Document Details

Document Type : Thesis 
Document Title :
GENETIC VARIATIONS ASSOCIATED WITH POLYCYSTIC OVARY SYNDROME IN SAUDI ARABIA
التغيرات الجينية المرتبطة بتكيس المبايض في المملكة العربية السعودية
 
Subject : Faculty of Science 
Document Language : Arabic 
Abstract : Polycystic ovarian syndrome (PCOS) is the most common endocrine disease among premenopausal women. The pathogeny of PCOS is still not completely understood, but its genetic origin had been approved through genome wide association studies (GWAS). We aim in this project to determine the variation of six single nucleotide polymorphisms (SNPs) that were previously report¬ed to be associated to PCOS among the Saudi population and investigate their association with PCOS and its symptoms. In this case-control study premenopausal women aged between 18-38 years were diagnosed with PCOS according to Rotterdam criteria (n = 95) between 2016-2018. Normal ovulatory females were used as controls (n = 94). Genotyping was performed by real-time polymerase chain reaction using TaqMan genotyping for rs13429458 in thyroid adenoma associated (THADA) gene, rs4784165 in TOX transcriptional coactivator of the p300/CBP-mediated transcription complex gene, rs2268361 in follicle stimulating hormone receptor (FSHR) gene, rs1894116 in yes associated protein 1 gene, rs705702 in ras related protein 5B gene and rs2272046 in high mobility group AT-hook 2 gene. We detected direct association of rs13429458 variant in THADA with PCOS (p = 0.033). Additionally, rs13429458 showed a significant association with hyperandrogenism (HA) phenotype in PCOS women (p = 0.031). We revealed a significant association between anti-mullerian hormone (AMH) at levels less than cutoff level (3.19 ng/ml) and rs2268361 variant in FSHR in the control group (p = 0.016). Furthermore, rs13429458 and rs4784165 SNPs showed a significant association with oligo/amenorrhea (OA) + polycystic ovarian morphology subgroup (p = 0.009, p = 0.028 respectively) while rs2272046 showed a significant association with HA+OA subgroup (p = 0.043). In conclusion, serum AMH is a promising prognostic and diagnostic marker of the ovarian dysfunction in PCOS patients. The association between rs13429458 and PCOS among Saudi female indicates a common genetic risk profile for PCOS across different populations. 
Supervisor : Dr. Sherin Mohamed Bakhashab 
Thesis Type : Master Thesis 
Publishing Year : 1441 AH
2019 AD 
Added Date : Thursday, October 24, 2019 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
ندا علي أحمدAhmed, Nada AliResearcherMaster 

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