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人类孕激素受体基因中的单核苷酸多态性与自发性早产

Single nucleotide polymorphisms in the human progesterone receptor gene and spontaneous preterm birth.

作者信息

Morgan Thomas, Bahtiyar Mert O, Snegovskikh Victoria V, Schatz Frederick, Kuczynski Edward, Funai Edmund F, Dulay Antonette T, Huang Se-Te Joseph, Buhimschi Catalin S, Buhimschi Irina A, Fortunato Stephen J, Menon Ramkumar, Lockwood Charles J, Norwitz Errol R

机构信息

Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut, USA.

出版信息

Reprod Sci. 2008 Feb;15(2):147-55. doi: 10.1177/1933719107310990.

DOI:10.1177/1933719107310990
PMID:18276950
Abstract

Progesterone supplementation can prevent preterm birth in some high-risk women. Progesterone binds to progesterone receptor (PR) and modulates the expression of target genes. This study investigates the association between single nucleotide polymorphisms (SNPs) in the PR gene and spontaneous preterm birth. DNA was extracted from consecutive patients with preterm birth (n = 78) and term controls (n = 415), and genotyping was performed for 3 PR SNPs (+331[G>A], + 770[C>T], +660[G>T]) using Sequenom matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Data were analyzed by chi(2) test and logistic regression analysis. Multivariate analysis showed no association between maternal carriage of minor + 331T, +770T, and/or +660T alleles and preterm birth when controlled for maternal age, ethnicity, gravidity, parity, prior preterm birth, route of delivery, or neonatal outcome. Carriage of +770T and +660T (but not +331T) was associated with preterm birth in women with a body mass index <18.5 kg/m(2) (relative risk, 10.8; 95% confidence interval, 1.4-82.6; P = .02). Maternal carriage of minor alleles of +331(G>A), +770(C>T), and +660(G> T) SNPs in the PR gene is not associated with spontaneous preterm birth.

摘要

补充孕酮可预防部分高危女性早产。孕酮与孕酮受体(PR)结合并调节靶基因的表达。本研究调查PR基因单核苷酸多态性(SNP)与自发性早产之间的关联。从连续的早产患者(n = 78)和足月对照者(n = 415)中提取DNA,并使用Sequenom基质辅助激光解吸/电离飞行时间质谱法对3个PR SNP(+331[G>A]、+770[C>T]、+660[G>T])进行基因分型。通过卡方检验和逻辑回归分析对数据进行分析。多因素分析显示,在控制产妇年龄、种族、妊娠次数、产次、既往早产史、分娩方式或新生儿结局后,产妇携带次要的+331T、+770T和/或+660T等位基因与早产无关联。在体重指数<18.5 kg/m²的女性中,携带+770T和+660T(而非+331T)与早产相关(相对风险为10.8;95%置信区间为1.4 - 82.6;P = 0.02)。PR基因中+331(G>A)、+770(C>T)和+660(G>T)SNP的次要等位基因的产妇携带情况与自发性早产无关。

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Int J Mol Sci. 2025 Feb 13;26(4):1606. doi: 10.3390/ijms26041606.
2
The association among cytochrome P450 3A, progesterone receptor polymorphisms, plasma 17-alpha hydroxyprogesterone caproate concentrations, and spontaneous preterm birth.细胞色素P450 3A、孕激素受体多态性、血浆己酸17-α羟孕酮浓度与自发性早产之间的关联。
Am J Obstet Gynecol. 2017 Sep;217(3):369.e1-369.e9. doi: 10.1016/j.ajog.2017.05.019. Epub 2017 May 15.
3
Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update.
自发性早产与单核苷酸基因多态性:最新进展
BMC Genomics. 2016 Oct 17;17(Suppl 9):759. doi: 10.1186/s12864-016-3089-0.
4
What we have learned about the role of 17-alpha-hydroxyprogesterone caproate in the prevention of preterm birth.我们所了解的己酸17-α-羟孕酮在预防早产中的作用。
Semin Perinatol. 2016 Aug;40(5):273-80. doi: 10.1053/j.semperi.2016.03.002. Epub 2016 Apr 19.
5
Genomics of preterm birth.早产的基因组学
Cold Spring Harb Perspect Med. 2015 Feb 2;5(2):a023127. doi: 10.1101/cshperspect.a023127.
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Prevention of preterm delivery with 17-hydroxyprogesterone caproate: pharmacologic considerations.己酸17-羟孕酮预防早产:药理学考量
Semin Perinatol. 2014 Dec;38(8):516-22. doi: 10.1053/j.semperi.2014.08.013. Epub 2014 Sep 23.
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California Very Preterm Birth Study: design and characteristics of the population- and biospecimen bank-based nested case-control study.加利福尼亚早产研究:基于人群和生物样本库的巢式病例对照研究的设计和特征。
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