The INSIG2 rs7566605 polymorphism is not associated with body mass index and breast cancer risk

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Campa, D 
Hüsing, A 
McKay, JD 
Sinilnikova, O 
Vogel, U 

Abstract Background The single nucleotide polymorphism rs7566605, located in the promoter of the INSIG2 gene, has been the subject of a strong scientific effort aimed to elucidate its possible association with body mass index (BMI). The first report showing that rs7566605 could be associated with body fatness was a genome-wide association study (GWAS) which used BMI as the primary phenotype. Many follow-up studies sought to validate the association of rs7566605 with various markers of obesity, with several publications reporting inconsistent findings. BMI is considered to be one of the measures of choice to evaluate body fatness and there is evidence that body fatness is related with an increased risk of breast cancer (BC). Methods we tested in a large-scale association study (3,973 women, including 1,269 invasive BC cases and 2,194 controls), nested within the EPIC cohort, the involvement of rs7566605 as predictor of BMI and BC risk. Results and Conclusions In this study we were not able to find any statistically significant association between this SNP and BMI, nor did we find any significant association between the SNP and an increased risk of breast cancer overall and by subgroups of age, or menopausal status.

4203 Health Services and Systems, 32 Biomedical and Clinical Sciences, 42 Health Sciences, 3211 Oncology and Carcinogenesis, Breast Cancer, Nutrition, Prevention, Cancer, Genetics, Aging, Clinical Research, Obesity, 2 Aetiology, 2.1 Biological and endogenous factors, Cancer, Adipose Tissue, Adult, Aged, Body Mass Index, Breast Neoplasms, Case-Control Studies, Cohort Studies, Female, Genome-Wide Association Study, Genotype, Humans, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Middle Aged, Models, Genetic, Neoplasm Invasiveness, Polymorphism, Genetic, Risk
Journal Title
BMC Cancer
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Springer Nature
Medical Research Council (MC_UU_12015/1)
Medical Research Council (G0401527)
Medical Research Council (MC_U106179471)