The Haplotype TGGAG in the ABCA3 Gene Increases the Risk of Respiratory Distress Syndrome in Preterm XXXX in Southern China.

@entity1 @entity71909 @entity71911 @entity71912 @entity649 @entity26 @entity2107 @entity71908 @entity71910 @entity855
BACKGROUND: Rare mutations in the @entity855 -binding cassette (ABC) transporter A3 (ABCA3) gene are associated with neonatal @entity649 ( @entity649 ). The contribution of common single nucleotide polymorphisms (SNPs) to preterm @entity649 differs between ethnicities and remains unclear in Chinese @entity1 . This study evaluated whether common SNPs and consequent haplotypes increase susceptibility to @entity649 in a population of preterm @entity1 from the Guangxi Zhuang Autonomous Region of China. METHODS: Using a tagging SNP (tSNP) strategy and real-time polymerase chain reaction, we genotyped four tSNPs (i.e., @entity71908 , @entity71909 , @entity71910 , and @entity71911 ) and one coding SNP ( @entity71912 ) of the ABCA3 gene in preterm @entity1 with @entity649 (n  =  83) and without @entity649 (n  =  83). We predicted the haplotypes. Minor allele frequencies (MAFs) and haplotype distributions were compared between the two groups. We analyzed correlations between the clinical data and the genotypes. RESULTS: Seven haplotypes existed at a frequency of 0.01 or greater. The haplotype TGGAG was significantly more frequent in @entity649 @entity1 than in non- @entity649 @entity1 (p  =  0.026; odds ratio 3.41; 95% confidence interval 1.088-10.685). The MAF of @entity71911 SNP, a crucial SNP of the haplotype TGGAG located in the transcription factor binding site of ABCA3, was significantly higher in @entity649 @entity1 (p  <  0.05); however, the Bonferroni correction test showed no significant difference (p  >  0.05). No significant correlation existed between the @entity71911 genotypes (AG/GG) and any clinical characteristic (e.g., @entity26 supplementation duration and hospitalization, requirement for ventilation, @entity2107 , and mortality rate). CONCLUSION: The TGGAG haplotype may be a risk factor for @entity649 in preterm @entity1 in this Chinese population. Further study is needed with a larger sample size to verify the association between the @entity71911 SNP and increased risk of @entity649 in preterm @entity1 , and to determine whether @entity71911 can be a reference in further population-based studies of ABCA3.
