A null mutation in HLA-G is not associated with preeclampsia or intrauterine growth retardation
A null mutation in HLA-G is not associated with preeclampsia or intrauterine growth retardation
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DOI：
10.1016/s0165-0378(00)00052-8
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发表时间：
2000-05-01
影响因子：
3.4
通讯作者：
Ober, C
中科院分区：
文献类型：
--
作者：
Aldrich, C;Verp, MS;Ober, C
母胎界面组织中主要组织相容性复合体(MHC)基因表达的调节几乎肯定在半异基因胎儿的成功发育中起作用。虽然经典的I类基因(HLA-A、B、C)在该部位的表达很低或根本不存在，但非经典分子HL A-G在母胎交界处的胎儿细胞中唯一表达。最近的研究表明，人类白细胞抗原G基因外显子3(1597，C)缺失突变的纯合子不表达全长的人类白细胞抗原-G1亚型，这表明杂合子中该亚型的表达可能降低。如果HLAG的全长亚型(即HLAG1)有助于绒毛外细胞滋养层细胞对母体螺旋动脉的适当侵袭，则1597个Delta C杂合子可能增加滋养层侵袭障碍的风险。对两个人群，宫内生长迟缓(IUGR)婴儿和先兆子痫(PE)母亲的婴儿进行了1597 Delta C多态的基因分型。1597Delta C在这些样本中的频率与健康对照组没有显著差异，这表明该缺失突变的杂合子没有显著增加PE或IUGR的风险(分别为P=0.727和0.803)。(C)2000爱思唯尔爱尔兰科学有限公司。保留所有权利。
Modulation of the expression of genes of the major histocompatibility complex (MHC) in tissues at the maternal-fetal interface almost certainly plays a role in successful development of the semi-allogeneic fetus. While expression of the classical class I genes (HLA -A, B, C) is low to non-existent at this site, the non-classical molecule, HLA-G, is expressed uniquely in fetal cells at the maternal-fetal interface. The recent demonstration that homozygotes for a deletion mutation in exon 3 (1597 Delta C) of HLA-G do not express the full-length HLA-G1 isoforms indicates a potential reduction in expression of this isoform in heterozygotes. If the full-length isoform of HLA-G (i.e. HLA-G1) contributes to proper invasion of maternal spiral arteries by extravillous cytotrophoblast, then 1597 Delta C heterozygotes could be at increased risk for disorders of trophoblast invasion. Two populations, infants with intrauterine growth retardation (IUGR) and infants of preeclamptic (PE) mothers, were genotyped for the 1597 Delta C polymorphism. The frequency of 1597 Delta C in these samples was not significantly different from healthy controls, suggesting that heterozygotes for this deletion mutation are not at significantly increased risk for PE or IUGR (P = 0.727 and 0.803, respectively). (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.