{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T15:27:47Z","timestamp":1772897267531,"version":"3.50.1"},"reference-count":44,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,1,12]],"date-time":"2002-01-12T00:00:00Z","timestamp":1010793600000},"content-version":"vor","delay-in-days":133,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2001,9]]},"abstract":"<jats:p>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\u2010A) and SP\u2010A alleles have been associated with RDS. Using the candidate gene approach, we performed family\u2010based linkage studies to discern linkage of SP\u2010A to RDS and identify SP\u2010A susceptibility or protective alleles. Moreover, we performed case\u2013control studies of whites and blacks to detect association between RDS and SP\u2010A alleles. Transmission disequilibrium test (TDT) analysis revealed that the frequency of transmission (from parent to the offspring with RDS) of alleles 6A<jats:sup>2<\/jats:sup> and 1A<jats:sup>0<\/jats:sup> and of 1A<jats:sup>0<\/jats:sup>\/6A<jats:sup>2<\/jats:sup> haplotype in RDS was increased, whereas transmission of alleles 1A<jats:sup>5<\/jats:sup> and 6A<jats:sup>4<\/jats:sup> and of haplotype 1A<jats:sup>5<\/jats:sup>\/6A<jats:sup>4<\/jats:sup> was decreased. Extended TDT analysis further strengthened the observations made. The case\u2013control studies showed that in whites or blacks with RDS the frequencies of specific genotypes, 1A<jats:sup>0<\/jats:sup> and 6A<jats:sup>2<\/jats:sup> or 1A<jats:sup>0<\/jats:sup>, were increased, respectively, but the frequency of specific 6A<jats:sup>3<\/jats:sup> genotypes was increased in certain white subgroups and decreased in blacks. Regression analysis revealed gestational age (GA) and 6A<jats:sup>3<\/jats:sup> genotypes are significant factors in blacks with RDS. In whites with RDS, GA and antenatal steroids are important factors. The data together indicate linkage between SP\u2010A and RDS; certain SP\u2010A alleles\/haplotypes are susceptibility (1A<jats:sup>0<\/jats:sup>, 6A<jats:sup>2<\/jats:sup>, 1A<jats:sup>0<\/jats:sup>\/6A<jats:sup>2<\/jats:sup>) or protective (1A<jats:sup>5<\/jats:sup>, 6A<jats:sup>4<\/jats:sup>, 1A<jats:sup>5<\/jats:sup>\/6A<jats:sup>4<\/jats:sup>) factors for RDS. Some differences between blacks and whites with regard to SP\u2010A alleles may exist.<\/jats:p>","DOI":"10.1034\/j.1399-0004.2001.600303.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T11:27:41Z","timestamp":1047382061000},"page":"178-187","source":"Crossref","is-referenced-by-count":46,"title":["Family\u2010based transmission disequilibrium test (TDT) and case\u2013control association studies reveal surfactant protein A (SP\u2010A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race 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