关键词: Endoglin Gestational hypertension Haplotype Polymorphism Preeclampsia Transforming growth factor beta 1

Mesh : Adult Blood Pressure / genetics Case-Control Studies Chi-Square Distribution Female Gene Frequency Genetic Association Studies Genetic Predisposition to Disease Haplotypes Humans Hypertension, Pregnancy-Induced / diagnosis genetics physiopathology Logistic Models Odds Ratio Phenotype Polymorphism, Single Nucleotide Pre-Eclampsia / diagnosis genetics physiopathology Pregnancy Protein Serine-Threonine Kinases / genetics Receptor, Transforming Growth Factor-beta Type I Receptor, Transforming Growth Factor-beta Type II Receptors, Transforming Growth Factor beta / genetics Risk Factors Young Adult

来  源:   DOI:10.1016/j.preghy.2017.11.010   PDF(Sci-hub)

Abstract:
OBJECTIVE: To investigate the association between transforming growth factor beta 1 related gene polymorphisms and the occurrence of pregnancy induced hypertension, including gestational hypertension and preeclampsia.
METHODS: This is a case control candidate gene association study. A total of 130 patients with preeclampsia, 67 with gestational hypertension, and 316 controls were recruited. Eleven candidate SNPs of were examined, including four TGFβ1 SNPs (rs1800469, rs4803455, rs4803457, and rs8179181), one TGFβR1 SNP (rs10739778), four TGFβR2 SNPs (rs1346907, rs3087465, rs6550005, and rs877572), and two ENG SNPs (rs10121110 and rs11792480).
METHODS: Logistic regression was used to estimate the OR and the 95% CI under different genetic models. Chi-square test was used to determine whether haplotype frequency distributions differed between the case and control groups and logistic regression was used to estimate ORs. To explore the associations between SNPs and blood pressure, SBP/DBP in different genotype groups in healthy women were compared by Wilcoxon rank sum test.
RESULTS: We did not find significant association between investigated SNPs and pregnancy induced hypertension. The C-T-A-G haplotype of four TGFβR2 SNPs (rs877572, rs1346907, rs3087465, and rs6550005) was significantly associated with preeclampsia (OR = 4.71, 95%CI: 1.944, 11.409) and gestational hypertension (OR = 3.157, 95%CI: 1.003, 9.938). The AA genotype of TGFβR1 rs10739778 was found to be associated with higher blood pressure in healthy women (p ≤ .008).
CONCLUSIONS: Polymorphisms in TGFβR2 might participate in the pathologic process of pregnancy induced hypertension, and TGFβR1 rs10739778 was associated with blood pressure in our healthy participants.
摘要:
目的:探讨转化生长因子β1相关基因多态性与妊娠高血压综合征发生的关系。包括妊娠期高血压和先兆子痫。
方法:这是一项病例对照候选基因关联研究。共有130例子痫前期患者,67患有妊娠期高血压,招募了316名对照。检查了11个候选SNP,包括四个TGFβ1SNP(rs1800469,rs4803455,rs4803457和rs8179181),一个TGFβR1SNP(rs10739778),四个TGFβR2SNP(rs1346907,rs3087465,rs6550005和rs877572),和两个ENGSNP(rs10121110和rs11792480)。
方法:采用Logistic回归估计不同遗传模型下的OR和95%CI。使用卡方检验来确定病例组和对照组之间的单倍型频率分布是否不同,并使用逻辑回归来估计OR。为了探索SNP与血压之间的关系,采用Wilcoxon秩和检验比较健康女性不同基因型组的SBP/DBP。
结果:我们没有发现所研究的SNP与妊娠高血压之间存在显著关联。4个TGFβR2SNP(rs877572、rs1346907、rs3087465和rs6550005)的C-T-A-G单倍型与子痫前期(OR=4.71,95CI:1.944,11.409)和高血压(OR=3.157,95CI:1.003,9.938)显著相关。发现TGFβR1rs10739778的AA基因型与健康女性的高血压有关(p≤.008)。
结论:TGFβR2基因多态性可能参与了妊娠期高血压疾病的病理过程。TGFβR1rs10739778与健康参与者的血压相关。
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