title: Family association study between melatonin receptor gene polymorphisms and polycystic ovary syndrome in Han Chinese.
abstract: 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.
  
  
  METHODS
  In total, 263 family trios (789 participants) were enrolled in this family-based transmission disequilibrium test (TDT). Genotypes were obtained by sequencing. In total, 135 trios of rs2119882 and 127 trios of rs10830963 were tested.
  
  
  RESULTS
  An association was detected between rs2119882 (p=0.0209) and PCOS, suggesting that the MTNR gene may indicate increased susceptibility to PCOS in Chinese. No significant association was found for rs10830963 (transmitted:non-transmitted=76:51, p=0.1573). The association between the MTNR gene variants and clinical characteristics of women with PCOS was investigated. CC genotype carriers had higher levels of clinical and metabolic features than the TC and TT genotypes. A significant difference in transmission of allele C of rs2119882 was found between obese and non-obese women with PCOS (Chi-squared=5.5983, p=0.018).
  
  
  CONCLUSIONS
  This study may provide a basis for further studies of the MTNR gene in the aetiology of PCOS.
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; Department of Gynaecology and Obstetrics, Dongying People's Hospital, China.
authors.forename: X
authors.initials: X
authors.lastname: Song
authors.affiliation: Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
authors.forename: X
authors.initials: X
authors.lastname: Sun
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
authors.forename: G
authors.initials: G
authors.lastname: Ma
authors.affiliation: Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Du
authors.affiliation: Centre for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China; Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China; National Research Centre for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; Reproductive Medical Hospital Affiliated to Shandong University, Jinan, China. Electronic address: chenzijiang@hotmail.com.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000150:complications / Q000235:genetics*; D010290:Parents; D011085:Polycystic Ovary Syndrome / Q000150:complications / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D044122:Receptor, Melatonin, MT1; D044123:Receptor, Melatonin, MT2 / Q000235:genetics*; D044094:Receptors, Melatonin / Q000235:genetics*; D055815:Young Adult
chemical_list: C000610981:MTNR1A protein, human; C573871:MTNR1B protein, human; D044122:Receptor, Melatonin, MT1; D044123:Receptor, Melatonin, MT2; D044094:Receptors, Melatonin
keywords: Melatonin receptor; Polycystic ovary syndrome; Single nucleotide polymorphism; Transmission disequilibrium test