selecting DNA targets for a transgender gene panel

This is a work in progress…

Introduction

There are several genes that some researchers believe are correlated with gender dysphoria and transsexualism. Please see my earlier work discussing some of these genes at “the science of gender identity (part 1: genetics)“.

In particular, there are single-nucleotide polymorphisms (SNPs) and variations in tandem repeat length in these genes that have been identified. I am therefore designing a targeted DNA sequencing panel for investigating whether a person has any of these variations.

Started with DisGeNET 3.0, 4.0 and 5.0

DisGeNET [1] provides scored relationships between diseases and genes (not that trans stuff is a disease!) based on, among other things, text mining of the literature. Fortunately they also report PubMed IDs for the papers providing evidence of a given gene’s connection to a disease, which allows me to begin my literature search. The following graph and table shows the DisGeNET content I found related to the keywords “transsexualism”, and “gender”. (I allowed partial string matches in the search):

NCBI Gene Symbol NCBI Gene ID Condition PubMed ID Sentence
AR 367 Transsexualism 18962445 Androgen receptor repeat length polymorphism associated with male-to-female transsexualism.
COMT 1312 Gender disorders 17419009 Future studies on the COMT gene in mentally ill subjects should be stratified by clinical subtypes of the disorder, gender and ethnicity.
CYP17A1 1586 Transsexualism 17765230 A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female-to-male but not male-to-female transsexualism.
CYP19A1 1588 Transsexualism 15854782 However, binary logistic regression analysis revealed significant partial effects for all three polymorphisms, as well as for the interaction between the AR and aromatase gene polymorphisms, on the risk of developing transsexualism.
CYP19A1 1588 Transsexualism 18962445 No associations for transsexualism were evident in repeat lengths for CYP19 or ERbeta genes.
CYP19A1 1588 Transsexualism 25124466 Association study of ERβ, AR, and CYP19A1 genes and MtF transsexualism.
ESR2 2100 Transsexualism 24274329 The (CA)n polymorphism of ERβ gene is associated with FtM transsexualism.
ESR2 2100 Transsexualism 25124466 We investigated the association between genotype and transsexualism by performing a molecular analysis of three variable regions of genes ERβ, AR, and CYP19A1 in 915 individuals (442 MtFs and 473 control males).
HSD17B13 345275 Gender Dysphoria 23045263 Patients with 5α-reductase 2 (5α-RD2) and 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiencies exhibit the highest rates of gender dysphoria (incidence of up to 63%).
HSD17B3 3293 Gender Dysphoria 23045263 Patients with 5α-reductase 2 (5α-RD2) and 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiencies exhibit the highest rates of gender dysphoria (incidence of up to 63%).
HSD17B7 51478 Gender Dysphoria 23045263 Patients with 5α-reductase 2 (5α-RD2) and 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiencies exhibit the highest rates of gender dysphoria (incidence of up to 63%).
LITAF 9516 Transsexualism 1483176 As her twin sister had no sexual identity problems, it appears that transsexualism is not transmitted by a simple genetic mechanism.

References

  1. Janet Piñero, Àlex Bravo, Núria Queralt-Rosinach, Alba Gutiérrez-Sacristán, Jordi Deu-Pons, Emilio Centeno, Javier García-García, Ferran Sanz, Laura I. Furlong; DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. Nucleic Acids Res 2017; 45 (D1): D833-D839. doi: 10.1093/nar/gkw943
DIY brain anatomy: looking for transgender features (part 1)
increased my estrogen dose today

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