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Jin Ju Kim, Young Min Choi, Min A Hong, Soo Jin Chae, Kyuri Hwang, Sang Ho Yoon, Seung Yup Ku, Chang Suk Suh, Seok Hyun Kim
PURPOSE: The purpose of this study was to investigate whether the follicle-stimulating hormone receptor (FSHR) gene p. Thr307Ala (c.919A>G, rs6165) and p. Asn680Ser (c.2039A>G, rs6166) polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). METHODS: Genotyping was performed in 377 women with PCOS and 388 age-matched controls. Difference in the genotype distribution was assessed using a Fisher's exact or chi-square test, and continuous variables were compared using a Student's t test...
May 25, 2017: Journal of Assisted Reproduction and Genetics
Yue Lv, Changfa Sun, Ye Tian, Shigang Zhao, Yuehong Bian, Lei Cheng, Mei Sun, Hong-Bin Liu, Han Zhao, Jinlong Ma
PURPOSE: This study aims to ascertain whether an association exists between hepatocyte nuclear factor 1 alpha (HNF1A) and polycystic ovary syndrome (PCOS). METHODS: One thousand one hundred thirty-eight PCOS and 1125 healthy control Han Chinese women were recruited from Reproductive Hospital Affiliated to Shandong University. Serum hormone, blood lipid level, and genomic DNA were obtained from the peripheral blood for this research. Two single-nucleotide polymorphisms (SNPs)-rs2393791 and rs7305618-located in HNF1A were genotyped using the Sequenom MassARRAY system...
May 2017: Journal of Assisted Reproduction and Genetics
Betânia Rodrigues Santos, Sheila Bünecker Lecke, Poli Mara Spritzer
Vitamin D deficiency has been related to metabolic syndrome (MetS) in polycystic ovary syndrome (PCOS). The vitamin D-binding protein (DBP) is the main protein involved in vitamin D transport. Two single-nucleotide polymorphisms (SNPs) of the DBP gene, rs4588 and rs7041, have been associated with low circulating levels of 25-hydroxyvitamin D [25(OH)D] in various populations, but not in women with PCOS. Therefore, we determined the genotype and haplotype distribution of DBP gene polymorphisms and investigated the associations between these genetic variants and their haplotypes with PCOS, MetS, and 25(OH)D levels in women with PCOS and controls from the South of Brazil...
2017: PloS One
Xianchang Sun, Xingguo Wu, Yunmin Duan, Guanghai Liu, Xinyan Yu, Wenjuan Zhang
BACKGROUND Polycystic ovary syndrome (PCOS) is a complex disease that has both genetic and environmental components. Adiponectin plays an important role in the regulation of insulin sensitivity and insulin resistance (IR) in PCOS. The aim of this study was to determine 2 single-nucleotide polymorphisms (SNPs) variants (rs12495941 and rs17300539) of the adiponectin gene (ADIPOQ) in polycystic ovary syndrome (PCOS) families. MATERIAL AND METHODS We recruited 197 PCOS probands, their biological parents, and 192 controls...
January 6, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Deepa Haldar, Nitin Agrawal, Seema Patel, Pankaj Ramrao Kambale, Kanchan Arora, Aditi Sharma, Manish Tripathi, Aruna Batra, Bhaskar C Kabi
PURPOSE: Polycystic ovarian syndrome (PCOS) is the most common endocrine abnormality among women of reproductive age and is usually associated with oligo-ovulation/anovulation, obesity, and insulin resistance. Hypovitaminosis D may also be a primary factor in the initiation and development of PCOS. However, little is known about the role of genetic variation in vitamin D metabolism in PCOS aetiology. Therefore, we studied the genetic polymorphisms of CYP2R1 and vitamin D binding protein (VDBP) in an Indian population...
December 23, 2016: European Journal of Nutrition
Assila Ben Salem, Fatma Megdich, Olfa Kacem, Malek Souayeh, Faten Hachani Ben Ali, Sondes Hizem, Faouzi Janhai, Mounir Ajina, Muhammad Abu-Elmagd, Mourad Assidi, Mohammed H Al Qahtani, Touhami Mahjoub
BACKGROUND: Polycystic ovary syndrome (PCOS) is characterized by the growth of a number of small cysts on the ovaries which leads to sex hormonal imbalance. Women who are affected by this syndrome suffer from irregular menstrual cycles, decline in their fertility, excessive hair growth, obesity, acne and most importantly cardiac function problems. The vascular endothelial growth factor (VEGF) plays a pivotal role in tissue vascularization in general and in the pathogenesis of many diseases...
October 17, 2016: BMC Genomics
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 (n = 125) group and control group (n = 250)...
2016: Gynecological Endocrinology
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