Kazufumi Haino

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To identify susceptibility genes for endometriosis in Japanese women, genome-wide association (GWA) analysis was performed using two case–control cohorts genotyped with the Affymetrix Mapping 500K Array or Genome-Wide Human SNP Array 6.0. In each of the two array cohorts, stringent quality control (QC) filters were applied to newly obtained genotype data,(More)
AIM Brain metastasis from ovarian cancer is a very rare phenomenon. BRCA1-related ovarian cancers show specific pathobiological profiles, advanced stage, and sensitivity to chemotherapeutic agents. However, no clear relationship to any known metastatic behavior has yet been found, so we examined the BRCA1 mutation and expression profiles in ovarian cancer(More)
Our previous genome-wide association study has demonstrated that single-nucleotide polymorphisms (SNPs) located in intronic and downstream regions of IL1A (interleukin 1α) were associated with the risk of endometriosis. These SNPs on the genome-wide association study platform could be only surrogates for the true causal variant. Thus, we resequenced all the(More)
BACKGROUND Endometriotic cells display invasive characteristics, despite their benign histological appearance. Recently, the epithelial-mesenchymal transition, in which epithelial cells acquire mesenchymal and migratory properties, has attracted attention as a mechanism of tumor invasion. We aimed to investigate the association between endometriosis and(More)
AIM The purpose of this study was to report the 3-year experience of a nationwide demonstration project to introduce non-invasive prenatal testing (NIPT) of maternal plasma for aneuploidy, and review the current status of NIPT in Japan. METHODS Tests were conducted to detect aneuploidy in high-risk pregnant women, and adequate genetic counseling was(More)
We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed that both her and boy's LICAM gene had a(More)
This study aimed to investigate the impact of placental migration on the definitive prepartum diagnosis of patients with placenta previa (PP) and low-lying placenta (LLP) after late preterm. This was a retrospective cohort study of singleton pregnancies with PP and LLP diagnosed at 30–33 weeks of gestation. We assessed the rate of changes in transvaginal(More)