs20541 (IL13) were significantly associated with SIDS overall and in multiple subgroups, but no association was found for rs71597645 (NHE3). After combining our data with previously published data, a fixed-effect meta-analysis showed that rs2247114 in NHE3 retained a significant association with SIDS under a recessive model (OR 2.78, 95%CI 1.53 to 5.06; p = 0.0008). Conclusion Our findings suggest an association of NHE3 variant rs2247114 (C2405T), though not rs71597645 (NHE3), with SIDS. A potential role of rs20541 (IL13) still has to be elucidated. Especially NHE3 seems to be an interesting topic for future SIDS research.

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“…ClC5, FcRn, NaPi-IIa gene are related with metabolic renal disease. DAB2, GIPC has an uncertain meaning in human pathology, but their pathogenic effect must be explored [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25].Considering the interaction between these genes, it would be very useful to analyze the relationship between polymorphisms of single base changes (SNP) of these genes, or the blocks of haplotypes and haplogroups that can be constructed with sets of SNP in T2D patients. Specially, the relationship of such variants with the development of peripheral neuropathy and the appropriate metformin doses.…”

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confidence: 99%

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confidence: 99%

Exploration of gene variations in the transcytosis system as a policy proposal for the personalized therapy in type 2 diabetes mellitus

Flores-Alvarado¹,

Villafán-Bernal²,

Cabrera-Pivaral³

et al. 2017

J Med Therap

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The gene system of transcytosis, integrated by LRP2, AMN, CUBN, ARH, AMN and CUBN, might be important for the treatment and monitoring of chronic complications of diabetics, as well as for drug interactions, since they mediate the reuptake of vitamins such as B complex, folic acid and lipoproteins, which are closely related to the progression of diabetes. That is why polymorphisms in those genes could be targets of personalized medicine, to improve the quality of health care. It is important for both the clinical researcher and physician to explore new personalized treatment options for better care of the diabetic patient. The search for genetic or genomic markers in order to predict complications of disease, progression as well as to evaluate the therapeutic response to drugs and the presentation of adverse effects is an area to be explored, considering the high costs that represent the attention of diabetics to hospitals from the public sector. Other reasons are that type 2 diabetes mellitus (T2D) patients develop complications related with the progression of the disease, as well as, adverse and side effects resulting from drug interactions [1,2]. T2D commonly presents deficiency of vitamin B complex, associated with the long-term consumption of metformin. The consequences of this deficiency are increased cardiovascular risk, renal damage and higher risk of peripheral neuropathy and senile dementia [1,2]. Additionally, the chronic consumption of statins for the control of hypercholesterolemia and cardiovascular risk results in secondary dyslipidemia myocytes inflammation [1,2].The common element that might explain the previously described complications and side effects in T2D diabetic patients is an axis of genes that encode for the system of transcytosis in the cellular membranes from small intestine, kidney, liver, striated muscle, and other tissues. The components of this transcytosis system are LRP2, AMN, CUBN, ARH, Dab2, GIPC, NHE3, ClC5, FcRn and NaPi-IIa, which mediate the reuptake of B complex vitamins, including folic acid among other molecules [3][4][5][6][7][8][9][10].The clinical effect of these genes might be seen in the development of different diseases or clinical conditions (Table 1). Mutations in LRP2 have been associated with diabetes, aminoglucosides response, DonnaiBarrow syndrome (DBS), Facio-oculo-acoustic-renal syndrome (FOAR) and Alzheimer's disease. While mutations in AMN and CUB occur with megaloblastic anemia plus albuminuria. CUBallelic variants are related to the progression of renal damage and ARH variations are associated with hypercholesterolemia [3][4][5][6][7][8][9][10]. NHE3 mutations show association with congenital sodium diarrhea, whereas ClC5 gene is related to renal failure or Dent disease. ClC5, FcRn, NaPi-IIa gene are related with metabolic renal disease. DAB2, GIPC has an uncertain meaning in human pathology, but their pathogenic effect must be explored [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25].Considering the interaction between these genes...

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Sodium/proton exchanger 3 (NHE3) and sudden infant death syndrome (SIDS)

Cited by 5 publications

References 41 publications

Polymorphisms in genes of respiratory control and sudden infant death syndrome

Polymorphisms in genes of respiratory control and sudden infant death syndrome

Revisiting the association of sudden infant death syndrome (SIDS) with polymorphisms of NHE3 and IL13

Exploration of gene variations in the transcytosis system as a policy proposal for the personalized therapy in type 2 diabetes mellitus

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