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南非先兆子痫人群中维生素D结合蛋白基因内的多态性

Polymorphisms within vitamin D binding protein gene within a Preeclamptic South African population.

作者信息

Naidoo Yeshnee, Moodley Jagidesa, Ramsuran Veron, Naicker Thajasvarie

机构信息

Discipline of Optics and Imaging, Women's Health and HIV Research Group , Durban , South Africa.

KZN Research Innovation and Sequencing Platform, University of KwaZulu-Natal , Durban , South Africa.

出版信息

Hypertens Pregnancy. 2019 Nov;38(4):260-267. doi: 10.1080/10641955.2019.1667383. Epub 2019 Sep 27.

Abstract

: The vitamin D binding protein encoded by the gene contains two single nucleotide polymorphisms (rs4588 and rs7041) that have been associated with disease outcome, these include periodontitis coronary heart disease and hypertension. In pregnancy, these SNPs influence vitamin D metabolism that could result in hypertensive disorders such as PE. The etiology of PE, still remains elusive. The aim of this study was to evaluate the distribution of rs4588 and rs7041 within the gene among PE and normotensive pregnant women, residing in Durban, KwaZulu-Natal, South Africa. : Our study consisted of n = 600 participants (normotensive (n = 246, N); early onset PE (n = 167, EOPE); and late-onset PE (n = 246, LOPE)). We extracted DNA from whole blood and genotyped for rs4588 and rs7041 SNPs using the TaqMan assay. : Regardless of HIV status, we observed the rs4588 (CC genotype) more frequently in PE (EOPE+LOPE) compared to the normotensive participants with an OD ratio of 0.74 (95% CI, 0.35-1.5; p < 0.001). We report a significant difference in the frequency of rs7041 (GT genotype) in the EOPE group compared to the normotensive group with an OD ratio of 11.48 (95% CI, 2.6-103.7; < 0.001). The rs7041 GT genotype had a higher frequency in the EOPE compared to the LOPE group, with an OD ratio of 15.15 (95% CI, 2.3-639.2; < 0.001). : This is the first study to describe the prevalence of SNPs of the rs4588 and rs7041 within the gene in women with PE within the high HIV endemic area of KZN, South Africa. Notably, a significant association of the rs7041 (TT genotype) and rs4588 (CC genotype) occurred at a higher frequency in PE compared to the normotensive cohort. Future studies will examine the functional effect of the region in relation to pregnancy and vitamin D deficiency.

摘要

由该基因编码的维生素D结合蛋白包含两个与疾病结局相关的单核苷酸多态性(rs4588和rs7041),这些疾病包括牙周炎、冠心病和高血压。在孕期,这些单核苷酸多态性会影响维生素D代谢,进而可能导致如子痫前期等高血压疾病。子痫前期的病因仍然不明。本研究的目的是评估居住在南非夸祖鲁 - 纳塔尔省德班的子痫前期孕妇和血压正常的孕妇中该基因内rs4588和rs7041的分布情况。:我们的研究包括n = 600名参与者(血压正常者(n = 246,N);早发型子痫前期(n = 167,EOPE);晚发型子痫前期(n = 246,LOPE))。我们从全血中提取DNA,并使用TaqMan分析对rs4588和rs7041单核苷酸多态性进行基因分型。:无论HIV感染状况如何,与血压正常的参与者相比,我们在子痫前期患者(早发型子痫前期 + 晚发型子痫前期)中更频繁地观察到rs4588(CC基因型),比值比为0.74(95%可信区间,0.35 - 1.5;p < 0.001)。我们报告早发型子痫前期组与血压正常组相比,rs7041(GT基因型)频率存在显著差异,比值比为11.48(95%可信区间,2.6 - 103.7;< 0.001)。与晚发型子痫前期组相比,rs7041 GT基因型在早发型子痫前期组中的频率更高,比值比为15.15(95%可信区间,2.3 - 639.2;< 0.001)。:这是第一项描述南非夸祖鲁 - 纳塔尔省高HIV流行地区子痫前期女性中该基因rs4588和rs7041单核苷酸多态性患病率的研究。值得注意的是,与血压正常队列相比,rs7041(TT基因型)和rs4588(CC基因型)在子痫前期患者中以更高的频率出现显著关联。未来的研究将研究该区域与妊娠和维生素D缺乏相关的功能效应。

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