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a genome-wide association study of female sexual dysfunction女性性功能障碍的全基因组关联研究
A Genome-Wide Association Study of Female Sexual
Dysfunction
1,2 2 3 1 2
Andrea Burri *, Pirro Hysi , Alex Clop , Qazi Rahman , Tim D. Spector
1 Biological and Experimental Psychology Group, School of Biological and Chemical Sciences, Queen Mary University of London, London, United Kingdom, 2 Department
of Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom, 3 Department of Medical and Molecular Genetics, School of Medicine,
King’s College London, London, United Kingdom
Abstract
Background: Female sexual dysfunction (FSD) is an important but controversial problem with serious negative impact on
women’s quality of life. Data from twin studies have shown a genetic contribution to the development and maintenance of
FSD.
Methodology/Principal Findings: We performed a genome-wide association study (GWAS) on 2.5 million single-nucleotide
polymorphisms (SNPs) in 1,104 female twins (25–81 years of age) in a population-based register and phenotypic data on
lifelong sexual functioning. Although none reached conventional genome-wide level of significance (10 6-8), we found
strongly suggestive associations with the phenotypic dimension of arousal (r P = 1.261027; rs1876525,
P = 1.2 61027; and r P = 8.3 61027) on chromosome 6, around 500kb upstream of the locus HTR1E (5-
hydroxytryptamine receptor 1E) locus, related to the serotonin brain pathways. We could not replicate previously reported
candidate SNPs associated with FSD in the DRD4, 5HT2A and IL-1B loci.
Conclusions/Significance: We report the first GWAS of FSD symptoms in humans. This has pointed to several ‘‘risk alleles’’
and the implication of the serotonin and GABA pa
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