HMOX1 Genetic Polymorphisms Display Ancestral Diversity and May Be Linked to Hypertensive Disorders in Pregnancy.
HMOX1 Genetic Polymorphisms Display Ancestral Diversity and May Be Linked to Hypertensive Disorders in Pregnancy.
复制标题
DOI：
10.1007/s43032-022-01001-1
复制
发表时间：
2022-12
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
妊娠期高血压疾病（HDP）存在种族差异，导致全球不同的发病率和死亡率。血红素加氧酶-1（HO-1）由HMOX 1编码，HMOX 1在其调控区具有遗传多态性，影响其表达和活性，并与各种疾病相关。然而，对HDP中这些遗传变异的研究有限。本研究的目的是检查HMOX 1作为HDP中所见的祖先差异的潜在遗传贡献者。首先，1000个基因组计划（1 KG）第3阶段被用来比较等位基因的频率，基因型，和估计的单倍型胍胸苷重复序列（GTn;包含rs3074372）和A/T SNP（rs 2071746）的女性从五个祖先人群（非洲，美洲，欧洲，东亚和南亚，N = 1271）。然后，使用来自具有HDP病史的女性的基因组DNA，我们探索了HMOX 1变体使女性（N = 178）易患HDP的可能性，并与来自1 KG的同等祖先组（N = 263）进行了比较。两种HMOX 1变异体在不同祖先中的分布不同，非洲妇女的分布不同，并且以前与HO-1表达较低相关的变异体的总体患病率较高。这两个HMOX 1变异显示连锁不平衡，但在所有非洲组，欧元队列，LL和AA个人有较高的患病率在HDP。HMOX 1变异体表现出可能导致HDP种族差异的祖先差异。了解母体遗传对HDP的贡献将有助于改善预测并促进个性化的HDP护理方法。在线版本包含补充材料，可通过10.1007/s43032-022-01001-1获得。
Racial disparity exists for hypertensive disorders in pregnancy (HDP), which leads to disparate morbidity and mortality worldwide. The enzyme heme oxygenase-1 (HO-1) is encoded by HMOX1, which has genetic polymorphisms in its regulatory region that impact its expression and activity and have been associated with various diseases. However, studies of these genetic variants in HDP have been limited. The objective of this study was to examine HMOX1 as a potential genetic contributor of ancestral disparity seen in HDP. First, the 1000 Genomes Project (1 KG) phase 3 was utilized to compare the frequencies of alleles, genotypes, and estimated haplotypes of guanidine thymidine repeats (GTn; containing rs3074372) and A/T SNP (rs2071746) among females from five ancestral populations (Africa, the Americas, Europe, East Asia, and South Asia, N = 1271). Then, using genomic DNA from women with a history of HDP, we explored the possibility of HMOX1 variants predisposing women to HDP (N = 178) compared with an equivalent ancestral group from 1 KG (N = 263). Both HMOX1 variants were distributed differently across ancestries, with African women having a distinct distribution and an overall higher prevalence of the variants previously associated with lower HO-1 expression. The two HMOX1 variants display linkage disequilibrium in all but the African group, and within EUR cohort, LL and AA individuals have a higher prevalence in HDP. HMOX1 variants demonstrate ancestral differences that may contribute to racial disparity in HDP. Understanding maternal genetic contribution to HDP will help improve prediction and facilitate personalized approaches to care for HDP. The online version contains supplementary material available at 10.1007/s43032-022-01001-1.
登录
查看更多内容
影响因子：
9.8
作者：
Baum, M;Schiff, E;Seidman, DS
通讯作者：
Seidman, DS
影响因子：
8.3
作者：
Kaartokallio, Tea;Utge, Siddheshwar;Laivuori, Hannele
通讯作者：
Laivuori, Hannele
影响因子：
5.7
作者：
Ahmed, A;Rahman, M;St John, J
通讯作者：
St John, J
DOI：
10.1016/j.preghy.2018.02.005
发表时间：
2018-10-01
影响因子：
2.2
作者：
Anderson, Ulrik Dolberg;Jalmby, Maya;Hansson, Stefan R.
通讯作者：
Hansson, Stefan R.
DOI：
10.1002/bdra.23343
发表时间：
2015-09-01
影响因子：
--
作者：
Fujioka, Kazumichi;Yang, Wei;Shaw, Gary M.
通讯作者：
Shaw, Gary M.