TY - JOUR T1 - <em>TRPM8</em> polymorphisms associated with increased risk of IBS-C and IBS-M JF - Gut JO - Gut SP - 1725 LP - 1727 DO - 10.1136/gutjnl-2016-313346 VL - 66 IS - 9 AU - Maria Henström AU - Fatemeh Hadizadeh AU - Arthur Beyder AU - Ferdinando Bonfiglio AU - Tenghao Zheng AU - Ghazaleh Assadi AU - Joseph Rafter AU - Luis Bujanda AU - Lars Agreus AU - Anna Andreasson AU - Aldona Dlugosz AU - Greger Lindberg AU - Peter T Schmidt AU - Pontus Karling AU - Bodil Ohlsson AU - Nicholas J Talley AU - Magnus Simren AU - Susanna Walter AU - Mira Wouters AU - Gianrico Farrugia AU - Mauro D'Amato Y1 - 2017/09/01 UR - http://gut.bmj.com/content/66/9/1725.abstract N2 - Recently in Gut, genetic variation affecting ion channels activity has been highlighted in relation to bowel function and the biology of stool frequency.1 It is also known that 2% of patients with IBS carry functional missense mutations in the voltage-gated channel NaV1.5 (SCN5A gene).2 Hence, channelopathies represent potential abnormalities underlying GI dysfunction and IBS. We inspected data from our previous genome-wide association study (GWAS) of IBS,3 in relation to 27 genes whose ion channel products contribute to GI sensorimotor development and function, visceral sensation and GI motility (see online supplementary table S1). Significant (uncorrected) results were detected for four genes (calcium voltage-gated channels CACNA1A and CACNA1E, and transient receptor potential channels TRPV3 and TRPM8; see online supplementary figure S1), which were selected for replication analyses in an independent set of IBS cases (N=386) and controls (N=357) (see online supplementary material methods). A sex-adjusted logistic regression analysis of genotype data from this cohort (see online supplementary material methods) detected significant associations for … ER -