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Fang Wang, Wen-Bin Niu, Hui-Juan Kong, Yi-Hong Guo, Ying-Pu Sun
The etiology of polycystic ovaries syndrome (PCOS) is unknown. Studies probing the role of genetic variants of anti-Mullerian hormone (AMH) and its type II receptor (AMHR2) in the pathogenesis of PCOS have yielded inconsistent results. Thus, we performed a systematic review and meta-analysis to determine the role of genetic variants of AMH/AMHR2 in the pathogenesis of PCOS. A systematic search of electronic databases was performed. Statistical analysis was performed using the Comprehensive Meta-Analysis software (Version 3)...
September 21, 2016: Molecular and Cellular Endocrinology
Monika Szafarowska, Agnieszka Segiet, Malgorzata M Jerzak
OBJECTIVES: The aim of this study was to compare SNP C677T and A1298C in the MTHFR gene and pregnancy outcome in PCOS women. STUDY DESIGN: We investigated 76 PCOS and 56 non-PCOS women. Among PCOS patients 63 were women with a history of recurrent pregnancy loss (RPL) and 13 women were infertile. In non-PCOS group 40 women were RPL and 16 were infertile. We investigated the relationship between SNP in the MTHFR gene and pregnancy loss, homocysteine and AMH concentration in the study groups...
2016: Neuro Endocrinology Letters
Azadeh-Sadat Nazouri, Mona Khosravifar, Ali-Asghar Akhlaghi, Marzieh Shiva, Parvaneh Afsharian
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine women's disorders in reproductive age. Hyperandrogenism has a critical role in the etiology of PCOS and it can cause fault in Steroidogenesis process. During steroidogenesis, steroidogenic acute regulatory protein (StAR) seems to increase the delivery of cholesterol through mitochondrial membrane. Therefore, polymorphisms of StAR might effect on this protein and play a role in the etiology of PCOS. OBJECTIVE: The aim of this study was to investigate the association between StAR SNPs with PCOS...
December 2015: International Journal of Reproductive Biomedicine (Yazd, Iran)
Syed Douhath Yousuf, Mohammad Ashraf Ganie, Mohammad Afzal Zargar, Tabasum Parvez, Fouzia Rashid
BACKGROUND: Polycystic ovary syndrome (PCOS) is considered to be a multifactorial disorder resulting from the interaction of several predisposing and protective genetic variants. PCOS is associated with low-grade chronic inflammation. Elevated levels of inflammatory markers including intercellular adhesion molecule-1 (ICAM-1) are demonstrated in women with PCOS. Recent evidence indicates a significant linkage between a locus on chromosome 19p13 and multifactorial diseases that have an inflammatory component...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Vandana Nambiar, Vijayabhavanath Vijayakumaran Vijesh, Prabha Lakshmanan, Shervin Sukumaran, Ramaswamy Suganthi
OBJECTIVES: To investigate whether genetic polymorphisms in the resistin and adiponectin genes cause a predisposition towards polycystic ovary syndrome (PCOS) in a South Indian women population. STUDY DESIGN: This case controlled study included samples from 484 study subjects (282 diagnosed with PCOS and 200 normal controls). The clinical and biochemical parameters of the samples assayed included BMI, LH, FSH, testosterone, fasting glucose, adiponectin and resistin levels...
May 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Wenjuan Zhang, Xingguo Wu, Mingde Ding, Xinyan Yu, Guanghai Liu, Yuhua Shi
OBJECTIVE: To investigate the frequeney of four single nucleotide polymorphism (SNP) sites (rs17300539, rs12495941, rs2241766 and rs1501299) of adiponectin gene (ADIPOQ) and to elucidate its role in the pathogenesis of polycystic ovary syndrome (PCOS). METHODS: A total of 207 women with PCOS and 192 controls were recruited. Four ml whole-blood samples were collected in tubes containing ethylene diamine tetraacetic acid (EDTA) by peripheral venous puncture. Genomic DNA was extracted using a QIAamp DNA mini kit...
November 2015: Zhonghua Fu Chan Ke za Zhi
Zong-Zhe Jiang, Meng-Wen Hu, Xue-Shan Ma, Heide Schatten, Heng-Yu Fan, Zhen-Bo Wang, Qing-Yuan Sun
Liver Kinase b1 (LKB1/STK11)is a tumor suppressor responsible for the Peutz-Jeghers syndrome, an autosomal-dominant, cancer-prone disorder in which patients develop neoplasms in several organs, including the oviduct, ovary, and cervix. Besides, the C allele of a SNP in the Lkb1 gene impedes the likelihood of ovulation in polycystic ovary syndrome (PCOS) in women treated with metformin, a known LKB1-AMPK activator. It is very likely that LKB1 plays roles in female fertility. To identify the physiological functions of LKB1 in the mouse ovary, we selectively disrupted LKB1 in oocytes by the Cre-LoxP conditional knockout system and found that Lkb1fl/fl; Gdf9-Cre mice were severely subfertile with significantly enlarged ovaries compared to Lkb1fl/fl mice...
