Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome

LU Wei-Cheng; XIANG Wei; WU Ming; ZHNEG Xu; LIN Jing; CHEN Xing-Yue; WEI Hai-Bo; ZHAN Duan; LI Chun-Lei

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Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (1) : 24-27.

Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome

LU Wei-Cheng, XIANG Wei, WU Ming, ZHNEG Xu, LIN Jing, CHEN Xing-Yue, WEI Hai-Bo, ZHAN Duan, LI Chun-Lei

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Abstract

OBJECTIVE: To study the relationship between pulmonary surfactant-associated protein B (SP-B) gene polymorphisms and their susceptibility to neonatal respiratory distress syndrome (RDS). METHODS: Eighty-eight preterm infants with RDS (RDS group) and 103 infants without RDS (control group) were enrolled. The genomic DNA was isolated using DNA kits. Polymerase chain reaction with restriction fragment length polymorphism technique was used to detect the genotype and allele frequency of the SP-B -18A/C and SP-B 1580C/T single nucleotide polymorphisms. The association between the polymorphisms and RDS was analyzed. RESULTS: SP-B -18A/C and SP-B 1580C/T were found to be polymorphic in both RDS and control groups. The frequencies of CC genotype (χ2=12.26，P＜0.01) and C allele (χ2=11.97, P＜0.01) of SP-B 1580C/T were significantly higher in the RDS group than in the control group. The C allele significantly increased the risk of RDS (OR=2.26, 95%CI: 1.42-3.60). The frequencies of genotype and allele of SP-B -18A/C showed no significant difference between the two groups. CONCLUSIONS: SP-B 1580C/T polymorphism contributes to the etiology of RDS and may serve as the susceptibility gene for RDS. The C allele increases the risk of RDS. SP-B -18A/C shows no association with the etiology of RDS.

Key words

Respiratory distress syndrome / Pulmonary surfactant protein B / Single nucleotide polymorphism / Newborn infant

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LU Wei-Cheng, XIANG Wei, WU Ming, ZHNEG Xu, LIN Jing, CHEN Xing-Yue, WEI Hai-Bo, ZHAN Duan, LI Chun-Lei. Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(1): 24-27

References

［1］Whitsett JA, Nogee LM, Weaver TE, Horowitz AD. Human surfactant protein B:structure,function,regulation,and genetic disease［J］.Physiol Rev, 1995, 75(4): 749-757.

［2］Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C, et al. Dinucleotide repeats in the human surfactant protein B gene and respiratory distress syndrome［J］.Biochem J, 1995, 305（Pt 2）: 583-590.

［3］Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA. Allelic heterogeneity in surfactant protein B deficiency［J］. Am J Respir Crit Care Med, 2000, 161(3 Pt 1): 973-981.

［4］金汉珍.新生儿呼吸窘迫综合征［M］//金汉珍,黄德珉，官希吉. 实用新生儿学. 第3版. 北京：人民卫生出版社,2003：421-427.

［5］Lyra PP, Vaz FA, Moreira PE, Hoffmann JW, Demello DE, Diniz EM. Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome［J］. Braz J Med Biol Res, 2007, 40(6): 779-786.

［6］Vamvakopoulos NC, Mody WS, Floros J. Mapping the human pulmonary surfactant-associated protein B gene (SFTP3) to chromosome 2p12→p11.2［J］. Cytogenet Cell Genet, 1995, 68(1-2): 8-10.

［7］Clark JC, Wert SE, Bachurski CJ, Stahlman MT, Stripp BR, Weaver TE, et al. Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice［J］. Proc Natl Acad Sci U S A, 1995, 92(17): 7794-7798.

［8］deMello DE, Phelps DS, Patel G, Floros J, Laqunoff D. Expression of the 35 kDa and low molecular weight surfactant-associated proteins in the lungs of infants dying with respiratory distress syndrome［J］. Am J Pathol,1989,134(6): 1285-1293.

［9］Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction［J］. Pediatr Dev Pathol, 2009, 12(4): 253-274.

［10］尹晓娟，罗分平，李爱华，安育林，封志纯.20例汉族新生儿呼吸窘迫综合征肺表面活性物质蛋白遗传缺陷的研究［J］. 中华儿科杂志2008，46(1)：9-12.

［11］Steagall WK, Lin JP. Moss J. The C/A (-18) polymorphism in the surfactant protein B gene influences transcription and protein levels of surfactant protein B［J］. Am J Physiol Lung Cell Mol Physiol, 2007, 292(2): L448-L453.

［12］Flores J, Thomas NJ, Liu WL, Papagaroufalis C, Xanthou M, Pereira S, et al. Family-based association tests suggest linkage between surfactant protein B (SP-B) (and flanking region) and respiratory distress syndrome (RDS): SP-B haplotypes and alleles from SP-B linked loci are risk factors for RDS［J］. Pediatr Res, 2006, 59(4 Pt 1): 612-621.

［13］Lin Z, Pearson C, Chinchilli V, Pietschmann SM, Luo J, Pison U, et al. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS［J］. Clin Genet, 2000, 58(3): 181-191.

［14］Haataja R, R-met M , Marttila R, Hallman M. Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome［J］. Human Mol Genet, 2000, 9(18): 2751-2760.

［15］Marttila R, Haataja R, R-met M, Lofgren J, Hallman M. Surfactant protein B polymorphism and respiratory distress syndrome in premature twins［J］.Hum Genet, 2003, 112(1): 18-25.