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GWAS Study

Genome-wide association reveals a locus in neuregulin 3 associated with gabapentin efficacy in women with chronic pelvic pain.

Mackenzie SC, Rahmioglu N, Romaniuk L et al.

39258169 PubMed ID
GWAS Study Type
71 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MS
Mackenzie SC
RN
Rahmioglu N
RL
Romaniuk L
CF
Collins F
CL
Coxon L
WH
Whalley HC
VK
Vincent K
ZK
Zondervan KT
HA
Horne AW
WL
Whitaker LHR
Chapter II

Abstract

Summary of the research findings

Chronic pelvic pain (CPP) in women with no obvious pelvic pathology has few evidence-based treatment options. Our recent multicenter randomized controlled trial (GaPP2) in women with CPP and no obvious pelvic pathology showed that gabapentin did not relieve pain overall and was associated with more side effects than placebo. We conducted an exploratory genome-wide association study using eligible GaPP2 participants aiming to identify genetic variants associated with gabapentin response. One genome-wide significant association with gabapentin analgesic response was identified, rs4442490, an intron variant located in Neuregulin 3 (NRG3) (p = 2·11×10-8; OR = 18·82 (95% CI 4·86-72·83). Analysis of a large sample of UK Biobank participants demonstrated phenome-wide significant brain imaging features of rs4442490, particularly implicating the orbitofrontal cortex. NRG3 is expressed predominantly in central nervous system tissues and plays a critical role in nervous system development, maintenance, and repair, suggesting a neurobiologically plausible role in gabapentin efficacy and potential for personalized analgesic treatment.

29 European ancestry responder cases, 42 European ancestry non-responder cases

Chapter III

Study Statistics

Key metrics and study information

71
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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