|
Crohn Disease
|
|
0.050 |
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 |
|
Crohn Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
A weak gender-specific effect of rs1050152 (L503F) on male UC and female CD </span>was observed.
|
21122496 |
2010 |
|
Crohn Disease
|
|
0.050 |
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 |
|
Crohn Disease
|
|
0.050 |
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 |
|
Crohn Disease
|
|
0.050 |
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 |
|
Inflammatory Bowel Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
The present results replicated the association of the OCTN1 rs1050152 (L503F) variant with CD and IBD overall.
|
21122496 |
2010 |
|
Inflammatory Bowel Diseases
|
|
0.020 |
GeneticVariation
|
BEFREE |
To determine whether the TC haplotype is also associated with IBD in a Japanese population, we genotyped L503F and -207G/C variants in Japanese subjects.
|
16373276 |
2006 |
|
Ulcerative Colitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A weak gender-specific effect of rs1050152 (L503F) on male UC and female CD was observed.
|
21122496 |
2010 |
|
Diabetes Mellitus, Insulin-Dependent
|
|
0.010 |
GeneticVariation
|
BEFREE |
For these reasons, we investigated for the first time the association with T1D of six single nucleotide polymorphisms (SNPs) mapping to these candidate genes: slc2F2, slc2F11, T306I, L503F, OCTN2-promoter and OCTN2-intron.
|
16796743 |
2006 |
|
Paratuberculosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Further, we have now identified a nine amino acid epitope shared by this functional variant of OCTN1 (Leu503Phe) (which decreases the efficiency of carnitine transport), and by C. jejuni (9 aa) and M. paratuberculosis (6 aa).
|
16246312 |
2005 |