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Syed Douhath Yousuf, Mohammad Ashraf Ganie, Mohammad Afzal Zargar, Shajr Ul Amin, Gulzar A Bhat, Akbar Masood, Fouzia Rashid
Background: Polycystic ovary syndrome (PCOS), associated with a state of low grade chronic inflammation, depends on multiple genetic and environmental factors. Elevated levels of inflammatory markers including intercellular adhesion molecule-1 (ICAM-1) have been demonstrated in affected women. Recent evidence indicates a significant linkage between chromosome 19p13 loci and multifactorial diseases that have an inflammatory component. The aim of this study was to assess the possible association of the lys469glu (K469E) polymorphism of the ICAM-1 gene located on chromosome 19p13 with risk of PCOS in Kashmiri women...
November 26, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
Xinghua Xu, Lang Qin, Ye Tian, Min Wang, Guangyao Li, Yanzhi Du, Zi-Jiang Chen, Weiping Li
Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disease. Previous studies indicate that genes GGT1 and HNF1A may contribute to the abnormal glucose metabolism and altered lipid profile that are important clinical features of PCOS. In the current study, the correlation between polymorphisms in the GGT1 and HNF1A genes and PCOS was explored. A total of 310 family trios were studied and the transmission disequilibrium test (TDT) was used to assess the linkage between PCOS and three single-nucleotide polymorphisms (SNP) (rs4820599 of GGT1, rs7305618 and rs2393791 of HNF1A)...
November 7, 2017: Reproductive Biomedicine Online
Luana B Xavier, Mirelle O Sóter, Mariana F Sales, Daisy K Oliveira, Helton J Reis, Ana L Candido, Fernando M Reis, Ieda O Silva, Karina B Gomes, Cláudia N Ferreira
Dyslipidemia is one of the common metabolic disorders in Polycystic Ovary Syndrome (PCOS). Proprotein convertase subtilisin kexin type 9 (PCSK9) is a new component of lipid metabolism and correlated to the development of dyslipidemia and atherosclerosis. This protein acts by preventing the recycling of LDL receptors (LDL-r) back to the cell surface and thus generates higher levels of LDLc. The objective of this study was to evaluate the PCSK9 polymorphisms rs505151 (c.2009A>G), rs562556 (c.1420A>G) and rs11206510 (T>C) and plasma PCSK9 levels in PCOS...
November 3, 2017: Gene
Li Chen, Ling-Min Hu, Yu-Feng Wang, Hai-Yan Yang, Xiao-Yang Huang, Wei Zhou, Hai-Xiang Sun
This study investigated the possible association between single nucleotide polymorphism (SNP) sites on a genome wide level and the presence of polycystic ovary syndrome (PCOS) in a local population. Patients treated for PCOS in the outpatient clinic of the reproductive medicine center of Changzhou Maternal and Child Health Care Hospital (affiliated to Nanjing Medical University) from January of 2010 to December 2012 were selected. Female patients affected by infertility due to simple oviduct reasons or male factors, during the same period, were enrolled for the control group...
November 2017: Experimental and Therapeutic Medicine
Anahita Mehdizadeh, Seyed Mehdi Kalantar, Mohammad Hassan Sheikhha, Bibi Shahnaz Aali, Azam Ghanei
BACKGROUND: Genetic factors are believed to play an important role in the etiology of polycystic ovarian syndrome (PCOS) which is the most common endocrinological disorder of women in their reproductive age. Androgen metabolism is impaired in PCOS and, thus, CYP19 gene which is involved in this pathway can be a candidate gene. Previous studies have shown a relationship between single nucleotide polymorphism (SNP) of CYP19 in hyperandrogenism and PCOS in some racial groups. OBJECTIVE: This study was designed to elucidate the role of CYP19 gene in PCOS in Iran...
August 2017: International Journal of Reproductive Biomedicine (Yazd, Iran)
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...
August 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
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