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Regulatory VCAN polymorphism is associated with shoulder pain and disability in breast cancer survivors.
Mafu, Trevor S; September, Alison V; Shamley, Delva.
Afiliação
  • Mafu TS; Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • September AV; Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Shamley D; International Federation of Sports Medicine (FIMS) Collaborative Centre of Sports Medicine, ESSM, University of Cape Town, Cape Town, South Africa.
Hum Genomics ; 15(1): 36, 2021 06 23.
Article em En | MEDLINE | ID: mdl-34162438
BACKGROUND AND PURPOSE: Shoulder morbidity following breast cancer treatment is multifactorial. Despite several treatment- and patient-related factors being implicated, unexplained inter-individual variability exists in the development of such morbidity. Given the paucity of relavant genetic studies, we investigate the role of polymorphisms in candidate proteoglycan genes. PATIENTS AND METHODS: We conducted a cross-sectional study on 254 South African breast cancer survivors, to evaluate associations between shoulder pain/disability and ten single nucleotide polymorphisms (SNPs) within four proteoglycan genes: ACAN (rs1126823 G>A, rs1516797 G>T, rs2882676 A>C); BGN (rs1042103 G>A, rs743641 A>T, rs743642 G>T); DCN rs516115 C>T; and VCAN (rs11726 A>G, rs2287926 G>A, rs309559). Participants were grouped into no-low and moderate-high shoulder pain/disability based on total pain/disability scores: < 30 and ≥ 30, respectively using the Shoulder Pain and Disability Index (SPADI). RESULTS: The GG genotype of VCAN rs11726 was independently associated with an increased risk of being in the moderate-to-high shoulder pain (P = 0.005, OR = 2.326, 95% CI = 1.259-4.348) or disability (P = 0.011, OR = 2.439, 95% CI = 1.235-4.762) categories, after adjusting for participants' age. In addition, the T-T-G inferred allele combination of BGN (rs74364-rs743642)-VCAN rs11726 was associated with an increased risk of being in the moderate-to-high shoulder disability category (0 = 0.002, OR = 2.347, 95% CI = 1.215-4.534). CONCLUSION: Our study is first to report that VCAN rs11726, independently or interacting with BGN polymorphisms, is associated with shoulder pain or disability in breast cancer survivors. Whereas our findings suggest an involvement of proteoglycans in the etiology of shoulder pain/disability, further studies are recommended.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / Dor de Ombro / Predisposição Genética para Doença / Versicanas Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Mama / Dor de Ombro / Predisposição Genética para Doença / Versicanas Tipo de estudo: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article