Document Details
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Document Type |
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Thesis |
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Document Title |
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CORRELATION BETWEEN POLYCYSTIC OVARY SYNDROME AND GENETIC VARIATIONS ASSOCIATED WITH OBESITY IN KINGDOM OF SAUDI ARABIA الإرتباط بين متلازمة تكيس المبايض والتغيرات الجينية المصاحبة للسمنة في المملكة العربية السعودية |
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Subject |
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Faculty of Science |
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Document Language |
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Arabic |
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Abstract |
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Polycystic ovary syndrome (PCOS) is an endocrine disorder causing infertility in reproductive-age women. PCOS is thought to be influenced by environmental and genetic factors, and greatly related to obesity. Melanocortin 4 receptor (MC4R) and Fat mass and obesity (FTO) genes polymorphisms were detected to be associated with obesity, particularly in PCOS women. Therefore, we aimed to determine the genotype and allele frequency of selected MC4R and FTO variants in PCOS and investigate their association with PCOS and its clinical variables. A case-control study was conducted on 95 PCOS cases and 94 controls. Genotyping was performed by real-time polymerase chain reaction (PCR) and OpenArray® using TaqManTM Genotyping assays. MC4R rs12970134 and rs17782313 were significantly associated with body mass index (BMI >30 kg/m2, p < 0.0001) in PCOS women. Risk alleles were A for rs12970134 and C for rs17782313 that were associated with high BMI (>30 kg/m2) in the homozygous state. Additionally, the genotypes, AG/GG for rs12970134 and CT/TT for rs17782313, were associated with anti-Müllerian hormone, hyperandrogenism, hirsutism, and loss of hair in PCOS. FTO rs17817449, rs1421085, rs9939609, and rs9930506 variants were significantly associated with PCOS susceptibility (p < 0.0001, p= 0.003, p < 0.0001, p < 0.0001) respectively. The TT/CT genotypes for rs1421085 and CC genotype for rs8050136 were associated with high BMI in PCOS women. Moreover, rs8050136 and rs17817449 were significantly associated with loss of hair in PCOS group (p= 0.013, p= 0.038 respectively). Risk alleles were C in rs8050136 and G in rs17817449 were associated with loss of hair in PCOS patients in homozygous state. In conclusion, MC4R variants rs12970134 and rs17782313, were correlated with elevated BMI and other clinical variables in PCOS but not with PCOS itself. The FTO variants rs17817449, rs1421085, rs9939609, and rs9930506 are associated directly with PCOS, elevated BMI and loss of hair in PCOS patients. |
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Supervisor |
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Dr. Sherin Mohamed Bakhashab |
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Thesis Type |
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Master Thesis |
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Publishing Year |
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1441 AH
2020 AD |
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Added Date |
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Wednesday, June 3, 2020 |
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Researchers
| اسماء احمد باطرفي | Batarfi, Asma Ahmed | Researcher | Master | |
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