Polymorphism in the SCN9A voltage-gated sodium channel gene associated with interstitial cystitis/bladder pain syndrome - Abstract

OBJECTIVE: To determine whether an association exists between interstitial cystitis/bladder pain syndrome (IC/BPS) and a nonsynonymous single nucleotide polymorphism in the SCN9A voltage-gated sodium channel gene previously associated with other chronic pain syndromes.

MATERIALS AND METHODS: Germline deoxyribonucleic acid was sampled from archived bladder biopsy specimens from patients with a documented diagnosis of IC/BPS. Deoxyribonucleic acid from hysterectomy specimens was obtained as a control population. The genotype of single nucleotide polymorphism rs6746030 was determined by deoxyribonucleic acid sequencing after polymerase chain reaction amplification. Contingency analysis of genotypes was performed using Pearson's chi-square test and Fisher's exact test.

RESULTS: Polymerase chain reaction product was obtained from 26 of 31 control specimens and from 53 of 57 IC/BPS biopsy specimens. Of the 26 control subjects, 3 (11.5%) were genotype AG and 23 were GG. In contrast, AA or AG genotypes were present in 21 of 53 (39.6%) patients with IC/BPS, a statistically significant difference compared with the controls (Pearson's chi-square, P = .036). Similarly, the A allele was at a greater frequency in the IC/BPS group using Fisher's exact test (P = .009).

CONCLUSION: These data strongly suggest that pain perception in at least a subset of patients with IC/BPS is influenced by this polymorphism in the SCN9A voltage-gated sodium channel.

Written by:
Reeder JE, Byler TK, Foster DC, Landas SK, Okafor H, Stearns G, Wood RW, Zhang Y, Mayer RD.   Are you the author?
Department of Urology, State University of New York Upstate Medical University, Syracuse, New York; Department of Obstetrics and Gynecology, University of Rochester, Rochester, New York.

Reference: Urology. 2013 Jan;81(1):210.e1-4.
doi: 10.1016/j.urology.2012.07.072


PubMed Abstract
PMID: 23102778

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