Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis

The Journal of Pediatrics
Melissa R MillerLisa J Strug

Abstract

To test the hypothesis that multiple constituents of the apical plasma membrane residing alongside the causal cystic fibrosis (CF) transmembrane conductance regulator protein, including known CF modifiers SLC26A9, SLC6A14, and SLC9A3, would be associated with prenatal exocrine pancreatic damage as measured by newborn screened (NBS) immunoreactive trypsinogen (IRT) levels. NBS IRT measures and genome-wide genotype data were available on 111 subjects from Colorado, 37 subjects from Wisconsin, and 80 subjects from France. Multiple linear regression was used to determine whether any of 8 single nucleotide polymorphisms (SNPs) in SLC26A9, SLC6A14, and SLC9A3 were associated with IRT and whether other constituents of the apical plasma membrane contributed to IRT. In the Colorado sample, 3 SLC26A9 SNPs were associated with NBS IRT (min P=1.16×10(-3); rs7512462), but no SLC6A14 or SLC9A3 SNPs were associated (P>.05). The rs7512462 association replicated in the Wisconsin sample (P=.03) but not in the French sample (P=.76). Furthermore, rs7512462 was the top-ranked apical membrane constituent in the combined Colorado and Wisconsin sample. NBS IRT is a biomarker of prenatal exocrine pancreatic disease in patients with CF, and a SNP in SLC...Continue Reading

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Citations

Jun 28, 2015·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Marcus A Mall, Luis J V Galietta
Nov 28, 2015·Mediators of Inflammation·Monica Sala-RabanalTom J Brett
Apr 1, 2017·American Journal of Physiology. Lung Cellular and Molecular Physiology·Carol A BertrandRaymond A Frizzell
Dec 8, 2017·Pancreas·Fernando Augusto Lima MarsonJosé Dirceu Ribeiro
Aug 19, 2018·Genetic Epidemiology·Lisa J Strug
Jun 6, 2019·Clinical and Translational Gastroenterology·David C Whitcomb, UNKNOWN North American Pancreatitis Study Group
Oct 4, 2019·The Journal of Clinical Investigation·Anh-Thu N LamGarry R Cutting
Jan 24, 2016·American Journal of Physiology. Lung Cellular and Molecular Physiology·Johanna J SalomonMarcus A Mall
Mar 14, 2020·Cellular and Molecular Life Sciences : CMLS·Manon RuffinLoic Guillot
Aug 25, 2018·Frontiers in Pharmacology·Harriet CorvolLoïc Guillot
Feb 15, 2019·Frontiers in Pharmacology·Karl KunzelmannRoberta Benedetto
Jul 31, 2018·Human Molecular Genetics·Lisa J StrugAnn Harris
Jul 31, 2021·Journal of Experimental Pharmacology·Madalena C PintoMiquéias Lopes-Pacheco

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