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Family-based transmission disequilibrium test (TDT) and case–control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences by J Floros; R Fan; A Matthews; S DiAngelo; J Luo; H Nielsen; M Dunn; I H Gewolb; J Koppe; L Van Sonderen; L Farri-Kostopoulos; M Tzaki; M Rämet; J Merrill is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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A key cause of respiratory distress syndrome (RDS) in the prematurely born infant is deficiency of pulmonary surfactant, a lipoprotein complex. Both low levels of surfactant protein A (SP‐A) and SP‐A alleles have been associated with RDS. Using the candidate gene approach, we performed family‐based linkage studies to discern linkage of SP‐A to RDS and identify SP‐A susceptibility or protective alleles. Moreover, we performed case–control studies of whites and blacks to detect association between RDS and SP‐A alleles. Transmission disequilibrium test (TDT) analysis revealed that the frequency of transmission (from parent to the offspring with RDS) of alleles 6A^2^ and 1A^0^ and of 1A^0^/6A^2^ haplotype in RDS was increased, whereas transmission of alleles 1A^5^ and 6A^4^ and of haplotype 1A^5^/6A^4^ was decreased. Extended TDT analysis further strengthened the observations made. The case–control studies showed that in whites or blacks with RDS the frequencies of specific genotypes, 1A^0^ and 6A^2^ or 1A^0^, were increased, respectively, but the frequency of specific 6A^3^ genotypes was increased in certain white subgroups and decreased in blacks. Regression analysis revealed gestati

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Author

J Floros; R Fan; A Matthews; S DiAngelo; J Luo; H Nielsen; M Dunn; I H Gewolb; J Koppe; L Van Sonderen; L Farri-Kostopoulos; M Tzaki; M Rämet; J Merrill

Publisher

John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0009-9163)

Published

2002

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)