Analysis of ABAT inhibition in dogs.

<p>Inhibition of TLESRs (A) and reflux episodes (B) in dogs after administration of the ABAT specific inhibitor Vigabatrin. Administration was performed 2 hours or 2 and 16 hours before measurements. Each group consisted of six dogs. TLESR and reflux events are presented as number of events/45 minutes. P-values were calculated using paired t-test. Open boxes represent the control experiment, filled boxes are after the administration of Vigabatrin, n.s. denotes not significant.</p

Genetic association in the trio cohort.

<p>A total of 66 SNPs were genotyped in the linked region on chromosome 16 and subsequently analyzed with TDT. The table shows a subset of these located around ABAT. T:U denotes the number of transmitted versus untransmitted alleles. p-val is the nominal p value. p_adj is the p-value adjusted for multiple testing through permutation analysis for the full 66 SNP panel. The trio cohort consists of 177 probands with positive findings from endoscopy evaluation and 175 probands with positive findings from histology evaluation. In total the cohort consist of 219 trios. The eight SNPs marked with an asterisk were also genotyped in the adult case control cohort in addition to rs8046201.</p

Overlapping linkage peak at chromosome 16p for families 122 and 146.

<p>Strongest linkage was obtained for family 146 showing a LOD of 3.9. The other family, 122, showed a linkage of LOD 2.0. The combined linkage curve reaches a maximal LOD score of 5.5.</p

A summary of the five linked regions identified in the GERD family collection.

<p>The table shows that suggestive linkage was found on chromosome 5, 6, 16 and 18. Significant linkage was found on chromosome 16. Number of GERD individuals and individuals with unassigned disease status are presented for each family (number of males in parenthesis). The remaining individuals are healthy. The linked region is defined as the utmost markers included in the genetic linkage log of Odds (LOD) score peak while outer markers are defined as the closest genotyped unlinked marker.</p

The linked region at chromosome 16p.

<p>The box represents the region of the combined maximum LOD-1. This approximates a 95% confidence interval for the location of the linked candidate gene and covers approximately 5 Mbp. The genes located within the region are; Ataxin Binding Protein 1 (A2BP1), chromosome 16 open reading frame 68 (C16ORF68), 4-aminobutyrate aminotransferase (ABAT), transmembrane protein 186 (TMEM186), phosphomannomutase 2 (PMM2), calcium regulated heat stable protein 1, 24 kDa (CARHSP1), ubiquitin specific peptidase 7 (USP7), chromosome 16 open reading frame 72 (C16ORF72) and glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A).</p