Kilpatrick D C
Academic Unit, Department of Transfusion Medicine, Edinburgh, Scotland, UK.
Hum Reprod Update. 1999 Mar-Apr;5(2):94-102. doi: 10.1093/humupd/5.2.94.
Pre-eclampsia is a syndrome with a strong familial component. Autosomal recessive inheritance acting only in the mother is not consistent with the epidemiological data, and a more complex genetic susceptibility, involving interactions between maternal and fetal genomes, seems likely. The human leukocyte antigen (HLA) system has been implicated, but many of the findings reported have been inconsistent or contradictory. Pre-eclampsia is unlikely to be the simple result of excessive HLA-class II antigen sharing between mother and fetus, as was first thought, but a more complex mechanism involving feto-maternal compatibility cannot be excluded. The reported increase in HLA-DR4 in mothers and babies from pre-eclamptic pregnancies has not been independently confirmed for mothers, and no further studies have been conducted with babies. Consequently, the allegedly stronger relationship with HLA-DR4 sharing between mother and fetus has neither been confirmed nor refuted. Certain (B44-DR7)-containing haplotypes appear to confer increased risk for pre-eclampsia on the basis of independent analyses of American and Scottish populations. HLA-DR53 may be associated with the antiphospholipid antibody syndrome, which is itself a strong risk factor for pre-eclampsia. The tumour necrosis factor (TNF)-alpha allele, TNF1, may be associated with pre-eclampsia and certainly elevated concentrations of the cytokine appear to be a feature of the disease. The inducibility of TNF-alpha is HLA-class II-dependent, and the relevance of HLA-class II genes might be entirely in relation to TNF-alpha synthesis and secretion.
子痫前期是一种具有强烈家族性因素的综合征。仅在母亲中起作用的常染色体隐性遗传与流行病学数据不符，一种更复杂的遗传易感性，涉及母体和胎儿基因组之间的相互作用，似乎是可能的。人类白细胞抗原（HLA）系统与之相关，但所报道的许多发现并不一致或相互矛盾。子痫前期不太可能是如最初所认为的那样，是母亲和胎儿之间过度共享HLA - II类抗原的简单结果，但涉及母胎相容性的更复杂机制也不能排除。子痫前期妊娠的母亲和婴儿中HLA - DR4增加的报道，对于母亲而言尚未得到独立证实，并且没有对婴儿进行进一步研究。因此，所谓母亲和胎儿之间与HLA - DR4共享更强的关系既未得到证实也未被反驳。根据对美国和苏格兰人群的独立分析，某些含有（B44 - DR7）的单倍型似乎会增加子痫前期的风险。HLA - DR53可能与抗磷脂抗体综合征有关，而抗磷脂抗体综合征本身就是子痫前期的一个强大风险因素。肿瘤坏死因子（TNF） - α等位基因TNF1可能与子痫前期有关，并且细胞因子浓度升高肯定是该疾病的一个特征。TNF - α的诱导性是HLA - II类依赖性的，HLA - II类基因的相关性可能完全与TNF - α的合成和分泌有关。
