A Common Polymorphism of the SRD5A2 Gene is Not Associated With Male-to-Female and Female-to-Male Transsexualism
NCT ID: NCT00435513
Last Updated: 2015-05-05
Study Results
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Basic Information
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COMPLETED
1770 participants
OBSERVATIONAL
2007-03-31
2008-07-31
Brief Summary
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Detailed Description
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Objective: To assess the association between transsexualism and allele and genotype frequencies of the steroid 5-alpha reductase (SRD5A2) Val89Leu polymorphism.
Design and Patients: We performed a case-control study of 100 male-to-female (MtF) transsexuals, 47 female-to-male (FtM) transsexuals, 755 male controls, and 915 female controls. DNA was extracted from buccal swabs and genotypes were determined by polymerase chain reaction.
Results: SRD5A2 Val89Leu allele frequencies (SRD5A2 V: 137/200 \[69%\] and SRD5A2 L: 63/200 \[31%\] vs. SRD5A2 V: 1065/1510 \[71%\] and SRD5A2 L: 445/1510 \[29%\], respectively; p=0.6; Odds Ratio \[OR\] 1.10; 95% Confidence Interval \[CI\] 0.76-1.58) and genotype distributions (SRD5A2 V/V+V/L: 92/100 \[92%\] and L/L 8/100 \[8%\] vs. SRD5A2 V/V+V/L: 683/755 \[91%\] and L/L 72/755 \[9%\], respectively, p=0.7; OR 0.82; 95% CI 0.24-2.84) were not significantly different between MtF transsexuals and male controls. SRD5A2 Val89Leu allele frequencies (SRD5A2 V: 70/94 \[74%\] and SRD5A2 L: 24/94 \[26%\] vs. SRD5A2 V: 1253/1830 \[69%\] and SRD5A2 L: 573/1830 \[31%\], respectively; p=0.3; OR 0.75; 95% CI 0.45-1.26) and genotype distributions (SRD5A2 V/V+V/L: 44/47 \[93%\] and L/L 3/47 \[7%\] vs. SRD5A2 V/V+V/L: 823/915 \[90%\] and L/L 92/915 \[10%\], respectively, p=0.6; OR 0.61; 95% CI 0.11-3.32) were also not significantly different between FtM transsexuals and female controls. Of note, there was no gender-specific genotype distribution among controls.
Conclusions: The SRD5A2 Val89Leu polymorphism is not associated with transsexualism and is no candidate gene of this condition.
Conditions
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Study Design
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CASE_CONTROL
RETROSPECTIVE
Study Groups
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Transsexual group
Female-to-male and male-to-female transsexuals
No interventions assigned to this group
Controls
Healthy blood donors
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Exclusion Criteria
18 Years
80 Years
ALL
Yes
Sponsors
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Medical University of Vienna
OTHER
Responsible Party
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Clemens Tempfer
Prof. Clemens Tempfer, MD
Principal Investigators
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Clemens B Tempfer, MD
Role: PRINCIPAL_INVESTIGATOR
Univ. of Vienna
Locations
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University of Vienna, Vienna, Austria
Vienna, Vienna, Austria
Countries
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Other Identifiers
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000001
Identifier Type: -
Identifier Source: org_study_id
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