Multivariate Genetic Analysis of Chronic Pelvic Pain and Associated Phenotypes

Krina T Zondervan, Lon R Cardon, Stephen H Kennedy, Stephen Kennedy, Nicholas G Martin, Susan A Treloar
Behavior genetics · 2005 · vol. 35(2) , pp. 177–188 · doi:10.1007/s10519-004-1017-6 · PMID:15685430 · W2016655153
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This study found chronic pelvic pain has 41% heritability, with genetic variance explained by endometriosis, dysmenorrhea, fibroids, and somatic distress.

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The paper investigated the heritability of chronic pelvic pain (CPP) and used a multivariate twin design to determine whether shared genetic influences with related phenotypes could explain CPP variation. Using 623 monozygotic and 377 dizygotic female twin pairs (ages 29–50) from an Australian cohort, the authors found higher CPP concordance in monozygotic than dizygotic twins, estimating CPP heritability at 0.41, with environmental indicator correlations suggesting that violation of the equal environments assumption was not driving the result. Multivariate Cholesky decomposition models indicated that the genetic variance underlying CPP was attributable to genetic variance shared with endometriosis (38%), dysmenorrhoea (23%), fibroids (24%), and somatic distress (15%), described as possibly reflecting increased nociception, and they caution that CPP is unlikely to be a useful independent phenotype for genetic etiological studies. Relevance to endometriosis: the study quantifies the CPP heritability component explained by genetic variance underlying endometriosis (38%) as part of its multivariate analysis, though its main focus is genetic architecture of CPP using twin modeling.

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Abstract

Chronic pelvic pain (CPP) is a common condition in women that is difficult to diagnose. Although heritability estimates have been published for some conditions potentially underlying pelvic pain, the heritability of CPP itself has never been investigated. Using data from 623 MZ and 377 DZ female twin pairs aged 29–50 from an Australian twin cohort, we found an increased CPP concordance among MZs compared to DZs, with tetrachoric correlations of 0.43 (95% CI: 0.26–0.58) and 0.11 (95% CI: –0.16–0.38), respectively. This corresponded to a heritability of 0.41 (95% CI: 0.25–0.56). Lack of correlations with environmental indicators suggested that violation of the equal environments assumption was not responsible for this effect. Multivariate Cholesky decomposition models incorporating CPP and significantly correlated phenotypes showed that the entire CPP heritability could be explained by genetic variance underlying endometriosis (38%), dysmenorrhoea (23%), fibroids (24%), and somatic distress (15%), the latter a possible indicator of increased nociception. CPP itself is unlikely to be a useful independent phenotype to conduct genetic aetiological studies; contributing conditions such as endometriosis and variation in nociception are likely to provide more useful phenotypes. Similar content being viewed by others

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Pract. 51 541–547 Occurrence Handle1:STN:280:DC%2BD3MvhtlGqsA%3D%3D Author information Authors and Affiliations Corresponding author Rights and permissions About this article Cite this article Zondervan, K.T., Cardon, L.R., Kennedy, S.H. et al. Multivariate Genetic Analysis of Chronic Pelvic Pain and Associated Phenotypes . Behav Genet 35, 177–188 (2005). https://doi.org/10.1007/s10519-004-1017-6 Received: Accepted: Issue date: DOI: https://doi.org/10.1007/s10519-004-1017-6

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chronic_pelvic_pain

MeSH descriptors

Pelvic Pain Adult Analysis of Variance Chronic Disease Female Humans Models, Genetic Multivariate Analysis Pelvic Pain Phenotype Twins, Dizygotic Twins, Monozygotic

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