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斯洛伐克和罗姆(吉普赛)人群中血栓形成倾向多态性与产科并发症关联的种族差异。

Ethnic differences in the association of thrombophilic polymorphisms with obstetric complications in Slovak and Roma (Gypsy) populations.

作者信息

Bozikova Alexandra, Gabrikova Dana, Pitonak Jozef, Bernasovska Jarmila, Macekova Sona, Lohajova-Behulova Regina

机构信息

1 Department of Biology, Faculty of Humanities and Natural Sciences, Presov University , Presov, Slovakia .

出版信息

Genet Test Mol Biomarkers. 2015 Feb;19(2):98-102. doi: 10.1089/gtmb.2014.0232. Epub 2014 Dec 30.

Abstract

AIMS

Hereditary as well as acquired thrombophilia is associated with a higher incidence of severe obstetric complications such as preeclampsia, spontaneous pregnancy loss, placental abruption, and fetal growth retardation. The aim of our study was to examine the association of selected thrombophilic polymorphisms (factor V Leiden, MTHFR C677T, and MTHFR A1298C) with pregnancy complications in the Slovak majority population and the Roma (Gypsy) ethnic population. The study included 354 women; 120 patients and 105 controls from the Slovak majority population, 50 patients and 79 controls from the Slovak Roma population. Genotyping was performed by the real-time polymerase chain reaction method using TaqMan(®) MGB probes.

RESULTS

A statistically significant higher frequency of factor V Leiden (p=0.001, odds ratio [OR]=5.9) and MTHFR C677T polymorphism (p=0.011, OR=1.7) was observed in the Slovak majority patient group compared to the control group. The incidence of MTHFR A1298C polymorphism between patients and controls did not differ significantly. None of the three polymorphisms studied was in association with pregnancy complications in the group of Roma women.

CONCLUSIONS

Our study has confirmed the variable distribution of selected thrombophilic polymorphisms in different ethnic groups as well as their various effects on the clinical phenotype.

摘要

目的

遗传性及获得性血栓形成倾向与子痫前期、自然流产、胎盘早剥及胎儿生长受限等严重产科并发症的较高发生率相关。我们研究的目的是检测特定血栓形成倾向多态性(凝血因子V莱顿突变、亚甲基四氢叶酸还原酶C677T突变和亚甲基四氢叶酸还原酶A1298C突变)与斯洛伐克主要民族人群及罗姆(吉卜赛)族人群妊娠并发症之间的关联。该研究纳入了354名女性;斯洛伐克主要民族人群中有120例患者和105例对照,斯洛伐克罗姆族人群中有50例患者和79例对照。采用TaqMan® MGB探针通过实时聚合酶链反应法进行基因分型。

结果

与对照组相比,斯洛伐克主要民族患者组中凝血因子V莱顿突变(p = 0.001,优势比[OR]=5.9)和亚甲基四氢叶酸还原酶C677T多态性(p = 0.011,OR = 1.7)的频率在统计学上显著更高。患者与对照之间亚甲基四氢叶酸还原酶A1298C多态性的发生率无显著差异。在所研究的三种多态性中,没有一种与罗姆族女性组中的妊娠并发症相关。

结论

我们的研究证实了特定血栓形成倾向多态性在不同种族群体中的分布差异及其对临床表型的不同影响。

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本文引用的文献

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Hereditary thrombophilic risk factors for recurrent pregnancy loss.复发性流产的遗传性血栓形成倾向风险因素。
J Community Genet. 2010 Jun;1(2):47-53. doi: 10.1007/s12687-010-0011-3. Epub 2010 Jun 11.
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Pregnancy loss and thrombophilia: the elusive link.妊娠丢失与血栓形成倾向:难以捉摸的联系。
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