Association of Rho-kinase Gene Polymorphisms with Respiratory Distress Syndrome in Preterm Neonates

Kaya, Gülşen; Sivaslı, Ercan; Öztuzcu, Serdar; Melekoğlu, Nuriye Aslı; Ozkara, Esma; Sarıkabadayı, Unal; Demiryürek, Abdullah Tuncay

doi:10.1016/j.pedneo.2015.12.006

Cited by 11 publications

(12 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Interestingly, TGCA and TGCT haplotypes were only observed among the cases. Although none of the controls had TGCT haplotype, it was seen in 26% of the infants with respiratory distress syndrome [35]. It should be emphasized that rs2271255 (Lys222Glu) and rs726843 polymorphisms have not been associated with any other disease yet.…”

Section: Respiratory Distress Syndromementioning

confidence: 89%

“…There is evidence that ROCK1 gene rs2271255 (Lys222Glu) and rs35996865 polymorphisms, and ROCK2 gene rs726843, rs2290156, rs10178332, rs35768389 (Asp601Val) polymorphisms are signiicantly associated with respiratory distress syndrome, and that these polymorphisms could be a risk factor for the development of neonatal respiratory distress syndrome [35]. High odds ratios were observed with these polymorphisms.…”

Section: Respiratory Distress Syndromementioning

confidence: 99%

“…[35] rs73963110 [35] Schizophrenia rs8085654, rs288980, rs1481280 [42] Breast cancer rs2230774 (Thr431Asn) [9] rs1130757 (Arg83Lys) [9] Gastric cancer S457N [12] Colorectal cancer rs2290156, rs10178332, rs35768389, rs10929732, rs34945852…”

Section: Refmentioning

confidence: 99%

“…The Thr431Asn polymorphism lies immediately carboxyl-terminal to the start of the putative coiled-coil region and encodes an amino acid substitution in the predicted coiled-coil domain of the protein, which is associated with ROCK2/ROCK2 parallel homodimerization Cardiac septal defects rs2230774 (Thr431Asn) [26] Systemic sclerosis rs10178332 [28] rs2230774 (Thr431Ser), rs2230774 (Thr431Asn), rs35768389 (Asp601Val), rs726843, rs2290156, rs965665, rs6755196, rs10929732 [28] Behçet's disease rs35768389 (Asp601Val), rs1515219 [29] rs726843, rs2290156, rs965665, rs10178332, rs2230774, rs6755196, rs10929732, rs34945852 [29] Rheumatoid arthritis rs1868584 [23] Diabetic retinopathy rs2230774 (Thr431Asn), rs1130757 (Arg83Lys) [31] Primary open-angle glaucoma rs2290156, rs965665, rs10178332, rs2230774 (Thr431Asn), rs2230774 (Thr431Ser), rs6755196, rs726843 [32] Ischemic stroke rs921322, rs8996, rs6753921, rs2230774, rs1515219, rs6716817, rs10203916, rs6755337, rs12622447 [33] Obesity-related metabolic syndrome rs2230774 (Thr431Asn) [34] rs2230774 (Thr431Ser), rs726843, rs2290156, rs965665, rs10178332, rs6755196 [34] Respiratory distress syndrome rs726843, rs2290156, rs10178332, rs35768389 (Asp601Val) [35] rs1515219, rs965665, rs2230774 (Thr431Asn), rs6755196, rs10929732 [35] Chronic kidney disease rs2230774 (Thr431Asn) [36] Urinary albumin excretion rs1515219, rs2290156 [37] Overactive bladder rs2230774 (Thr431Asn) [38] Idiopathic generalized epilepsy rs2230774 (Thr431Asn) [39] Migraine rs2230774 (Thr431Asn) [40] Diabetes rs1868584 (with type-1 diabetes)…”

Section: Structure or Function Of The Rock Enzymes Afected By Polymormentioning

confidence: 99%

See 3 more Smart Citations

Rho‐kinase Gene Polymorphisms in Related Disease States

Demiryürek¹,

Demiryürek²

2017

Genetic Polymorphisms

View full text Add to dashboard Cite

The Rho-kinase (ROCK) family members, consisting of ROCK1 and ROCK2, are serinethreonine kinases that are activated by small GTPases. ROCKs play central roles in the actin cytoskeleton organization and regulate a wide range of fundamental cellular functions, such as apoptosis, inlammatory responses, cell contractility, adhesion, migration, motility, proliferation, phagocytosis, and apoptosis. Accumulating evidence from basic and clinical studies supports the concept that ROCK plays important roles in many diseases and could be a potential therapeutic target for diverse disorders, including cardiovascular, neurologic, metabolic, autoimmune disorders, and cancers. Although there are only limited numbers of published studies related to ROCK polymorphisms in humans, the contribution of the genetic studies related to ROCK variants to the disease states is emerging. Identifying mutated genes or associated polymorphisms and evaluating their potential risks are important steps for understanding the genetic components and pathogenesis of diseases. Identiication of functional mutations or polymorphisms could potentially help in the development of novel ROCK-speciic therapies in related disease states.