February 2, 2016: Oncotarget
Sukanya Gangopadhyay, Nitin Agrawal, Aruna Batra, Bhaskar Charan Kabi, Akash Gupta
Polycystic ovarian syndrome (PCOS), a major cause of infertility, is also strongly associated with insulin resistance. Defects in insulin receptor signaling are considered as one of the major molecular pathogeneses for insulin resistance. To investigate the possible mechanism of this signaling defect at genetic level, single-nucleotide polymorphism (SNP) [His 1085 C/T] at the exon 17 of insulin receptor gene (INSR) was studied in this pilot study. Polymerase chain reaction was performed on leucocytic DNA of women diagnosed with PCOS, selected from the outpatient department of Safdarjung Hospital, New Delhi, using suitable primer to amplify a region on INSR...
April 2016: Biochemical Genetics
Praveen Guruvaiah, Suresh Govatati, Tumu Venkat Reddy, Himabindu Beeram, Mamata Deenadayal, Sisinthy Shivaji, Manjula Bhanoori
OBJECTIVE: Polycystic ovarian syndrome (PCOS) is a complex and multifactorial disorder believed to be the consequence of a complex interaction between genetic, immunological, and environmental factors. The main aim of this study was to investigate the association of Connexin37 (Cx37)/Gap junction alpha 4 (GJA4) gene C1019T single nucleotide polymorphism (SNP) with the susceptibility to polycystic ovarian syndrome (PCOS) in South Indian women. STUDY DESIGN: This study comprises 98 PCOS patients and 100 healthy women without PCOS of South Indian origin...
January 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Hongxi Xue, Han Zhao, Xin Liu, Yue-ran Zhao, Zi-Jiang Chen, Jinlong Ma
PURPOSE: The objective of this study was to evaluate the association between single-nucleotide polymorphisms (SNPs) rs2197076 and rs2241883 in fatty acid-binding protein 1 (FABP1) gene and polycystic ovary syndrome (PCOS). METHODS: The two alleles rs2197076 and rs2241883 in FABP1 gene in 221 PCOS women and 198 normal women were amplified and sequenced. Allele frequency comparison was performed between the PCOS and control groups, and genotype-phenotype correlation analysis was performed using dominant and recessive models to assess the association of FABP1 and the main features of PCOS...
January 2016: Journal of Assisted Reproduction and Genetics
Hyejin Lee, Jee-Young Oh, Yeon-Ah Sung, Hye Won Chung
STUDY QUESTION: Is a genetic risk score (GRS) associated with polycystic ovary syndrome (PCOS) and its related clinical features? SUMMARY ANSWER: The GRS calculated by genome-wide association studies (GWASs) was significantly associated with PCOS status and its related clinical features. WHAT IS KNOWN ALREADY: PCOS is a heterogeneous disorder and is characterized by oligomenorrhea, hyperandrogenism and polycystic ovary morphology. Although recent GWASs have identified multiple genes associated with PCOS, a comprehensive genetic risk study of these loci with PCOS and related traits (e...
January 2016: Human Reproduction
X Song, X Sun, G Ma, Y Sun, Y Shi, Y Du, Zi-Jiang Chen
OBJECTIVE: The melatonin receptor (MTNR) gene, reported to be associated with insulin sensitivity, diabetes and metabolic syndrome, could be a plausible candidate gene for polycystic ovary syndrome (PCOS). This study was designed to investigate whether an association exists between two single nucleotide polymorphism (SNP) variants (rs2119882 and rs10830963) of the MTNR gene and PCOS in Han Chinese. STUDY DESIGN: In total, 263 family trios (789 participants) were enrolled in this family-based transmission disequilibrium test (TDT)...
December 2015: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Shilpi Dasgupta, Joyita Dutta, Sandhya Annamaneni, Neelaveni Kudugunti, Mohan Reddy Battini
BACKGROUND & OBJECTIVES: The Vitamin-D receptor (VDR) regulates vitamin D levels and calcium metabolism in the body and these are known to be associated with endocrine dysfunctions, insulin resistance and type-2 diabetes in polycystic ovarian syndrome (PCOS). Studies on VDR polymorphisms among PCOS women are sparse. We undertook this study to investigate the association pattern of VDR polymorphisms (Cdx2, Fok1, Apa1 and Taq1) with PCOS among Indian women. METHODS: For the present study, 250 women with PCOS and 250 normal healthy control women were selected from Hyderabad city, Telangana, India...
