Gibson Catherine S, MacLennan Alastair H, Goldwater Paul N, Haan Eric A, Priest Kevin, Dekker Gustaaf A
Department of Obstetrics and Gynaecology, The University of Adelaide, Adelaide, South Australia.
Am J Obstet Gynecol. 2006 Mar;194(3):674.e1-11. doi: 10.1016/j.ajog.2006.01.093.
The purpose of this study was to investigate associations between inherited cytokine polymorphisms and cerebral palsy.
This was a case-control study that used DNA from the newborn infant screening cards of 443 white infants with cerebral palsy and 883 white control infants to test for the following cytokine polymorphisms: tumor necrosis factor-alpha-308, mannose-binding lectin-221, and 3 polymorphisms in exon-1 of the mannose-binding lectin gene at codon-52, -54, and -57.
At all gestational ages mannose-binding lectin codon-54 increased the risk of the development of diplegia (homozygous or heterozygous odds ratio, 1.55; 95% CI, 1.03-2.32). For babies who were born at term, the risk of the development of quadriplegia was associated with heterozygous tumor necrosis factor-alpha (odds ratio, 1.82; 95% CI, 1.04-3.15), and mannose-binding lectin codon-54 was associated with diplegia (homozygous or heterozygous odds ratio, 2.12; 95% CI, 1.10-4.05). The presence of any polymorphism in mannose-binding lectin exon-1 at term approximately doubled the risk of the development of diplegia (odds ratio, 1.94; 95% CI, 1.05-3.62). Homozygous or heterozygous tumor necrosis factor-alpha was associated with hemiplegia for babies who were born at <32 weeks of gestation (odds ratio, 2.38; 95% CI, 1.02-5.58). Overall, the presence of any cytokine polymorphism was associated with cerebral palsy (odds ratio, 1.37; 95% CI, 1.02-1.84).
Carriage of polymorphisms in the tumor necrosis factor-alpha and mannose-binding lectin genes are associated with an increased risk of cerebral palsy.
本研究旨在调查遗传性细胞因子多态性与脑瘫之间的关联。
这是一项病例对照研究，使用443例患脑瘫的白人婴儿和883例白人对照婴儿新生儿筛查卡上的DNA，检测以下细胞因子多态性：肿瘤坏死因子-α -308、甘露糖结合凝集素-221以及甘露糖结合凝集素基因外显子1中密码子52、54和57处的3种多态性。
在所有孕周，甘露糖结合凝集素密码子54增加了双瘫发生的风险（纯合或杂合优势比，1.55；95%可信区间，1.03 - 2.32）。对于足月出生的婴儿，四肢瘫发生的风险与肿瘤坏死因子-α杂合子相关（优势比，1.82；95%可信区间，1.04 - 3.15），甘露糖结合凝集素密码子54与双瘫相关（纯合或杂合优势比，2.12；95%可信区间，1.10 - 4.05）。足月时甘露糖结合凝集素外显子1中存在任何多态性使双瘫发生风险增加近一倍（优势比，1.94；95%可信区间，1.05 - 3.62）。对于孕周<32周出生的婴儿，肿瘤坏死因子-α纯合或杂合子与偏瘫相关（优势比，2.38；95%可信区间，1.02 - 5.58）。总体而言，存在任何细胞因子多态性均与脑瘫相关（优势比，1.37；95%可信区间，1.02 - 1.84）。
肿瘤坏死因子-α和甘露糖结合凝集素基因多态性携带者患脑瘫的风险增加。
