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

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

doi:10.1186/1744-8069-8-72

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

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

^*Corresponding author for this work

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Abstract

Background: Mutations in SCN9A, encoding the alpha subunit of the voltage-gated sodium channel (Na_v1.7), 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.

Original language	English
Article number	72
Number of pages	5
Journal	Molecular Pain
Volume	8
Early online date	1 Jan 2012
DOIs	https://doi.org/10.1186/1744-8069-8-72
Publication status	Published - 24 Sept 2012

Bibliographical note

Acknowledgements
The authors wish to thank all of the primary care practices and participants in the EPIFUND study, the EPIFUND study team and Arthritis Research UK lab staff for carrying out the genotyping. The authors thank the men who participated in the seven countries and the research/nursing staff in the seven centres of the EMAS study used in the current analysis: C Pott
(Manchester), E Wouters (Leuven), M del Mar Fernandez (Santiago de Compostela), M Jedrzejowska (Lodz), H-M Tabo (Tartu) and A Heredi (Szeged) for their data collection, and C Moseley (Manchester) for data entry and project coordination. DV and SB are senior clinical investigators of the Fund for Scientific Research-Flanders, Belgium (F W O-Vlaanderen). SB is holder of the Leuven University Chair in Gerontology and Geriatrics. The researchers thank the Framingham study participants and personnel. This work was supported by Arthritis Research UK, Chesterfield, UK. The European Male Ageing Study (EMAS) is funded by the Commission of the European Communities Fifth Framework Programme ‘Quality of life and management of living resources’ grant QLK6-CT-2001-00258. Genotyping of the Dyne Steel DNA Bank for Ageing and Cognition cohort was supported by the BBSRC and the study was supported by AgeUK. The Framingham study was supported by grants from the National Heart, Lung, and Blood Institute (NHLBI contract N01-HC-25195) and NIH AR47785 and AG18393.

Keywords

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

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The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility
© 2012 Holliday et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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Cite this

Holliday, K. L., Thomson, W., Neogi, T., Felson, D. T., Wang, K., Wu, F. C., Huhtaniemi, I. T., Bartfai, G., Casanueva, F., Forti, G., Kula, K., Punab, M., Vanderschueren, D., Macfarlane, G. J., Horan, M. A., Ollier, W., Payton, A., Pendleton, N., & McBeth, J. (2012). The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility. Molecular Pain, 8, Article 72. https://doi.org/10.1186/1744-8069-8-72

Holliday, KL, Thomson, W, Neogi, T, Felson, DT, Wang, K, Wu, FC, Huhtaniemi, IT, Bartfai, G, Casanueva, F, Forti, G, Kula, K, Punab, M, Vanderschueren, D, Macfarlane, GJ, Horan, MA, Ollier, W, Payton, A, Pendleton, N & McBeth, J 2012, 'The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility', Molecular Pain, vol. 8, 72. https://doi.org/10.1186/1744-8069-8-72

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

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.",

keywords = "Chronic widespread pain, Population-based cohorts, Single nucleotide polymorphism, Voltage-gated sodium channel",

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

note = "Acknowledgements The authors wish to thank all of the primary care practices and participants in the EPIFUND study, the EPIFUND study team and Arthritis Research UK lab staff for carrying out the genotyping. The authors thank the men who participated in the seven countries and the research/nursing staff in the seven centres of the EMAS study used in the current analysis: C Pott (Manchester), E Wouters (Leuven), M del Mar Fernandez (Santiago de Compostela), M Jedrzejowska (Lodz), H-M Tabo (Tartu) and A Heredi (Szeged) for their data collection, and C Moseley (Manchester) for data entry and project coordination. DV and SB are senior clinical investigators of the Fund for Scientific Research-Flanders, Belgium (F W O-Vlaanderen). SB is holder of the Leuven University Chair in Gerontology and Geriatrics. The researchers thank the Framingham study participants and personnel. This work was supported by Arthritis Research UK, Chesterfield, UK. The European Male Ageing Study (EMAS) is funded by the Commission of the European Communities Fifth Framework Programme {\textquoteleft}Quality of life and management of living resources{\textquoteright} grant QLK6-CT-2001-00258. Genotyping of the Dyne Steel DNA Bank for Ageing and Cognition cohort was supported by the BBSRC and the study was supported by AgeUK. The Framingham study was supported by grants from the National Heart, Lung, and Blood Institute (NHLBI contract N01-HC-25195) and NIH AR47785 and AG18393. ",

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doi = "10.1186/1744-8069-8-72",

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T1 - The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility

AU - Holliday, Kate L.

AU - Thomson, Wendy

AU - Neogi, Tuhina

AU - Felson, David T.

AU - Wang, Ke

AU - Wu, Frederick C.

AU - Huhtaniemi, Ilpo T.

AU - Bartfai, Gyorgy

AU - Casanueva, Felipe

AU - Forti, Gianni

AU - Kula, Krzysztof

AU - Punab, Margus

AU - Vanderschueren, Dirk

AU - Macfarlane, Gary J.

AU - Horan, Michael A.

AU - Ollier, William

AU - Payton, Antony

AU - Pendleton, Neil

AU - McBeth, John

N1 - Acknowledgements The authors wish to thank all of the primary care practices and participants in the EPIFUND study, the EPIFUND study team and Arthritis Research UK lab staff for carrying out the genotyping. The authors thank the men who participated in the seven countries and the research/nursing staff in the seven centres of the EMAS study used in the current analysis: C Pott (Manchester), E Wouters (Leuven), M del Mar Fernandez (Santiago de Compostela), M Jedrzejowska (Lodz), H-M Tabo (Tartu) and A Heredi (Szeged) for their data collection, and C Moseley (Manchester) for data entry and project coordination. DV and SB are senior clinical investigators of the Fund for Scientific Research-Flanders, Belgium (F W O-Vlaanderen). SB is holder of the Leuven University Chair in Gerontology and Geriatrics. The researchers thank the Framingham study participants and personnel. This work was supported by Arthritis Research UK, Chesterfield, UK. The European Male Ageing Study (EMAS) is funded by the Commission of the European Communities Fifth Framework Programme ‘Quality of life and management of living resources’ grant QLK6-CT-2001-00258. Genotyping of the Dyne Steel DNA Bank for Ageing and Cognition cohort was supported by the BBSRC and the study was supported by AgeUK. The Framingham study was supported by grants from the National Heart, Lung, and Blood Institute (NHLBI contract N01-HC-25195) and NIH AR47785 and AG18393.

PY - 2012/9/24

Y1 - 2012/9/24

N2 - 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.

AB - 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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KW - Population-based cohorts

KW - Single nucleotide polymorphism

KW - Voltage-gated sodium channel

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DO - 10.1186/1744-8069-8-72

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JO - Molecular Pain

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M1 - 72

ER -

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

Abstract

Bibliographical note

Keywords

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