<italic>HLA</italic>-<italic>DRB1</italic>基因多态性与早发型重度子痫前期遗传易感性的研究

doi:10.7499/j.issn.1008-8830.2303100

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摘要目的探讨HLA-DRB1基因rs3135388、rs114293611和rs142804168位点的单核苷酸多态性（single nucleotide polymorphism, SNP）与早发型重度子痫前期（severe preeclampsia, sPE）的相关性。方法收集102例早发型sPE产妇及其新生儿（sPE组）和120例血压正常产妇及其新生儿（对照组）的血液标本进行Sanger测序，比较两组产妇及新生儿HLA-DRB1基因rs3135388、rs114293611和rs142804168位点基因型分布和等位基因频率及母婴配伍后基因型分布的差异。结果 HLA-DRB1基因rs114293611位点的基因型分布在sPE组和对照组产妇及新生儿之间差异均有统计学意义（P<0.05）。sPE组新生儿rs114293611位点T等位基因频率高于对照组，差异有统计学意义（P<0.05），而在两组产妇间差异无统计学意义（P>0.05）。rs114293611位点基因型母婴配伍后显示sPE组和对照组在基因型分布上差异有统计学意义（P<0.05）。HLA-DRB1基因rs3135388和rs142804168位点的基因型分布和等位基因频率在两组产妇及新生儿之间差异均无统计学意义（P>0.05）。结论 HLA-DRB1基因rs114293611位点SNP可能与产妇早发型sPE的发生相关。HLA-DRB1基因rs114293611位点母婴基因型配伍异常可能是产妇患早发型sPE的易感因素。

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	赖春池
	张璐璐
	孙梦雅
	孙俊芳
	姜红

关键词 ：子痫前期, HLA-DRB1基因, 单核苷酸多态性, 产妇, 新生儿

Abstract：Objective To explore the correlation between the single nucleotide polymorphisms (SNP) of rs3135388, rs114293611 and rs142804168 of HLA-DRB1 gene and early-onset severe preeclampsia (sPE). Methods Blood samples were collected from 102 early-onset sPE mothers and their neonates (sPE group), as well as 120 normotensive mothers and their neonates (control group). Sanger sequencing was performed to compare the genotype distribution, allele frequencies, and differences in genotype distribution after maternal-infant compatibility between the two groups. Results Statistically significant differences in genotype distribution at rs114293611 of HLA-DRB1 gene were observed between sPE and control groups in both mothers and neonates (P<0.05). The frequency of the T allele at rs114293611 was higher in the sPE group of neonates than that in the control group (P<0.05), while no significant difference was found between the two groups of mothers (P>0.05). The maternal-infant genotype compatibility analysis showed significant differences in genotype distribution between sPE and control groups (P<0.05). There were no significant differences in genotype distribution and allele frequencies at rs3135388 and rs142804168 of HLA-DRB1 gene between the two groups of mothers and neonates (P>0.05). Conclusions The SNP at rs114293611 of HLA-DRB1 gene may be associated with the development of early-onset sPE in mothers. Maternal-infant genotype compatibility abnormality at rs114293611 of HLA-DRB1 gene may be a predisposition factor for the development of sPE.

Key words： Preeclampsia HLA-DRB1 gene Single nucleotide polymorphism Pregnant women Neonate

收稿日期: 2023-03-22

通讯作者: 姜红，女，教授。Email：jianghongbs@163.com。 E-mail: jianghongbs@163.com

作者简介: 赖春池，女，硕士研究生；

引用本文:

赖春池,张璐璐,孙梦雅等. HLA-DRB1基因多态性与早发型重度子痫前期遗传易感性的研究[J]. 中国当代儿科杂志, 2023, 25(10): 1022-1027.

LAI Chun-Chi,ZHANG Lu-Lu,SUN Meng-Ya et al. Association between HLA-DRB1 gene polymorphisms and genetic susceptibility of early-onset severe preeclampsia[J]. CJCP, 2023, 25(10): 1022-1027.

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