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Identification of rare genetic variants in the PCDH genetic family in a cohort of transgender women.
Theisen, John G; Chorich, Lynn P; Xu, Hongyan; Knight, James; Kim, Hyung-Goo; Layman, Lawrence C.
Afiliación
  • Theisen JG; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia. Electronic address: jtheisen@augusta.edu.
  • Chorich LP; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
  • Xu H; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia.
  • Knight J; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; Yale Center for Genome Analysis, Yale University, New Haven, Connecticut.
  • Kim HG; Department of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, New Jersey, New Jersey.
  • Layman LC; Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia; Departm
F S Sci ; 5(3): 283-292, 2024 Aug.
Article en En | MEDLINE | ID: mdl-38942387
ABSTRACT

OBJECTIVE:

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.

DESIGN:

Exome sequencing and functional ontology analysis.

SETTING:

Outpatient gender health and reproductive endocrinology clinics. PATIENT(S) A total of 24 TGW and 22 cisgender men (CM). INTERVENTION(S) Exome sequencing followed by variant confirmation through Sanger sequencing and functional classification analysis using the Database for Annotation, Visualization, and Integrated Discovery tool. MAIN OUTCOME MEASURE(S) Identification of rare, functionally significant genetic variants in the PCDH gene family and their prevalence in TGW compared with CM. RESULT(S) Exome sequencing revealed 38,524 genetic variants, of which 2,441 were rare and predicted to be functionally significant. 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. A total of 37 rare variants in 21 PCDH genes were identified, with 36 confirmed using Sanger sequencing. A statistically significant increase in these variants was observed in TGW compared with CM (Z = 2.08905). CONCLUSION(S) Transgender women exhibited a greater than threefold increase in functionally significant PCDH gene variants compared with CM. These findings suggest that the PCDH family may play a role in the genetic pathways associated with gender identity in TGW.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Cadherinas / Personas Transgénero Límite: Adult / Female / Humans / Male Idioma: En Revista: F S Sci Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Cadherinas / Personas Transgénero Límite: Adult / Female / Humans / Male Idioma: En Revista: F S Sci Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos