Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome

Li, Wang; Chen, Long; Renjun, Li; Zhangxue, Hu; Yin, Hu; Li, Wanwei; Ma, Juan; Shi, Yuan

doi:10.1038/srep17317

Cited by 17 publications

(10 citation statements)

References 21 publications

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“…The epithelial sodium channel (ENaC) is expressed in several excretory organs such as the salivary glands, kidney, and lung [ 1 , 2 , 3 , 4 , 5 , 6 ]. There are four ENaC channel subunits, i.e., α, β, γ, and δ, in humans [ 7 ], which are encoded by four genes ( SCNN1A, SCNN1B, SCNN1G , and SCNN1D , respectively).…”

Section: Introductionmentioning

confidence: 99%

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Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure

2018

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This study was performed to investigate whether genetic variation in the epithelial sodium channel (ENaC) is associated with 24-h urinary sodium excretion and blood pressure. A total of 3345 participants of the KoGES_Ansan and Ansung study were eligible for this study. Genomic DNA samples were isolated from peripheral blood and genotyped on the Affymetrix Genome-Wide Human SNP Array 5.0. Thirty-four single nucleotide polymorphisms (SNPs) were extracted for gene regions (SCNN1A, SCNN1B, and SCNN1G) as additive components by using Plink. Twenty-four-hour sodium excretions were estimated from spot urine samples using the Tanaka formula. The general linear model (GLM) was applied to assess the association between SNPs and urinary sodium excretion or blood pressure. In the SCNN1G gene, six SNPs (rs4073291, rs12934362, rs7404408, rs4494543, rs5735, and rs6497657) were significantly different in 24-h urinary sodium excretion according to gene variants. However, no difference was found in blood pressure among participants with gene variants of ENaC. Our finding indicated that 24-h urinary sodium excretions were different according to variants of the SCNN1G gene in large samples. Further studies to replicate these findings are warranted.

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Section: Introductionmentioning

confidence: 99%

“…SCNN1A appears to be essential in fluid transport in the lung. Genetic variants of SCNN1A were associated with the risk of neonatal respiratory distress syndrome [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure

2018

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“…Previous work has examined the relationships between maternal IL SNPs and obstetrical complications (Engel et al, 2005; Harmon et al, 2014; Moura et al, 2009; Qaddourah et al, 2014; Sowmya et al, 2014). Other studies have focused on the NICU infant's IL genotype/s and subsequent outcomes, including respiratory distress syndrome (RDS; Capasso et al, 2007; Li et al, 2015; Shen, Du, Wang, & Zeng, 2014), abnormal periventricular ultrasound findings (Dordelmann et al, 2006), and bronchopulmonary dysplasia (Yanamandra, Boggs, Loggins, & Baier, 2005). Similar to our work, which examined the relationship between maternal genotype and infant outcome, Pogliani, Muggiasca, Arrigoni, Rossi, and Zuccotti (2010) examined maternal methylenetetrahydrofolate reductase ( MTHFR ) genotypes and subsequent neonatal cerebral lesions.…”

Section: Discussionmentioning

confidence: 99%

Maternal Interleukin Genotypes Are Associated With NICU Outcomes Among Low-Birth-Weight Infants

Baumgartel

Groër

Cohen

et al. 2016

Biological Research For Nursing

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Background Maternal interleukin (IL) single nucleotide polymorphisms (SNPs) are associated with obstetrical outcomes. Conversely, infant SNPs are associated with subsequent neonatal intensive care unit (NICU) outcomes. Little is known about relationships between maternal SNPs and neonatal outcomes. Purpose To examine the relationships between maternal IL genotypes and neonatal outcomes. Methods An ancillary study was conducted among mothers (N = 63) who delivered very low-birth-weight infants (N = 74). Maternal DNA was extracted from breast milk and genotyped. Outcomes included fecal calprotectin, length of stay, scores for neonatal acute physiology with perinatal extension (SNAPPE-II), weight gain, oxygen needs, necrotizing enterocolitis, intraventricular hemorrhage, sepsis, retinopathy of prematurity, blood transfusions, and feeding intolerance. Multivariate analyses examined the relationships between maternal IL SNPs and outcomes, controlling for gestational age and the ratio of maternal milk to total milk. Results Absence of a minor allele in 2 IL6 SNPs was associated with fecal calprotectin (p = .0222, p = .0429), length of stay (p = .0158), SNAPPE-II (p = .0497), weight gain (p = .0272), and days on oxygen (p = .0316). IL6 genotype GG (rs1800795) was associated with length of stay (p = .0034) and calprotectin (p = .0213). Minor-allele absence in 2 IL10 SNPs was associated with days on oxygen (p = .0320). There were associations between IL10 genotype TT (rs1800871) and calprotectin (p = .0270) and between IL10 genotypes AA (rs1800872 and rs1800896) and calprotectin (p = .0158, p = .0045). Conclusion Maternal IL SNPs are associated with NICU outcomes. A potential clinical application includes an antenatal risk profile to identify neonatal needs.

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“…Lung tissue slices taken during autopsies of near-term and term infants who died of neonatal RDS showed that some alveoli were obviously dilated, with a large amount of lung fluid. This was in addition to an alveolar collapse from a lack of surfactant, and suggested that lung fluid absorption disorders might be an important additional cause of RDS by influencing gas exchange or surfactant function ( 486 ). In their study on 120 neonates with RDS and 129 controls, 7 newborns died despite of intensive care and surfactant replacement therapy.…”

Section: Specific Clinical Settings With Potential Significance Of Almentioning

confidence: 99%

Cytokine–Ion Channel Interactions in Pulmonary Inflammation

et al. 2018

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The lungs conceptually represent a sponge that is interposed in series in the bodies’ systemic circulation to take up oxygen and eliminate carbon dioxide. As such, it matches the huge surface areas of the alveolar epithelium to the pulmonary blood capillaries. The lung’s constant exposure to the exterior necessitates a competent immune system, as evidenced by the association of clinical immunodeficiencies with pulmonary infections. From the in utero to the postnatal and adult situation, there is an inherent vital need to manage alveolar fluid reabsorption, be it postnatally, or in case of hydrostatic or permeability edema. Whereas a wealth of literature exists on the physiological basis of fluid and solute reabsorption by ion channels and water pores, only sparse knowledge is available so far on pathological situations, such as in microbial infection, acute lung injury or acute respiratory distress syndrome, and in the pulmonary reimplantation response in transplanted lungs. The aim of this review is to discuss alveolar liquid clearance in a selection of lung injury models, thereby especially focusing on cytokines and mediators that modulate ion channels. Inflammation is characterized by complex and probably time-dependent co-signaling, interactions between the involved cell types, as well as by cell demise and barrier dysfunction, which may not uniquely determine a clinical picture. This review, therefore, aims to give integrative thoughts and wants to foster the unraveling of unmet needs in future research.

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Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome

Cited by 17 publications

References 21 publications

Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure

Association of Genetic Variation in the Epithelial Sodium Channel Gene with Urinary Sodium Excretion and Blood Pressure

Maternal Interleukin Genotypes Are Associated With NICU Outcomes Among Low-Birth-Weight Infants

Cytokine–Ion Channel Interactions in Pulmonary Inflammation

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