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- Identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women.
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | No label defined |
No description defined |
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Statements
To study the identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women (TGW) and their potential role in gender identity. (English)
OBJECTIVE (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
Exome sequencing and functional ontology analysis. (English)
DESIGN (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
Outpatient gender health and reproductive endocrinology clinics. (English)
SETTING (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
A total of 24 TGW and 22 cisgender men (CM). (English)
PATIENT(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
Exome sequencing followed by variant confirmation through Sanger sequencing and functional classification analysis using the Database for Annotation, Visualization, and Integrated Discovery tool. (English)
INTERVENTION(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
Identification of rare, functionally significant genetic variants in the PCDH gene family and their prevalence in TGW compared with CM. (English)
MAIN OUTCOME MEASURE(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
Exome sequencing revealed 38,524 genetic variants, of which 2,441 were rare and predicted to be functionally significant. (English)
RESULT(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
The Database for Annotation, Visualization, and Integrated Discovery analysis demonstrated a statistically enriched functional group, "homophilic cell adhesion via plasma membrane adhesion molecules," containing 55 genes, including 18 PCDH gene family members. (English)
RESULT(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
A total of 37 rare variants in 21 PCDH genes were identified, with 36 confirmed using Sanger sequencing. (English)
RESULT(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
A statistically significant increase in these variants was observed in TGW compared with CM (Z = 2.08905). (English)
RESULT(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
Transgender women exhibited a greater than threefold increase in functionally significant PCDH gene variants compared with CM. (English)
CONCLUSION(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
These findings suggest that the PCDH family may play a role in the genetic pathways associated with gender identity in TGW. (English)
CONCLUSION(S) (English)
Copyright © 2024 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. (English)
2024
James (English)
Knight (English)
J
Hyung-Goo (English)
Kim (English)
HG
Lawrence C (English)
Layman (English)
LC
5 September 2024
31 August 2024