Polymorphism in the SCN9A Voltage-Gated Sodium Channel Gene Associated With Interstitial Cystitis/Bladder Pain Syndrome - 27/12/12
, Timothy K. Byler a, David C. Foster d, Steve K. Landas b, Henry Okafor a, Gillian Stearns a, Ronald W. Wood c, d, Yachao Zhang a, Robert D. Mayer c
Reprint requests: Jay E. Reeder, Ph.D., Department of Urology, State University of New York Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210.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.
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| Financial Disclosure: The authors declare that they have no relevant financial interests. |
Vol 81 - N° 1
P. 210.e1-210.e4 - janvier 2013 Retour au numéro
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