Genetic contribution between APE1 variants in polycystic ovarian syndrome
Introduction: Polycystic Ovarian Syndrome (PCOS) has been identified as a gynecological, hormonal, and metabolic condition in women of reproductive age. Genetic studies can contribute to understand the pathogenesis of PCOS; which can be beneficial in early diagnosis and long-term management of the d...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-03-01
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| Series: | Saudi Journal of Biological Sciences |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1319562X23000086 |
| _version_ | 1811157876510556160 |
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| author | Johara Al-Mutawa |
| author_facet | Johara Al-Mutawa |
| author_sort | Johara Al-Mutawa |
| collection | DOAJ |
| description | Introduction: Polycystic Ovarian Syndrome (PCOS) has been identified as a gynecological, hormonal, and metabolic condition in women of reproductive age. Genetic studies can contribute to understand the pathogenesis of PCOS; which can be beneficial in early diagnosis and long-term management of the disease. Apurinic/apyrimidinic endonuclease 1 (APE1) has been related in the literature to polycystic ovarian syndrome. Aim: The purpose of this study was to investigate the effects of −656 T > G and 1349 T > G single nucleotide polymorphisms (SNPs) in the APE1 gene in Saudi women with PCOS. Methods: This study includes 100 PCOS women and 100 healthy controls were genotyped for −656 T > G and 1349 T > G SNPs using PCR-RFLP method. Serum sample was used for FBG and lipid profile tests. The obtained biochemical and genotypes data were entered into Excel and utilized for statistical analysis. Results: Clinical data presented in Table 1 was used to calculate the t-tests between PCOS and control subjects and results indicate age, weight, BMI, TG, LDLC and PCOS family history was associated (p < 0.0001). Genotype and allele frequencies showed the negative association in −656 T > G SNP (GG vs TT: OR-1.15 (0.61–2.17); p = 0.65 and GG + TG vs TT: OR-1.17 (0.67–2.04); p = 0.57) and positive association in 1349 T > G SNP (GG vs TT: OR-3.52 (1.48–8.36); p = 0.003 and GG + TG vs TT: OR-2.84 (1.27–6.31); p = 0.008) in APE1 gene. Anova analysis was not associated with any one of the involved parameters (p > 0.05). Conclusion: This study found that the 1349 T > G SNP was related with PCOS in Saudi women. However, the −656SNP had no favorable effect on the APE1 gene. |
| first_indexed | 2024-04-10T05:14:53Z |
| format | Article |
| id | doaj.art-6102f93a51bc4402a687bd23a2669702 |
| institution | Directory Open Access Journal |
| issn | 1319-562X |
| language | English |
| last_indexed | 2024-04-10T05:14:53Z |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Saudi Journal of Biological Sciences |
| spelling | doaj.art-6102f93a51bc4402a687bd23a26697022023-03-09T04:12:47ZengElsevierSaudi Journal of Biological Sciences1319-562X2023-03-01303103563Genetic contribution between APE1 variants in polycystic ovarian syndromeJohara Al-Mutawa0Obstetrics and Gynecology Department, College of Medicine, King Khalid University Hospital, Riyadh, Saudi ArabiaIntroduction: Polycystic Ovarian Syndrome (PCOS) has been identified as a gynecological, hormonal, and metabolic condition in women of reproductive age. Genetic studies can contribute to understand the pathogenesis of PCOS; which can be beneficial in early diagnosis and long-term management of the disease. Apurinic/apyrimidinic endonuclease 1 (APE1) has been related in the literature to polycystic ovarian syndrome. Aim: The purpose of this study was to investigate the effects of −656 T > G and 1349 T > G single nucleotide polymorphisms (SNPs) in the APE1 gene in Saudi women with PCOS. Methods: This study includes 100 PCOS women and 100 healthy controls were genotyped for −656 T > G and 1349 T > G SNPs using PCR-RFLP method. Serum sample was used for FBG and lipid profile tests. The obtained biochemical and genotypes data were entered into Excel and utilized for statistical analysis. Results: Clinical data presented in Table 1 was used to calculate the t-tests between PCOS and control subjects and results indicate age, weight, BMI, TG, LDLC and PCOS family history was associated (p < 0.0001). Genotype and allele frequencies showed the negative association in −656 T > G SNP (GG vs TT: OR-1.15 (0.61–2.17); p = 0.65 and GG + TG vs TT: OR-1.17 (0.67–2.04); p = 0.57) and positive association in 1349 T > G SNP (GG vs TT: OR-3.52 (1.48–8.36); p = 0.003 and GG + TG vs TT: OR-2.84 (1.27–6.31); p = 0.008) in APE1 gene. Anova analysis was not associated with any one of the involved parameters (p > 0.05). Conclusion: This study found that the 1349 T > G SNP was related with PCOS in Saudi women. However, the −656SNP had no favorable effect on the APE1 gene.http://www.sciencedirect.com/science/article/pii/S1319562X23000086APE1 geneSingle Nucleotide Polymorphisms (SNPs)−656T>G and 1349T>G |
| spellingShingle | Johara Al-Mutawa Genetic contribution between APE1 variants in polycystic ovarian syndrome Saudi Journal of Biological Sciences APE1 gene Single Nucleotide Polymorphisms (SNPs) −656T>G and 1349T>G |
| title | Genetic contribution between APE1 variants in polycystic ovarian syndrome |
| title_full | Genetic contribution between APE1 variants in polycystic ovarian syndrome |
| title_fullStr | Genetic contribution between APE1 variants in polycystic ovarian syndrome |
| title_full_unstemmed | Genetic contribution between APE1 variants in polycystic ovarian syndrome |
| title_short | Genetic contribution between APE1 variants in polycystic ovarian syndrome |
| title_sort | genetic contribution between ape1 variants in polycystic ovarian syndrome |
| topic | APE1 gene Single Nucleotide Polymorphisms (SNPs) −656T>G and 1349T>G |
| url | http://www.sciencedirect.com/science/article/pii/S1319562X23000086 |
| work_keys_str_mv | AT joharaalmutawa geneticcontributionbetweenape1variantsinpolycysticovariansyndrome |