Pettigrew Melinda M, Gent Janneane F, Zhu Yong, Triche Elizabeth W, Belanger Kathleen D, Holford Theodore R, Bracken Michael B, Leaderer Brian P
Yale Center for Perinatal, Pediatric and Environmental Epidemiology, Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT, USA.
BMC Med Genet. 2007 Apr 2;8:15. doi: 10.1186/1471-2350-8-15.
We examined the association between single nucleotide polymorphisms (SNPs) in loci encoding surfactant protein A (SFTPA) and risk of wheeze and persistent cough during the first year of life among a cohort of infants at risk for developing asthma.
Between September 1996 and December 1998, mothers of newborn infants were invited to participate if they had an older child with clinician-diagnosed asthma. Each mother was given a standardized questionnaire within 4 months of her infant's birth. Infant respiratory symptoms were collected during quarterly telephone interviews at 6, 9 and 12 months of age. Due to the association of SFTPA polymorphisms and race/ethnicity, analyses were restricted to 221 white infants for whom whole blood and respiratory data were available. Ordered logistic regression models were used to examine the association between respiratory symptom frequency and SFTPA haplotypes.
The 6A allele haplotype of SFTPA1, with an estimated frequency of 6% among our study infants, was associated with an increased risk of persistent cough (OR 3.69, 95% CI 1.71, 7.98) and wheeze (OR 4.72, 95% CI 2.20, 10.11). The 6A/1A haplotype of SFTPA, found among approximately 5% of the infants, was associated with an increased risk of persistent cough (OR 3.20, 95% CI 1.39, 7.36) and wheeze (OR 3.25, 95% CI 1.43, 7.37).
Polymorphisms within SFTPA loci may be associated with wheeze and persistent cough in white infants at risk for asthma. These associations require replication and exploration in other ethnic/racial groups.
我们研究了编码表面活性蛋白A(SFTPA)的基因座中的单核苷酸多态性(SNP)与一组有哮喘发病风险的婴儿在出生后第一年出现喘息和持续性咳嗽风险之间的关联。
在1996年9月至1998年12月期间,如果新生婴儿的母亲有一个经临床医生诊断为哮喘的较大孩子,就邀请其参与研究。每位母亲在其婴儿出生后4个月内会收到一份标准化问卷。在婴儿6个月、9个月和12个月大时,通过季度电话访谈收集婴儿的呼吸道症状。由于SFTPA多态性与种族/民族有关,分析仅限于221名有全血和呼吸道数据的白人婴儿。使用有序逻辑回归模型来研究呼吸道症状频率与SFTPA单倍型之间的关联。
SFTPA1的6A等位基因单倍型在我们的研究婴儿中估计频率为6%,与持续性咳嗽风险增加(OR 3.69,95%CI 1.71,7.98)和喘息风险增加(OR 4.72,95%CI 2.20,10.11)相关。SFTPA的6A/1A单倍型在约5%的婴儿中被发现,与持续性咳嗽风险增加(OR 3.20,95%CI 1.39,7.36)和喘息风险增加(OR 3.25,95%CI 1.43,7.37)相关。
SFTPA基因座内的多态性可能与有哮喘风险的白人婴儿的喘息和持续性咳嗽有关。这些关联需要在其他种族/民族群体中进行重复和探索。