title: Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.
abstract: OBJECTIVE
  To investigate whether gene variants of SOHLH1 exist in Chinese and Serbian patients with primary ovarian insufficiency (POI).
  
  
  METHODS
  Case-control genetic study.
  
  
  METHODS
  University hospitals.
  
  
  METHODS
  A total of 364 Han Chinese and 197 Serbian women with nonsyndromic POI and ethnically matched controls.
  
  
  METHODS
  None.
  
  
  METHODS
  SOHLH1 gene sequencing.
  
  
  RESULTS
  We found 10 novel heterozygous variants in our cohorts of 561 women with POI but none in the 600 ethnically matched controls. Statistical and bioinformatic analyses indicated that three of the eight variants in Chinese POI cases are potentially disease causing. They comprise two missense variants (p.Ser317Phe and p.Glu376Lys) that might each change activity of the SOHLH1 protein as a transcription factor and one variant (c.*118C>T) located in the 3' untranslated region of the SOHLH1 gene, which might generate a new binding site for the microRNA hsa-miR-888-5p. Of the two variants in the Serbian POI cases, both were synonymous, and no missense variant was identified. The allele frequencies of some known single-nucleotide polymorphisms were statistically significantly different between patients and controls in both the Chinese and Serbian groups.
  
  
  CONCLUSIONS
  Our results suggest that SOHLH1 may be regarded as a new candidate gene for POI.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Shidou
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Guangyu
authors.initials: G
authors.lastname: Li
authors.affiliation: Department of Genetics, University of Leicester, Leicester, United Kingdom.
authors.forename: Raymond
authors.initials: R
authors.lastname: Dalgleish
authors.affiliation: Faculty of Medicine, University of Belgrade, Clinic of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia.
authors.forename: Svetlana
authors.initials: S
authors.lastname: Vujovic
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Xue
authors.initials: X
authors.lastname: Jiao
authors.affiliation: Gynaecology Research Unit, University Hospitals of Leicester, Leicester, United Kingdom.
authors.forename: Jin
authors.initials: J
authors.lastname: Li
authors.affiliation: Research and Global Programs, March of Dimes Foundation, White Plains, New York; Human and Molecular Genetics, Obstetrics and Gynecology, Herbert Wertheim College of Medicine, Florida International University, Miami, Florida.
authors.forename: Joe Leigh
authors.initials: JL
authors.lastname: Simpson
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China.
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.affiliation: Department of Genetics, University of Leicester, Leicester, United Kingdom.
authors.forename: Maja
authors.initials: M
authors.lastname: Ivanisevic
authors.affiliation: Department of Genetics, University of Leicester, Leicester, United Kingdom.
authors.forename: Miomira
authors.initials: M
authors.lastname: Ivovic
authors.affiliation: Department of Genetics, University of Leicester, Leicester, United Kingdom.
authors.forename: Milina
authors.initials: M
authors.lastname: Tancic
authors.affiliation: Gynaecology Research Unit, University Hospitals of Leicester, Leicester, United Kingdom. Electronic address: fa2@leicester.ac.uk.
authors.forename: Farook
authors.initials: F
authors.lastname: Al-Azzawi
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, People's Republic of China; Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, People's Republic of China. Electronic address: chenzijiang@hotmail.com.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics*; D055771:Serbia / Q000208:ethnology; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D014157:Transcription Factors; C552401:SOHLH1 protein, human
keywords: Primary ovarian insufficiency; SOHLH1; variant screening