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

Kate L Holliday1*, Wendy Thomson1, Tuhina Neogi2, David T Felson12, Ke Wang2, Frederick C Wu3, Ilpo T Huhtaniemi4, Gyorgy Bartfai5, Felipe Casanueva6, Gianni Forti7, Krzysztof Kula8, Margus Punab9, Dirk Vanderschueren10, Gary J Macfarlane11, Michael A Horan12, William Ollier13, Antony Payton13, Neil Pendleton12 and John McBeth1

Author Affiliations

1 Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK

2 Section of Clinical Epidemiology Research and Training Unit, Boston University School of Medicine, Boston, Massachusetts, USA

3 Andrology Research Unit, Developmental & Regenerative Biomedicine Research Group, University of Manchester, Manchester, UK

4 Department of Surgery and Cancer, Imperial College London, London, UK

5 Department of Obstetrics, Gynaecology and Andrology, Albert Szent-Gyorgy Medical University, Szeged, Hungary

6 Department of Medicine, Santiago de Compostela University, Complejo Hospitalario Universitario de Santiago (CHUS), CIBER de Fisiopatología Obesidad y Nutricion (CB06/03), Instituto Salud Carlos III, Santiago de Compostela, Spain

7 Andrology Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy

8 Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland

9 Andrology Unit, United Laboratories of Tartu University Clinics, Tartu, Estonia

10 Department of Andrology and Endocrinology, Katholieke Universiteit Leuven, Leuven, Belgium

11 Aberdeen Pain Research Collaboration (Epidemiology Group), University of Aberdeen, Aberdeen, UK

12 Clinical Gerontology, Hope Hospital, University of Manchester, Manchester, UK

13 Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK

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Molecular Pain 2012, 8:72  doi:10.1186/1744-8069-8-72

Published: 24 September 2012



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.


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).


In contrast to a previous study, no association between a non-synonymous polymorphism in SCN9A and CWP was observed in multiple population-based cohorts.

Chronic widespread pain; Single nucleotide polymorphism; Voltage-gated sodium channel; Population-based cohorts