September 2015: Indian Journal of Medical Research
Ying Chan, Hongguo Jiang, Xiaoling Yang, Dongya Li, Lan Ma, Ying Luo, Wenru Tang
This study aimed at evaluating possible association between MDM2 SNP309 polymorphism (rs 2279744) and polycystic ovary syndrome (PCOS). One hundred and twenty-five women with PCOS and two hundred and fifty women without PCOS were collected from the department of reproductive medicine of college hospital in this case-control study. Peripheral blood samples were collected from all participants and DNA was extracted, MDM2 SNP309 polymorphism (rs 2279744) was determined from the 125 cases and 250 controls. Women were grouped into PCOS (nā€‰=ā€‰125) group and control group (nā€‰=ā€‰250)...
2016: Gynecological Endocrinology
Unjin Shim, Han-Na Kim, Hyejin Lee, Jee-Young Oh, Yeon-Ah Sung, Hyung-Lae Kim
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is affected by both environmental and genetic factors. Although the genetic component of PCOS is evident, studies aiming to identify susceptibility genes have shown controversial results. This study conducted a pathway-based analysis using a dataset obtained through a genome-wide association study (GWAS) to elucidate the biological pathways that contribute to PCOS susceptibility and the associated genes...
2015: PloS One
Michelle R Jones, Meredith A Brower, Ning Xu, Jinrui Cui, Emebet Mengesha, Yii-Der I Chen, Kent D Taylor, Ricardo Azziz, Mark O Goodarzi
Genome wide association studies (GWAS) have revealed 11 independent risk loci for polycystic ovary syndrome (PCOS), a common disorder in young women characterized by androgen excess and oligomenorrhea. To put these risk loci and the single nucleotide polymorphisms (SNPs) therein into functional context, we measured DNA methylation and gene expression in subcutaneous adipose tissue biopsies to identify PCOS-specific alterations. Two genes from the LHCGR region, STON1-GTF2A1L and LHCGR, were overexpressed in PCOS...
August 2015: PLoS Genetics
M Geoffrey Hayes, Margrit Urbanek, David A Ehrmann, Loren L Armstrong, Ji Young Lee, Ryan Sisk, Tugce Karaderi, Thomas M Barber, Mark I McCarthy, Stephen Franks, Cecilia M Lindgren, Corrine K Welt, Evanthia Diamanti-Kandarakis, Dimitrios Panidis, Mark O Goodarzi, Ricardo Azziz, Yi Zhang, Roland G James, Michael Olivier, Ahmed H Kissebah, Elisabet Stener-Victorin, Richard S Legro, Andrea Dunaif
Polycystic ovary syndrome (PCOS) is a common, highly heritable complex disorder of unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in glucose homeostasis. Increased luteinizing hormone relative to follicle-stimulating hormone secretion, insulin resistance and developmental exposure to androgens are hypothesized to play a causal role in PCOS. Here we map common genetic susceptibility loci in European ancestry women for the National Institutes of Health PCOS phenotype, which confers the highest risk for metabolic morbidities, as well as reproductive hormone levels...
2015: Nature Communications
Tao Du, Yu Duan, Kaiwen Li, Xiaomiao Zhao, Renmin Ni, Yu Li, Dongzi Yang
BACKGROUND: Single-nucleotide polymorphisms (SNPs) in the follicle stimulating hormone receptor (FSHR) gene are associated with PCOS. However, their relationship to the polycystic ovary (PCO) morphology remains unknown. This study aimed to investigate whether PCOS related SNPs in the FSHR gene are associated with PCO in women with PCOS. METHODS: Patients were grouped into PCO (n = 384) and non-PCO (n = 63) groups. Genomic genotypes were profiled using Affymetrix human genome SNP chip 6...
2015: BioMed Research International
Shigang Zhao, Ye Tian, Xuan Gao, Xiuqing Zhang, Hongbin Liu, Li You, Yongzhi Cao, Shizhen Su, Wai-Yee Chan, Yun Sun, Han Zhao, Zi-Jiang Chen
Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that is proposed to have a genetic basis. A recent genome-wide association study (GWAS) identified eight new risk loci that are independently associated with PCOS. To further validate the findings, a total of 321 case-parent trios (963 participants) who had a proband affected with PCOS were recruited for the family-based study. The transmission disequilibrium test (TDT) was used to analyze associations between PCOS and ten single nucleotide polymorphisms (SNPs) mapped to eight new susceptibility loci...
2015: Scientific Reports
Redha Attaoua, Nelly Boeckler, Serban Radian, Samira Ait El Mkadem, Patrick Poucheret, Violaine Latapie, Monica Gheorghiu, Simona Fica, Madalina Vintila, Christophe Normand, Mihail Coculescu, Florin Grigorescu
INTRODUCTION: Insulin gene VNTR was associated with polycystic ovary syndrome (PCOS) in some studies but not in others. This couldb be due to the heterogeneity of the definition of PCOS and/or the use of inappropriate gene mapping strategies. MATERIAL AND METHODS: In this investigation, the association of VNTR with PCOS was explored in a population of women from Central Europe (377 cases and 105 controls) in whom PCOS was diagnosed according to Rotterdam criteria...
2015: Endokrynologia Polska
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