show abstract

Section: Respiratory Distress Syndromementioning

confidence: 89%

Section: Respiratory Distress Syndromementioning

confidence: 99%

Section: Refmentioning

confidence: 99%

Section: Structure or Function Of The Rock Enzymes Afected By Polymormentioning

confidence: 99%

See 2 more Smart Citations

Rho‐kinase Gene Polymorphisms in Related Disease States

Demiryürek¹,

Demiryürek²

2017

Genetic Polymorphisms

View full text Add to dashboard Cite

show abstract

“…Activated RhoA has the capability of influencing a variety of biological behaviors, such as cell cycle regulation, transcription factor activation and smooth muscle contraction ( 16 ). Rho kinase is a downstream signaling protein of RhoA, and G-protein-coupled receptor can activate RhoA through ET receptor, thus activating Rho kinase and mediating the differentiation, proliferation and migration of vascular endothelial cells ( 17 , 18 ). Prior studies have confirmed that CASZI can regulate the endothelial cell adhesion through RhoA, and promote vascular buds.…”

Section: Discussionmentioning

confidence: 99%

Effects of CASZI on bronchopulmonary development of neonatal rats

Tong

et al. 2017

Exp Ther Med

View full text Add to dashboard Cite

The effect of CASZI on bronchopulmonary development in neonatal rats was investigated. Forty SD rats were randomly divided into the control group (n=20) and the experimental group (n=20) using a random number table. The experimental group was treated with hyperoxia to establish the bronchopulmonary dysplasia (BPD) model, while the control group received no treatment. At 14 days of experiment, rats in each group were treated, and lung tissues were taken for hematoxylin and eosin (H&E) staining. Radial alveolar count (RAC) and morphological changes in lung tissues were observed under a microscope, and the thickness of respiratory membrane was detected via IPP6 image. Reverse transcription-polymerase chain reaction (RT-PCR) and western blotting were used to detect the expression levels of CASZI, Rho kinase, RhoA and ET-A receptor in lung tissues. There were no obviously pathological changes in lung tissues of neonatal rats in the control group, while BPD could be seen in lung tissue structures of neonatal rats in the experimental group. RAC in experimental group was significantly lower than that in the control group (P<0.05), and the thickness of respiratory membrane was significantly higher than that in the control group (P<0.05). CASZI mRNA expression level in the experimental group was significantly lower than that in control group (P<0.05), and Rho kinase, RhoA and ET-A receptor mRNA expression levels were significantly higher than those in the control group (P<0.05). CASZI protein expression level in the experimental group was significantly lower than that in the control group (P<0.05), and the Rho kinase, RhoA and ET-A receptor protein expression levels were significantly higher than those in the control group (P<0.05). In conclusion, CASZI expression was downregulated during the development of BPD. CASZI downregulation may have an effect on the pulmonary microvascular regeneration through RhoA/ROCK signaling pathway, thus participating in the pathogenesis of BPD.

show abstract

Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population

Shen

Kuang

Wang

et al. 2020

Pediatrics & Neonatology

View full text Add to dashboard Cite

Background: The study of genetic polymorphisms of surfactant-lipids related genes can help to understand individual variability in the susceptibility to development of pulmonary pathologies. The purpose of this study was to evaluate the association of polymorphisms of surfactant-lipids related genes (LPCAT1, CHPT1 and PCYT1B) with the risk/severity of respiratory distress syndrome (RDS) in preterm neonates among the Chinese Han population in Southern China. Methods: Four hundred and forty-six preterm neonates were enrolled in a case-control study. Six polymorphisms of 3 genes were analyzed by PCR amplification of genomic DNA and genotyping was performed using an improved multiplex ligation detection reaction (iMLDR) technique based on LDR. Results: The GG genotype and G allele of LPCAT1-rs9728 were found less frequently in the RDS group than in the controls (11.5% vs. 22.0% and 38.3% vs. 48.2%, respectively) (p < 0.05). Conclusion: This report is the first study to evaluate a direct genetic association between polymorphisms of LPCAT1 and RDS development in Chinese Han preterm infants. Our study raises the possibility that a genetic variation of LPCAT1 could be implicated in the pathophysiology of RDS in preterm neonates. GG genotype and G allele of rs9728 are protective factors for the development of RDS in preterm infants.

show abstract

Association of Rho-kinase Gene Polymorphisms with Respiratory Distress Syndrome in Preterm Neonates

Abstract: This is the first study to examine the involvement of ROCK gene variation in the risk of incident RDS. The results strongly suggest that ROCK gene polymorphisms may modify individual susceptibility to RDS in the Turkish population.

Cited by 11 publications

References 23 publications

Rho‐kinase Gene Polymorphisms in Related Disease States

Rho‐kinase Gene Polymorphisms in Related Disease States

Effects of CASZI on bronchopulmonary development of neonatal rats

Genetic Polymorphisms of LPCAT1, CHPT1 and PCYT1B and Risk of Neonatal Respiratory Distress Syndrome among a Chinese Han Population

Contact Info

Product

Resources

About