|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Several studies have demonstrated that the organic cation/carnitine transporter 1 (<i>OCTN1</i>) non-synonymous variant L503F is associated with susceptibility to CD.
|
28066136 |
2017 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The human OCTN1 (SLC22A4) reconstituted in liposomes catalyzes acetylcholine transport which is defective in the mutant L503F associated to the Crohn's disease.
|
22206629 |
2012 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
CD was associated with NOD2 carrier (6.93% CD, 2.15% Controls, P = 0.007), ATG16L1 Thr300Ala (36.1% CD, 29.3% Controls, P = 0.003), SLC22A4 and SLC22A5 (IBD5 locus) functional SNPs (Leu503Phe [10.5% CD, 7.6% Controls, P = 0.05] and g-207c [41.3% CD, 35.7% Controls, P = 0.03], respectively), and IL23R rs2201841 (18.2% CD, 13.8% Controls, P = 0.03), but not IRGM variants, nor three African ancestral NOD2 nonsynonymous variants.IBD5 risk was recessive.
|
22411504 |
2012 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In the Czech population we examined its genetic association using variants of the SLC22A4 (rs1050152), SLC22A5 (rs2631367), two single nucleotide polymorphisms (SNPs) shown to be associated with CD in genome-wide studies (rs6596075 and rs2188962), and four SNPs previously shown to tag the haplotype blocks 4, 7, 9, 10 of the IBD5 locus (IGR2063b_1, IGR2230a_1, IGR100Xa_1, IGR3236a_1).
|
21674708 |
2011 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We found statistically significant association of polymorphisms rs1050152 in gene SLC22A4 (p = 0.005, OR = 2.177, 95% CI = 1.270-3.526) and rs2631372 in gene SLC22A5 (p = 0.001, OR = 0.473, 95% CI = 0.307-0.731) and TC haplotype of both polymorphisms (p = 0.006, OR = 1,541, 95% CI = 1.130-2.100) with refractory Crohn's disease (CD) in Slovenian patients who do not respond to standard therapy, including patients who develop fistulas.
|
21695374 |
2011 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A weak gender-specific effect of rs1050152 (L503F) on male UC and female CD </span>was observed.
|
21122496 |
2010 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A weak gender-specific effect of rs1050152 (L503F) on male UC and female CD </span>was observed.
|
21122496 |
2010 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Case-control data on New Zealand Caucasians show no differences for CD risk between individuals carrying the L503F OCTN1 C-allele when compared with those carrying the variant T-allele.
|
19660151 |
2009 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our aim was to assess the involvement on T1D and RA of IL4 polymorphisms considered individually and in combination with other polymorphisms in 5q31-33, specifically in the OCTN locus, where the L503F polymorphism has been associated with Crohn's disease and other Th1 diseases.
|
18064451 |
2008 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
GWASDB |
Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
|
17804789 |
2007 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
L503F in SLC22A4 was the only nonsynonymous SNP significantly associated with CD (P=0.003), but was not associated with disease in the absence of other markers of the 250 kb risk haplotype.
|
16724073 |
2006 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We found L503F and -207G/C to be very rare (<1% frequency) in CD, UC and HC in the Japanese population.
|
16373276 |
2006 |
|
rs1050152
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Recently, two functional variants within the SLC22A4 and SLC22A5 genes at this locus (IBD5), L503F (c.1507C > T) and G-207C (c.-207G > C), have been proposed to contribute directly to susceptibility to CD.
|
16835882 |
2006 |