Transmission of Surfactant Protein Variants and Haplotypes in Children Hospitalized With Respiratory Syncytial Virus

Thomas, Neal J.; DiAngelo, Susan; Hess, Joseph; Fan, Ruzong; Ball, Margaret W; Myers, Kimberly R.; Willson, Douglas F.; Floros, Joanna

doi:10.1203/pdr.0b013e3181a1d768

Cited by 41 publications

(42 citation statements)

References 38 publications

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“…Polymorphisms in SFTPA2 (G223L) and SFTPD (M11T) were shown to be associated with severity of RSV infection in cohorts of patients from Finland and the United States (83, 92, 153). Several studies have also demonstrated a significant association between the FokI start codon polymorphism of the vitamin D receptor gene (VDR) (which codes for an intracellular receptor and transcription factor) and severity of RSV bronchiolitis (68, 80, 102).…”

Section: Respiratory Syncytial Virusmentioning

confidence: 99%

Human Genetic Determinants of Viral Diseases

et al. 2017

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Much progress has been made in the identification of specific human gene variants that contribute to enhanced susceptibility or resistance to viral diseases. Herein we review multiple discoveries made with genome-wide or candidate gene approaches that have revealed significant insights into virus–host interactions. Genetic factors that have been identified include genes encoding virus receptors, receptor-modifying enzymes, and a wide variety of innate and adaptive immunity-related proteins. We discuss a range of pathogenic viruses, including influenza virus, respiratory syncytial virus, human immunodeficiency virus, human T cell leukemia virus, human papilloma virus, hepatitis B and C viruses, herpes simplex virus, norovirus, rotavirus, parvovirus, and Epstein-Barr virus. Understanding the genetic underpinnings that affect infectious disease outcomes should allow tailored treatment and prevention approaches in the future.

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Section: Respiratory Syncytial Virusmentioning

confidence: 99%

Human Genetic Determinants of Viral Diseases

et al. 2017

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“…In contrast, Alanine at SP-A1 aa9 (rs1059047), and Proline at SP-A2 aa91 (rs17886395), were found to be protective (151). Other protective associations included the SP-A1 6A variant (151), SP-A2 variants 1A 2 (152, 153), and 1A (151), 1A 0 /1A 0 genotype (153), and haplotypes, SP-A1/SP-A2 6A 2 /1A 3 (151), SP-D Met11 (rs721917)/Ala160 (rs2243639) (152), and SP-A1/SP-A2/SP-D 6A 2 /1A 0 /Ala160 (rs2243639) (152). SP-A has the ability to bind RSV virion glycoproteins and enhance its uptake by immune cells (156, 157).…”

Section: Association Of Sp-a and Sp-d Polymorphisms With Diseasementioning

confidence: 99%

Genetic variant associations of human SP-A and SP-D with acute and chronic lung injury

Silveyra

Floros²

2012

Front Biosci

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Pulmonary surfactant, a lipoprotein complex, maintains alveolar integrity and plays an important role in lung host defense, and control of inflammation. Altered inflammatory processes and surfactant dysfunction are well described events that occur in patients with acute or chronic lung disease that can develop secondary to a variety of insults. Genetic variants of surfactant proteins, including single nucleotide polymorphisms, haplotypes, and other genetic variations have been associated with acute and chronic lung disease throughout life in several populations and study groups. The hydrophilic surfactant proteins SP-A and SP-D, also known as collectins, in addition to their surfactant-related functions, are important innate immunity molecules as these, among others, exhibit the ability to bind and enhance clearance of a wide range of pathogens and allergens. This review focuses on published association studies of human surfactant proteins A and D genetic polymorphisms with respiratory, and non-respiratory diseases in adults, children, and newborns. The potential role of genetic variations in pulmonary disease or pathogenesis is discussed following an evaluation, and comparison of the available literature.

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“…Rs2243639, on the other hand, has been associated with ulcerative colitis [24] and risk of respiratory syncytial virus infection (RSV) in neonates [25]. No clinical associations have yet been reported for rs3088308.…”

Section: Introductionmentioning

confidence: 99%

SP-D Polymorphisms and the Risk of COPD

et al. 2012

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Abstract.Introduction: There are limited data linking serum levels of surfactant protein D, its genetic polymorphisms to the risk of Chronic Obstructive Pulmonary Disease (COPD). Objectives: We sought to investigate these relationships using a case control study design. Methods: Post bronchodilator values of FEV1/FVC <0.7 were used to diagnose COPD patients (n = 115). Controls were healthy subjects with normal spirometry (n = 106) Single nucleotide polymorphisms (rs721917, rs2243639, rs3088308) were genotyped using polymerase chain reaction (PCR) and restriction analysis. Serum SP-D levels were measured using a specific immunoassay. Results: Allele 'A' at rs3088308 (p < 0.00, B = −0.41) and 'C' allele at rs721917 (p = 0.03; B = −0.30) were associated with reduced serum SP-D levels. Genotype 'T/T' at rs721917 was significantly associated with risk of COPD (p = 0.01). Patients with repeat exacerbations had significantly higher serum SP-D even after adjusting for genetic factors. Conclusions: We report for the first time that rs3088308 is an important factor influencing systemic SP-D levels and confirm the previous association of rs721917 to the risk of COPD and serum SP-D levels.

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Transmission of Surfactant Protein Variants and Haplotypes in Children Hospitalized With Respiratory Syncytial Virus

Cited by 41 publications

References 38 publications

Human Genetic Determinants of Viral Diseases

Human Genetic Determinants of Viral Diseases

Genetic variant associations of human SP-A and SP-D with acute and chronic lung injury

SP-D Polymorphisms and the Risk of COPD

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