title: The analysis of mitochondrial DNA haplogroups and variants for in vitro fertilization failure in a Han Chinese population.
abstract: In this study, we aimed to investigate the associations of mitochondrial DNA (mtDNA) haplogroups and variants with in vitro fertilization (IVF) failure. A retrospective, comparative study of 260 fresh IVF cycles in a Han Chinese population was performed from July 2011 to April 2014. Seventy-three couples had low fertilization rates (≤30%) or total fertilization failure, and 187 controls with normal fertilization were included. Human sperm mtDNA haplogroups and variants were determined by polymerase chain reaction (PCR), nested PCR and direct sequencing. One unreported point variant, A15397G, and two novel deletions at positions 8270-8278 and 8276-8284 were found in this study. A homozygous variant, G9053A in MT-ATP6, was detected in 4 of the 73 cases with fertilization failure, whereas this substitution was not detected in the control group (p < 0.01). The frequency of the point 10397 homozygous variant in MT-ND3 in the IVF failure group was markedly lower than that in the control group (p < 0.05). Furthermore, this study showed that the frequencies of point 8701 and 8943 heterozygous variants in MT-ATP6 in the IVF failure group were also markedly lower than those in the control group (p < 0.05). In addition, the frequency of haplogroup Z was markedly higher in the IVF failure group than in the control group (p < 0.05). Our results suggested that MT-ATP6 variants might be possible causes of IVF failure, but the 10397 homozygous variant in MT-ND3 might help decrease the risk of developing IVF failure. Furthermore, this study indicated that men with haplogroup Z might inherit a higher risk of IVF failure in the Han Chinese population.
authors.affiliation: a Reproductive Medical Center and.
authors.forename: Genhong
authors.initials: G
authors.lastname: Mao
authors.affiliation: a Reproductive Medical Center and.
authors.forename: Ping
authors.initials: P
authors.lastname: Lu
authors.affiliation: a Reproductive Medical Center and.
authors.forename: Xiao-Hui
authors.initials: XH
authors.lastname: Huang
authors.affiliation: b Department of Gynaecology and Obstetrics , The Second Affiliated Hospital of Zhengzhou University , Zhengzhou , P.R. China.
authors.forename: Wu-Liang
authors.initials: WL
authors.lastname: Wang
authors.affiliation: a Reproductive Medical Center and.
authors.forename: Shi-Bo
authors.initials: SB
authors.lastname: Tao
authors.affiliation: a Reproductive Medical Center and.
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.affiliation: a Reproductive Medical Center and.
authors.forename: Xiao-Ling
authors.initials: XL
authors.lastname: Wang
authors.affiliation: a Reproductive Medical Center and.
authors.forename: Ya-Nan
authors.initials: YN
authors.lastname: Wang
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D015415:Biomarkers; D002681:China; D004272:DNA, Mitochondrial; D005260:Female; D005307:Fertilization in Vitro; D005787:Gene Frequency; D050259:Genes, Mitochondrial; D056726:Genetic Association Studies; D014644:Genetic Variation; D005828:Genetics, Population; D054629:Genome, Mitochondrial; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012189:Retrospective Studies; D017422:Sequence Analysis, DNA; D017211:Treatment Failure
chemical_list: D015415:Biomarkers; D004272:DNA, Mitochondrial
keywords: Chinese; MT-ATP6; fertilization failure; halplogroup; mitochondrial DNA