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.
This study comprises 98 PCOS patients and 100 healthy women without PCOS of South Indian origin. We genotyped total of seventeen selected Cx37 SNPs including C1019T (rs1764391) by polymerase chain reaction and sequencing analysis. The genotype frequency and allele distributions of cases and controls were analyzed using Fisher's exact test.
The genotype and allele frequencies of the C1019T polymorphism significantly differ between cases and controls. The frequencies of C/C genotype (P = 0.009) and ‘C’ allele (P = 0.002) of the C1019T polymorphism showed a significant prevalence in cases compared to controls.
Our findings suggest that the Cx37 C1019T variation may contribute to the risk of PCOS in the South Indian women.
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- Quality of life in adolescent girls with polycystic ovary syndrome.Arch Pediatr Adolesc Med. 2002; 156: 556-560
- Polycystic ovary syndrome in 2011: genes, aging and sleep apnea in polycystic ovary syndrome.Nat Rev Endocrinol. 2011; 8: 72-74
- Complement protein C3 and coronary artery calcium in middle-aged women with polycystic ovary syndrome and controls.Gynecol Endocrinol. 2014; 30: 511-515
- Obesity and polycystic ovary syndrome.Clin Endocrinol (Oxf). 2006; 65: 137-145
- Natriuretic peptide precursor C delays meiotic resumption and sustains gap junction-mediated communication in bovine cumulus-enclosed oocytes.Biol Reprod. 2014; 91: 61
- Biochemical studies of mammalian oogenesis: metabolic cooperativity between granulosa cells and growing mouse oocytes.Dev Biol. 1981; 84: 455-464
- Bidirectional communication between oocytes and ovarian follicular somatic cells is required for meiotic arrest of mammalian oocytes.Proc Natl Acad Sci U S A. 2013; 110: E3723-E3729
- Gap junctional proteins: connexin 26, 32, and 43 in sheep ovaries throughout the estrous cycle.Endocrine. 1998; 8: 269-279
- Luteinizing hormone-induced connexin 43 down-regulation: inhibition of translation.Endocrinology. 2004; 145: 1617-1624
- Intercellular communication via connexin43 gap junctions is required for ovarian folliculogenesis in the mouse.Dev Biol. 2001; 233: 258-270
- Gap junctions and ovarian folliculogenesis.Reproduction. 2002; 123: 613-620
- Selective dye and ionic permeability of gap junction channels formed by connexin45.Circ Res. 1994; 75: 483-490
- Cx37 and Cx43 localize to zona pellucid in mouse ovarian follicles.Cell Commun Adhes. 2006; 13: 61-77
- Unexpected role for the human Cx37 C1019T polymorphism in tumour cell proliferation.Carcinogenesis. 2010; 31: 1922-1931
- Abnormally low expression of connexin 37 and connexin 43 in subcutaneously transplanted cryopreserved mouse ovarian tissue.J Assist Reprod Genet. 2008; 25: 489-497
- Association of connexin 37 gene polymorphisms with risk of coronary artery disease in northern Han Chinese.Cardiology. 2008; 110: 260-265
- Functional expression and biophysical properties of polymorphic variants of the human gap junction protein connexin37.Biochem Biophys Res Commun. 2000; 274: 216-224
- Connexin37 gene polymorphism and coronary artery disease in Taiwan.Int J Cardiol. 2001; 81: 251-255
- Prediction of the risk of myocardial infarction from polymorphisms in candidate genes.N Engl J Med. 2002; 347: 1916-1923
- Connexin37 1019 gene polymorphism in myocardial infarction patients and centenarians.Atherosclerosis. 2007; 191: 460-461
- Association between C1019T polymorphism of connexin37 and acute myocardial infarction: a study in patients from Sicily.Int J Cardiol. 2005; 102: 269-271
- Genetic variants of connexin37 are associated with carotid intima-medial thickness and future onset of ischemic stroke.Atherosclerosis. 2011; 214: 101-106
- Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome.Fertil Steril. 2004; 81: 19-25
- The VEGF +405 G>C 5′ untranslated region polymorphism and risk of PCOS: a study in the South Indian women.J Assist Reprod Genet. 2014; 31: 1383-1389
- Plasma membrane channels formed by connexins: their regulation and functions.Physiol Rev. 2003; 83: 1359-1400
- Connexin37 protects against atherosclerosis by regulating monocyte adhesion.Nat Med. 2006; 12: 950-954
- The modulatory effects of connexin 43 on cell death/survival beyond cell coupling.Prog Biophys Mol Biol. 2007; 94: 219-232
- Roles of gap junctions and hemichannels in bone cell functions and in signal transmission of mechanical stress.Front Biosci. 2007; 12: 1450-1462
- Connexins as precocious markers and molecular targets for chemical and pharmacological agents in carcinogenesis.Curr Med Chem. 2007; 14: 2288-2303
- Selective assembly of connexin37 into heterocellular geap junctions at the oocyte/granulosa cell interface.J Cell Sci. 2004; 117: 2699-2707
- Female infertility in mice lacking connexin 37.Nature. 1997; 385: 525-529
- A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development.J Intern Med. 1999; 246: 211-218
- Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality.N Engl J Med. 1995; 332: 1323-1329
Published online: November 21, 2015
Accepted: November 12, 2015
Received in revised form: November 5, 2015
Received: July 15, 2015
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