BACKGROUND: Surfactant protein A (SP-A) polymorphisms are associated with susceptibility to respiratory distress syndrome (RDS). According to present hypothesis the association between SP-A polymorphisms and RDS may not be applicable to the entire population of premature infants. AIM: The present study was designed to evaluate the associations between SP-A allelic variants and RDS in a population consisting of 198 premature twin pairs. METHOD: Genotype analysis of the SP-A1 and SP-A2 genes and twin zygosity definition were carried out. RESULTS: The main SP-A1 allele 6A2 (P = 0.030), genotype 6A2/6A2 (P = 0.0042) and haplotype 6A2-1A(0) (P = 0.016) were over-represented in healthy premature twin infants compared to RDS twins. The homozygous genotype 6A2/6A2 was over-represented in twin pairs of whom both were healthy compared to twins concordant for RDS (odds ratio 0.18, confidence intervals 0.06-0.6, P = 0.0016) and born between 32 and 36 weeks. 6A2/6A2 was also overrepresented in healthy twin pairs with birth weight sum higher than the median (OR 0.15, CI 0.04-0.6, P = 0.0025). CONCLUSIONS: In twins, the association between SP-A polymorphism and RDS is different from that seen in premature singleton infants. The factor associated with SP-A genotype-specific susceptibility to RDS appears to be related to the size of uterus and the length of gestation at birth.
BACKGROUND:Surfactant protein A (SP-A) polymorphisms are associated with susceptibility to respiratory distress syndrome (RDS). According to present hypothesis the association between SP-A polymorphisms and RDS may not be applicable to the entire population of premature infants. AIM: The present study was designed to evaluate the associations between SP-A allelic variants and RDS in a population consisting of 198 premature twin pairs. METHOD: Genotype analysis of the SP-A1 and SP-A2 genes and twin zygosity definition were carried out. RESULTS: The main SP-A1 allele 6A2 (P = 0.030), genotype 6A2/6A2 (P = 0.0042) and haplotype 6A2-1A(0) (P = 0.016) were over-represented in healthy premature twin infants compared to RDS twins. The homozygous genotype 6A2/6A2 was over-represented in twin pairs of whom both were healthy compared to twins concordant for RDS (odds ratio 0.18, confidence intervals 0.06-0.6, P = 0.0016) and born between 32 and 36 weeks. 6A2/6A2 was also overrepresented in healthy twin pairs with birth weight sum higher than the median (OR 0.15, CI 0.04-0.6, P = 0.0025). CONCLUSIONS: In twins, the association between SP-A polymorphism and RDS is different from that seen in premature singleton infants. The factor associated with SP-A genotype-specific susceptibility to RDS appears to be related to the size of uterus and the length of gestation at birth.
Authors: S Malik; C M T Greenwood; T Eguale; A Kifle; J Beyene; A Habte; A Tadesse; H Gebrexabher; S Britton; E Schurr Journal: Hum Genet Date: 2005-11-15 Impact factor: 4.132
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Authors: Melinda M Pettigrew; Janneane F Gent; Yong Zhu; Elizabeth W Triche; Kathleen D Belanger; Theodore R Holford; Michael B Bracken; Brian P Leaderer Journal: BMC Med Genet Date: 2007-04-02 Impact factor: 2.103