Association of SP-C gene codon 186 polymorphism (rs1124) and risk of RDS

Fatahi, Neda; Dalili, Hosein; Kalani, Majid; Niknafs, Nikoo; Shariat, Mamak; Bazzaz, Javad Tavakkoly; Amini, Elaheh; Shirvani, Tahereh Esmaeilnia; Hardani, Amir Kamal; Taheritafti, Roya; Ghasemi-Fakhr, Nasrin; Ghadami, Mohsen; Nayeri, Fatemeh; Rashidi-Nezhad, Ali

doi:10.1080/14767058.2016.1256994

Cited by 11 publications

(6 citation statements)

References 22 publications

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“…The SNPs, rs1124 and rs4715, are exonic splicing enhancers, while rs8192309, rs8192313, rs13248346, rs2070686 and rs4995702 are all transcription factor binding sites, as predicted using the SNPinfo method, as previously reported ( 31 ) ( Table SI ). It has also been reported that the rs4715 SNP was associated with respiratory distress syndrome ( 5 , 14 , 16 ); however, this was not identified in the present study. The results also suggested that the SNP rs1124 may serve an important role in disease development, which was in accordance with the results of previous studies ( 5 , 13 , 14 , 16 ).…”

Section: Discussioncontrasting

confidence: 84%

“…It has also been reported that the rs4715 SNP was associated with respiratory distress syndrome ( 5 , 14 , 16 ); however, this was not identified in the present study. The results also suggested that the SNP rs1124 may serve an important role in disease development, which was in accordance with the results of previous studies ( 5 , 13 , 14 , 16 ). The SNPs, rs4715 and rs1124, are both missense, in which the amino acids 138 (Thr/Asn) and 186 (Ser/Asn) are changed, respectively; however, the potential mechanisms in which they affect function remain unknown.…”

Section: Discussioncontrasting

confidence: 84%

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<em>SFTPC</em> genetic polymorphisms are associated with tuberculosis susceptibility and clinical phenotype in a Western Chinese Han population

et al. 2020

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Tuberculosis (TB) is one of the most common infectious diseases globally. The surfactant protein C (SFTPC), which is involved in innate immunity and surfactant function in the lung, may contribute toward the progression of TB. The aim of the present study was to preliminarily investigate the possible association of single nucleotide polymorphisms (SNPs) in the SFTPC gene with TB susceptibility and clinical phenotypes in a Western Chinese Han population. The improved multiplex ligation detection reaction method was used to genotype 6 SNPs in SFTPC , in 900 patients with TB and 1,534 healthy control subjects. It was found that the A allele for rs1124 and the C allele for rs8192313 were associated with increased susceptibility to TB, P=0.024 and P=0.045, respectively. However, these two P-values were not significant following Bonferroni correction. In all samples, the haplotype [CGA], representing three SFTPC variants, was revealed to increase the risk of TB (P=0.001 and P=0.005, following Bonferroni correction). Furthermore, patients with the AA genotype for rs1124 and with the CC genotype for rs8192313 were associated with higher levels of C-reactive protein (P=0.001 and P=0.005, respectively). The results of the present study indicated that the SFTPC SNPs may increase the susceptibility to TB and the immune response of the host to Mycobacterium tuberculosis and may potentially be novel biomarkers for the pathogenesis of TB.

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Section: Discussioncontrasting

confidence: 84%

Section: Discussioncontrasting

confidence: 84%

<em>SFTPC</em> genetic polymorphisms are associated with tuberculosis susceptibility and clinical phenotype in a Western Chinese Han population

et al. 2020

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“…None of the SNPs were identified in the three SNP model, even though single SFTPC SNPs have been associated with RDS ( 38 , 81 ) and other pulmonary diseases such as interstitial lung disease ( 82 ). The hydrophobic SFTPB and SFTPC SNPs showed significant interactions in the two SNP model but not in the three SNP model.…”

Section: Discussionmentioning

confidence: 99%

Single Nucleotide Polymorphisms Interactions of the Surfactant Protein Genes Associated With Respiratory Distress Syndrome Susceptibility in Preterm Infants

Amatya

Yang

et al. 2021

Front. Pediatr.

