The <it>INSIG2 </it>rs7566605 polymorphism is not associated with body mass index and breast cancer risk

• Main Authors: Sala Núria, Chirlaque María, Lund Eiliv, Bueno-de-Mesquita H, van Gils Carla H, Onland-Moret N Charlotte, Tumino Rosario, Panico Salvatore, Sacerdote Carlotta, Krogh Vittorio, Masala Giovanna, Boeing Heiner, Fisher Eva, Teucher Birgit, Oustoglou Erifili, Rohrmann Sabine, Zylis Dimosthenis, Trichopoulou Antonia, Fagherazzi Guy, Chabbert-Buffet Nathalie, Clavel-Chapelon Françoise, Stegger Jakob, Overvad Kim, Tjønneland Anne, Vogel Ulla, Sinilnikova Olga, McKay James D, Hüsing Anika, Campa Daniele, Quirós José, Ardanaz Eva, Amiano Pilar, Molina-Montes Esther, Hallmans Göran, Lenner Per, Travis Ruth C, Key Timothy J, Wareham Nick, Khaw Kay-Tee, Rinaldi Sabina, Slimani Nadia, Chajes Veronique, Siddiq Afshan, Riboli Elio, Kaaks Rudolf, Canzian Federico
• Format: Article
• Language: English
• Published: BMC 2010-10-01
• Series: BMC Cancer
• Online Access: http://www.biomedcentral.com/1471-2407/10/563

<p>Abstract</p> <p>Background</p> <p>The single nucleotide polymorphism rs7566605, located in the promoter of the <it>INSIG2 </it>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).</p> <p>Methods</p> <p>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.</p> <p>Results and Conclusions</p> <p>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.</p>