rs113832155 - UBXN6 - HDGFL2

Magnitude 4.5 · 1 study on file

Reported associations

• A common variant in ARHGEF10 alters delta-6 desaturase activity and influence susceptibility to hypertriglyceridemia. - Journal of clinical lipidology (2019) · de Toro-Martín J, Guénard F, Rudkowska I, Lemieux S, Couture P, Vohl MC · PubMed 29246731

  Numbers of single nucleotide polymorphisms (SNPs) associated with fatty acid desaturase activities have been previously identified within the FADS1-FADS2 gene cluster, which encodes delta-5 (D5D) and delta-6 (D6D) desaturases, respectively. We aimed at further characterizing the genetic variability associated with D5D and D6D activities on a genome-wide scale. We conducted a genome-wide association study of D5D and D6D activities in a cohort of 141 individuals from the greater Quebec City metropolitan area using the Illumina HumanOmni5-Quad BeadChip. Estimates of D5D and D6D activities were computed using product-to-precursor fatty acid ratios, arachidonic acid (AA)/dihomo-gamma-linolenic acid (DGLA) for D5D, and DGLA/linoleic acid (LA) for D6D. Levels of fatty acids were measured by gas c

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