The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan.

The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan. - The research for the frequency of sex chromosome genome variants and the gene variants associated with sex development, and phenotype of carriers with the variants in Japan.

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

JPRN

Registry ID

JPRN-UMIN000032145

Enrollment

3344

Registered

2018-04-07

Start date

2018-04-09

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

disorders of sex development

Interventions

None listed

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: We will use the 3.5KJPN whole genome reference panel (3344 individuals) and their questionnaires of the Tohoku Medical Megabank Project. The subjects were selected from the participants of the resident cohort study, and then the genomic DNA of the 3344 individuals obtained from peripheral blood samples was subjected to paired-end sequencing using the Illumina HiSeq 2500 platform.

Exclusion criteria

Exclusion criteria: Not applicable

Design outcomes

Primary

Measure	Time frame
The frequencies and the phenotype of pathogenic variants related to disorders of sex development in the Japanese population.	—

Countries

Japan

Contacts

Public ContactJunichi Sugawara

Tohoku Medical Megabank organization Department of Community Medical Supports

jsugawara@med.tohoku.ac.jp0227236283

Outcome results