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

Daniele Campa, Anika Hüsing, James D. McKay, Olga Sinilnikova, Ulla Vogel, Anne Tjønneland, Kim Overvad, Jakob Stegger, Françoise Clavel-Chapelon, Nathalie Chabbert-Buffet, Guy Fagherazzi, Antonia Trichopoulou, Dimosthenis Zylis, Erifili Oustoglou, Sabine Rohrmann, Birgit Teucher, Eva Fisher, Heiner Boeing, Giovanna Masala, Vittorio KroghCarlotta Sacerdote, Salvatore Panico, Rosario Tumino, N. Charlotte Onland-Moret, Carla H. van Gils, H. B. Bueno-de-Mesquita, Eiliv Lund, María D. Chirlaque, Núria Sala, José R. Quirós, Eva Ardanaz, Pilar Amiano, Esther Molina-Montes, Göran Hallmans, Per Lenner, Ruth C. Travis, Timothy J. Key, Nick Wareham, Kay Tee Khaw, Sabina Rinaldi, Nadia Slimani, Veronique Chajes, Afshan Siddiq, Elio Riboli, Rudolf Kaaks, Federico Canzian*

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

10 Citations (Scopus)


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.

Original languageEnglish
Article number563
JournalBMC Cancer
Publication statusPublished - 18 Oct 2010
Externally publishedYes


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