title: Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.
abstract: HFM1 is a meiosis-specific gene and expressed in germ-line tissues. More recently, evidence has indicated that variations in HFM1 gene could be causative for primary ovarian insufficiency (POI), also known as premature ovarian failure. The aim of this study was to investigate the association between HFM1 gene variants and sporadic POI in Chinese women. A total of 138 POI patients and 316 healthy controls (matched for ethnic background, sex, and age of the patients) were recruited in this study. We screened the entire HFM1 coding region by direct sequencing in all subjects and identified six variants of HFM1 gene in POI group, namely c.148G>A/p.Glu50Lys, c.1241A>C/p.His414Pro, c.2325C>A/p.Phe775Leu, c.3367T>C/p.Ser1123Pro, c.3580C>T/p.Arg1194Cys, and c.1686-1G>C. The variation rate of HFM1 in POI group is significantly higher than control group (p < 0.01). The p.His414Pro and p.Arg1194Cys were predicted to be probably damaging to the HFM1 protein function, while p.Glu50Lys, p.Phe775Leu and p.Ser1123Pro mutants might not have any deleterious effect on the structure or function of the protein by online predictors. Taken together, our data suggested that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population.
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University / Jiangsu Province Hospital / Jiangsu Women and Children Health Hospital, Nanjing, China.
authors.forename: D
authors.initials: D
authors.lastname: Pu
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University / Jiangsu Province Hospital / Jiangsu Women and Children Health Hospital, Nanjing, China.
authors.forename: C
authors.initials: C
authors.lastname: Wang
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University / Jiangsu Province Hospital / Jiangsu Women and Children Health Hospital, Nanjing, China.
authors.forename: J
authors.initials: J
authors.lastname: Cao
authors.affiliation: Departments of Laboratory Medicine and Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
authors.forename: Y
authors.initials: Y
authors.lastname: Shen
authors.affiliation: Reproductive Medicine Center, the 105th hospital of PLA, Hefei, China.
authors.forename: H
authors.initials: H
authors.lastname: Jiang
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University / Jiangsu Province Hospital / Jiangsu Women and Children Health Hospital, Nanjing, China.
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.affiliation: Departments of Laboratory Medicine and Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.|Children's Hospital of Fudan University, Department of Pathology and Institute of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, China.
authors.forename: B L
authors.initials: BL
authors.lastname: Wu
authors.affiliation: Departments of Laboratory Medicine and Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.|Reproductive Medicine Center, the 105th hospital of PLA, Hefei, China.
authors.forename: W
authors.initials: W
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Reproductive Medicine, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University / Jiangsu Province Hospital / Jiangsu Women and Children Health Hospital, Nanjing, China.
authors.forename: J
authors.initials: J
authors.lastname: Wu
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004265:DNA Helicases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000208:ethnology / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: C518881:HFM1 protein, human; D004265:DNA Helicases
keywords: HFM1; gene; primary ovarian insufficiency; variation