Molecular Pain (Sep 2012)

The non-synonymous SNP, R1150W, in <it>SCN9A</it> is not associated with chronic widespread pain susceptibility

  • Holliday Kate L,
  • Thomson Wendy,
  • Neogi Tuhina,
  • Felson David T,
  • Wang Ke,
  • Wu Frederick C,
  • Huhtaniemi Ilpo T,
  • Bartfai Gyorgy,
  • Casanueva Felipe,
  • Forti Gianni,
  • Kula Krzysztof,
  • Punab Margus,
  • Vanderschueren Dirk,
  • Macfarlane Gary J,
  • Horan Michael A,
  • Ollier William,
  • Payton Antony,
  • Pendleton Neil,
  • McBeth John

DOI
https://doi.org/10.1186/1744-8069-8-72
Journal volume & issue
Vol. 8, no. 1
p. 72

Abstract

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Abstract Background Mutations in SCN9A, encoding the alpha subunit of the voltage-gated sodium channel (Nav1.7), have caused severe pain disorders and congenital insensitivity to pain. The aim of this study was to validate the previously reported association between a common non-synonymous polymorphism (R1150W, rs6746030) in SCN9A and chronic widespread pain (CWP), in independent population-based cohorts. Findings Genotype data for rs6746030 was available in four population-based cohorts (EPIFUND, the European Male Ageing Study (EMAS), the Framingham study and the Dyne Steel DNA Bank of Ageing and Cognition). Pain was assessed using body manikins and CWP was scored using American College of Rheumatology (ACR) criteria in all cohorts, except the Framingham study which assessed widespread pain (WP) using ACR criteria on a joint pain homunculus. Controls were subjects who reported no pain. Logistic regression (additive genetic model) was used to test for association between rs6746030 and CWP compared to controls, adjusting for study centre in EMAS. Generalised estimating equation regression was used to test for association between rs6746030 and WP, whilst accounting for relatedness between subjects in the Framingham study. Genotype data for rs6746030 was available for 1071 CWP cases and 3212 controls. There was no significant association between CWP and rs6476030 in individual cohorts or when combined in a fixed-effects meta-analysis (Odds Ratio = 0.96 (95% confidence interval 0.82, 1.11) p = 0.567). Conclusions In contrast to a previous study, no association between a non-synonymous polymorphism in SCN9A and CWP was observed in multiple population-based cohorts.

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