Dataset Information

Association between preeclampsia and prostasin polymorphism in Pakistani females.

ABSTRACT:

Objectives

To investigate the relationship between a prostasin gene variations and the development of preeclampsia in a Pakistani female population. Methods: This was a case-control study carried out at University of Karachi, Karachi, Pakistan between May 2018 and 2019. A single nucleotide polymorphism (SNP) at rs12597511 locus was examined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses in 76 preeclamptic and 74 normotensive expecting mothers.

Results

We observed significantly increased risk of preeclampsia associated with the CC genotype of rs12597511 polymorphism as compared to TT (p less than 0.001, OR=8.08, 95% CI: 1.28-31.19) and TT/TC (p less than 0.001, OR=14.66 and 95% CI: 3.31-65.07) genotypes carriers. Calculation of the allelic distribution revealed a higher frequency of the T allele (82%) among controls; however, the C allele was more prevalent in the preeclamptic group (36%) significantly.

Conclusion

The significantly higher C allele frequency in the prostasin gene at the rs12597511 locus in the preeclamptic group indicates that the distribution of the C allele of the prostasin gene is a potential risk factor contributing to the development of preeclampsia.

SUBMITTER: Ejaz S

PROVIDER: S-EPMC7804221 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Publications

Association between preeclampsia and prostasin polymorphism in Pakistani females.

Ejaz Saima S Ali Anwar A Azim Kamran K Mahmood Atif A Khan Asif I AI Almazyad Tuline A TA Bilal Bushra B

Saudi medical journal 20201101 11

<h4>Objectives</h4>To investigate the relationship between a prostasin gene variations and the development of preeclampsia in a Pakistani female population. Methods: This was a case-control study carried out at University of Karachi, Karachi, Pakistan between May 2018 and 2019. A single nucleotide polymorphism (SNP) at rs12597511 locus was examined with polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analyses in 76 preeclamptic and 74 normotensive expecting mo ...[more]

PMID: 33130844

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Project description:BACKGROUND:To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women. METHODS:After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two groups (125 preeclamptic cases and 125 normotensive pregnant women). Demographic details and medical history were recorded, and 10?ml blood sample was obtained for DNA extraction. The tetra-primer amplification refractory mutation system (ARMS) assays were developed for assessing the variants of three preeclampsia related genes; F5, MTHFR and VEGFA. An association of six SNVs; F5:c.1601G?>?A (rs6025), F5:c.6665A?>?G (rs6027), MTHFR: c.665C?>?T (rs1801133), MTHFR: c.1286A?>?C (rs1801131), VEGFA: c.-2055A?>?C (rs699947) and VEGFA: c.*237C?>?T (rs3025039) with preeclampsia was determined by using different genetic models. RESULTS:Genotyping of the SNVs revealed that patients with MTHFR:c.665C?>?T, have increased susceptibility to preeclampsia (CT versus CC/TT: OR?=?2.79, 95% CI?=?1.18-6.59; P*?=?0.046 and CT/TT vs CC: OR?=?2.91, 95% CI?=?1.29-6.57; P*?=?0.0497, in overdominant and dominant models, respectively), whereas F5:c.6665A?>?G, (A/G vs AA/GG: OR?=?0.42, 95% CI?=?0.21-0.84; P*?=?0.038 in overdominant model) and MTHFR:c.1286A?>?C, (CC versus AA: OR?=?0.36, 95% CI?=?0.18-0.72; P*?=?0.0392 in codominant model) have significantly decreased risk for preeclampsia. F5:c.1601G?>?A, VEGFA: c.-2055A?>?C and VEGFA: c.*237C?>?T variants revealed no relationship with the disease. CONCLUSION:This is the first case control study describing the protective role of F5:c.6665A?>?G against preeclampsia in any world population. In addition, the present study confirmed the association and role of MTHFR gene variations in the development of preeclampsia in Pakistani patients. Further genetic studies may be required to better understand the complex genetic mechanism of SNVs in preeclampsia related genes in pregnant women.

Project description:BackgroundPreeclampsia is a serious pregnancy-specific syndrome with incompletely understood pathogenesis. Previous study has demonstrated that the decreased CXCR2 in preeclamptic placentas may contribute to the development of preeclampsia. The role of single nucleotide polymorphisms (SNPs) of CXCR2 gene in the pathogenesis of preeclampsia remains largely unexplored. Thus, we aimed to investigate the association between polymorphisms of CXCR2 gene and preeclampsia in Han Chinese women.MethodsTotally 481 pregnant women, including 243 controls and 238 patients with preeclampsia were recruited. The rs1126579 and rs2230054 polymorphisms in CXCR2 gene were tested using polymerase chain reaction-restriction fragment length polymorphism method.ResultsSignificantly increased risk of preeclampsia was observed in the rs1126579 CC or TC/CC genotypes when compared with TT genotype (CC vs. TT: odss ratio [OR] = 2.11, 95% confidence interval [CI] = 1.18-3.76, p = 0.039; TC/CC vs. TT: OR = 1.89, 95% CI = 1.29-2.78, p = 0.001). Markedly higher risk of preeclampsia was found to be associated with rs1126579 TC genotype (TC vs. TT/CC: OR = 1.48, 95% CI = 1.04-2.12, p = 0.031). After stratification analysis, the different distribution of TC/CC genotypes was particularly significant in the severe preeclampsia group (OR = 2.15, 95% CI = 1.42-3.24, p < 0.01), the early-onset severe preeclampsia group (OR = 1.97, 95% CI = 1.14-3.42, p = 0.013), and the late-onset severe preeclampsia group (OR = 2.29, 95% CI = 1.39-3.78, p < 0.01). Besides, TC genotype carriers had a 1.55 fold increased risk of severe preeclampsia (95% CI = 1.06-2.27, p = 0.022) and a 1.80 fold increased risk of late onset severe preeclampsia (95% CI = 1.14-2.83, p = 0.01) than those of TT/CC genotype carriers.ConclusionsOur study suggests a genetic association between rs1126579 polymorphism in CXCR2 gene and increased risk of preeclampsia. These data provide a new clue for future investigation.

Dataset Information

Association between preeclampsia and prostasin polymorphism in Pakistani females.

Objectives

Results

Conclusion

Publications

Association between preeclampsia and prostasin polymorphism in Pakistani females.

Similar Datasets

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