Human SFTPD ELISA Matched Antibody Pair

Background: Cystic fibrosis (CF) affects the lungs causing infections and inflammation. Surfactant protein D (SP-D) is an innate defense lectin primarily secreted in the lungs. We investigated the influence of the SP-D Met11Thr polymorphism on CF lung function; and serum SP-D as a marker for CF lung disease. Methods: For 107 CF patients (73 children, and 34 adults) serum SP-D and SP-D Met11Thr genotype were available. Leukocyte count was obtained for a subset of patients. Lung function was measured as forced expiratory volume in one second (FEV-1). Results: Serum SP-D was increased in CF patients compared to healthy controls, positively correlated to leukocyte count, and negatively conelated to FEV-1. We found no correlation between SP-D Met11Thr genotype and FEV-1, and we found corresponding genotype frequencies in CF patients and in healthy controls. Conclusion: Serum SP-D in CF patients was increased in parallel with leukocyte count and with reduced FEV-1 and may constitute an alternative biomarker for lung disease, in the clinical setting and in research. (C) 2010 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

Humans living at high altitude (>= 2,500 meters above sea level) have acquired unique abilities to survive the associated extreme environmental conditions, including hypoxia, cold temperature, limited food availability and high levels of free radicals and oxidants. Longterm inhabitants of the most elevated regions of the world have undergone extensive physiological and/or genetic changes, particularly in the regulation of respiration and circulation, when compared to lowland populations. Genome scans have identified candidate genes involved in altitude adaption in the Tibetan Plateau and the Ethiopian highlands, in contrast to populations from the Andes, which have not been as intensively investigated. In the present study, we focused on three indigenous populations from Bolivia: two groups of Andean natives, Aymara and Quechua, and the low-altitude control group of Guarani from the Gran Chaco lowlands. Using pooled samples, we identified a number of SNPs exhibiting large allele frequency differences over 900,000 genotyped SNPs. A region in chromosome 10 (within the cytogenetic bands q22.3 and q23.1) was significantly differentiated between highland and lowland groups. We resequenced similar to 1.5 Mb surrounding the candidate region and identified strong signals of positive selection in the highland populations. A composite of multiple signals like test localized the signal to FAM213A and a related enhancer; the product of this gene acts as an antioxidant to lower oxidative stress and may help to maintain bone mass. The results suggest that positive selection on the enhancer might increase the expression of this antioxidant, and thereby prevent oxidative damage. In addition, the most significant signal in a relative extended haplotype homozygosity analysis was localized to the SFTPD gene, which encodes a surfactant pulmonary-associated protein involved in normal respiration and innate host defense. Our study thus identifies two novel candidate genes and associated pathways that may be involved in high-altitude adaptation in Andean populations.