TY - JOUR AU - Tchou, Gregory D. AU - Wirka, Robert C. AU - Van Wagoner, David R. AU - Barnard, John AU - Chung, Mina K. AU - Smith, Jonathan D. PY - 2012 DA - 2012/11/07 TI - Low prevalence of connexin-40 gene variants in atrial tissues and blood from atrial fibrillation subjects JO - BMC Medical Genetics SP - 102 VL - 13 IS - 1 AB - The atrial gap junction protein connexin-40 (Cx40) has been implicated to play an important role in atrial conduction and development of atrial fibrillation (AF). However, the frequency of Cx40 mutations in AF populations and their impact on Cx40 expression remains unclear. In this study, we sought to identify polymorphisms in the Cx40 gene GJA5, investigate the potential functional role of these polymorphisms, and determine their allelic frequencies. The prevalence of nonsynonymous Cx40 mutations in blood and atrial tissue was also compared to mutation frequencies reported in prior studies. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-13-102 DO - 10.1186/1471-2350-13-102 ID - Tchou2012 ER -