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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
SLC19A1 Gene Polymorphism; Risk Factor for Preeclampsia
Iram Nasir1, Amena Rahim1, Muhammad Afzal1
1Department of Biochemistry, Islamic International Medical College, Riphah International University, Rawalpindi, Pakistan.
Objective:
To determine the genotypic and allelic frequency of SLC19A1 (rs1051296 G>T) polymorphism in pre-eclamptic patients and normal pregnant females, and also the genetic association of SLC19A1 (rs1051296 G>T) polymorphisms with the levels of homocysteine (Hcy) and folate in pre-eclamptic Pakistani population.
Study Design:
A case-control study. Place and Duration of the Study: Department of Biochemistry, Islamic International Medical College, Riphah International University, Rawalpindi, Pakistan, from September 2022 to 2023.
Methodology:
Gene association of SLC19A1 (rs1051296 G>T) polymorphism was studied in pre-eclamptic patients to elucidate its clinical significance. The study included 166 pre-eclamptic patients and 166 normotensive pregnant females as controls. Maternal venous blood samples were obtained between 20th and 40th weeks of gestation and DNA was extracted using the Chelex method. Allele-specific polymerase chain reaction (PCR) was used to analyse the SLC19A1 (rs1051296 G>T) polymorphism. Data were analysed using the Chi-square and Student's t-test.
Results:
A significant association in terms of susceptibility was found between SLC19A1 (rs1051296 G>T), CA (p <0.03), and AA (p <0.001) genotype with preeclampsia (PE). A significant association in terms of protection was found between the SLC19A1 (rs1051296 G>T) CC genotype and PE. Notably, low folic acid along with CA (p <0.05) genotype is a high-risk factor for PE. A prior family history of high blood pressure had not proved any significant association with SLC19A1 (rs1051296 G>T, p <0.6).
Conclusion:
SLC19A1 (rs1051296 G>T) polymorphism is a risk factor for PE in the Pakistani population.
Key Words:
Preeclampsia, Blood pressure, Single nucleotide polymorphism, SLC19A1, Polymerase chain reaction.
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