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Background: Neonatal respiratory distress syndrome (RDS), due to surfactant deficiency in preterm infants, is the most common cause of respiratory morbidity. The surfactant proteins (SFTP) genetic variants have been well-studied in association with RDS; however, the impact of SNP-SNP (single nucleotide polymorphism) interactions on RDS has not been addressed. Therefore, this study utilizes a newer statistical model to determine the association of SFTP single SNP model and SNP-SNP interactions in a two and a three SNP interaction model with RDS susceptibility.Methods: This study used available genotype and clinical data in the Floros biobank at Penn State University. The patients consisted of 848 preterm infants, born <36 weeks of gestation, with 477 infants with RDS and 458 infants without RDS. Seventeen well-studied SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD SNPs were investigated. Wang's statistical model was employed to test and identify significant associations in a case-control study.Results: Only the rs17886395 (C allele) of the SFTPA2 was associated with protection for RDS in a single-SNP model (Odd's Ratio 0.16, 95% CI 0.06–0.43, adjusted p = 0.03). The highest number of interactions (n = 27) in the three SNP interactions were among SFTPA1 and SFTPA2. The three SNP models showed intergenic and intragenic interactions among all SFTP SNPs except SFTPC.Conclusion: The single SNP model and SNP interactions using the two and three SNP interactions models identified SFTP-SNP associations with RDS. However, the large number of significant associations containing SFTPA1 and/or SFTPA2 SNPs point to the importance of SFTPA1 and SFTPA2 in RDS susceptibility.

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“…The potential mechanisms via which these may affect function are not known. The two SP-C variants (rs1124, Ser/Asn and rs4715, Thr/Asn) have previously been associated with RDS ( 86 , 88 , 89 ), and children infected with respiratory syncytial virus (RSV) ( 90 ).…”

Section: Discussionmentioning

confidence: 99%

Genetic Association of Pulmonary Surfactant Protein Genes, SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD With Cystic Fibrosis

Lin

Thorenoor

et al. 2018

Front. Immunol.

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Surfactant proteins (SP) are involved in surfactant function and innate immunity in the human lung. Both lung function and innate immunity are altered in CF, and altered SP levels and genetic association are observed in Cystic Fibrosis (CF). We hypothesized that single nucleotide polymorphisms (SNPs) within the SP genes associate with CF or severity subgroups, either through single SNP or via SNP-SNP interactions between two SNPs of a given gene (intragenic) and/or between two genes (intergenic). We genotyped a total of 17 SP SNPs from 72 case-trio pedigree (SFTPA1 (5), SFTPA2 (4), SFTPB (4), SFTPC (2), and SFTPD (2)), and identified SP SNP associations by applying quantitative genetic principles. The results showed (a) Two SNPs, SFTPB rs7316 (p = 0.0083) and SFTPC rs1124 (p = 0.0154), each associated with CF. (b) Three intragenic SNP-SNP interactions, SFTPB (rs2077079, rs3024798), and SFTPA1 (rs1136451, rs1059057 and rs4253527), associated with CF. (c) A total of 34 intergenic SNP-SNP interactions among the 4 SP genes to be associated with CF. (d) No SNP-SNP interaction was observed between SFTPA1 or SFTPA2 and SFTPD. (e) Equal number of SNP-SNP interactions were observed between SFTPB and SFTPA1/SFTPA2 (n = 7) and SP-B and SFTPD (n = 7). (f) SFTPC exhibited significant SNP-SNP interactions with SFTPA1/SFTPA2 (n = 11), SFTPB (n = 4) and SFTPD (n = 3). (g) A single SFTPB SNP was associated with mild CF after Bonferroni correction, and several intergenic interactions that are associated (p < 0.01) with either mild or moderate/severe CF were observed. These collectively indicate that complex SNP-SNP interactions of the SP genes may contribute to the pulmonary disease in CF patients. We speculate that SPs may serve as modifiers for the varied progression of pulmonary disease in CF and/or its severity.

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Association of SP-C gene codon 186 polymorphism (rs1124) and risk of RDS

Cited by 11 publications

References 22 publications

<em>SFTPC</em> genetic polymorphisms are associated with tuberculosis susceptibility and clinical phenotype in a Western Chinese Han population

<em>SFTPC</em> genetic polymorphisms are associated with tuberculosis susceptibility and clinical phenotype in a Western Chinese Han population

Single Nucleotide Polymorphisms Interactions of the Surfactant Protein Genes Associated With Respiratory Distress Syndrome Susceptibility in Preterm Infants

Genetic Association of Pulmonary Surfactant Protein Genes, SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD With Cystic Fibrosis

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