Surfactant Protein A and B Genetic Variants and Respiratory Distress Syndrome: Allele Interactions

Floros, Joanna; Fan, Ruzong

doi:10.1159/000047173

Cited by 27 publications

(18 citation statements)

References 29 publications

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“…The results of population-based studies (Kala et al, 1998;Haataja et al, 2000Haataja et al, , 2001Ramet et al, 2000;Floros and Fan, 2001;Floros et al, 2001a, b;Marttila et al, 2003a, b) show significant associations between certain subgroups of IRDS and certain SP-A alleles. Some inconsistencies between studies are found possibly arising due to racial differences or differences in diagnostic criteria and perhaps confounders like degree of prematurity, steroid therapy, or multiple birth .…”

Section: Infant Respiratory-distress Syndrome (Irds)mentioning

confidence: 99%

Surfactant protein A and surfactant protein D variation in pulmonary disease

2007

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Section: Infant Respiratory-distress Syndrome (Irds)mentioning

confidence: 99%

Surfactant protein A and surfactant protein D variation in pulmonary disease

2007

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“…These associations may be also dependent on SP-B polymorphisms (188, 192, 193), and influenced by multiple birth and birth order (187, 190), antenatal glucocorticoid therapy (11, 194, 195), size of the uterus and length of gestation (2). The SP-A1 6A 2 /6A 2 genotype association with RDS susceptibility was also found to be influenced by multiple birth, being associated with risk when twins were concordant for RDS, or protective when twins were discordant for RDS (187, 190).…”

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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“…SP-B and SP-C play a key role in the surface tension lowering activity of surfactant, and SP-A and SP-D are important for the host defense function of the lung. Genetic variants of these genes have been associated with inflammatory lung diseases, such as respiratory distress syndrome (RDS), acute RDS (ARDS), chronic obstructive pulmonary disease (COPD), and lung cancer (19)(20)(21)(22)(23)(24).…”

Section: Introductionmentioning

confidence: 99%

DNA methylation markers of surfactant proteins in lung cancer

et al. 2007

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Abstract. Surfactant proteins play important roles in lung surfactant function and innate immunity. The DNA methylation state of 11 CpG sites of surfactant protein (SP)-A1, -B, -C, and -D was determined using universal bead arrays. A total of 90 cancerous and non-cancerous tissues from 23 patients with adenocarcinoma and 22 with squamous cell carcinoma were studied. These were divided into a training set and a testing set. The results indicate that DNA methylation profiling of these CpGs is associated with lung cancer. Four CpG sites, SP-A1_370, SP-A1_1080, SP-D_1170, and SP-D_1370, were hypomethylated in cancer and were significantly associated with both adenocarcinoma and squamous cell carcinoma, indicating that they have the potential to be used as biomarkers for lung cancer diagnosis and treatment. Normal lung tissues with a higher level of unmethylated SP-A1_1468 and SP-D_1170 CpG exhibited a higher level of SP-A1 and SP-D gene transcripts indicating that CpG methylation may play a role in gene expression. When the non-cancerous tissues were compared to cancerous tissues in patients with adenocarcinoma, the methylation profile results of these 46 samples (23 cancerous and 23 non-cancerous) could be clustered into 4 groups by agglomerative nesting. The percentage of tumor samples in each group was 0, 58, 91, and 100, respectively. A similar pattern was observed in squamous cell carcinoma patients. We speculate that SP-A1 and SP-D are subject to methylation/demethylation regulatory mechanisms and are involved in lung cancer pathogenesis by virtue of their function in innate host defense and/or regulation of inflammation.

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Surfactant Protein A and B Genetic Variants and Respiratory Distress Syndrome: Allele Interactions

Cited by 27 publications

References 29 publications

Surfactant protein A and surfactant protein D variation in pulmonary disease

Surfactant protein A and surfactant protein D variation in pulmonary disease

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

DNA methylation markers of surfactant proteins in lung cancer

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