|
rs61752717
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Contribution of M694V was higher compared with the other variations (14.5% in CD, 17.3% in UC and 3% in controls, odds ratio =6.039, 95% confidence intervals, 1.7-20.7, P=0.002).
|
22810105 |
2013 |
|
rs61752717
|
|
|
0.020 |
GeneticVariation |
BEFREE |
M694V was the leading mutation, and as a disease-causing mutation, it was found to be significantly more frequent in CD patients than UC patients (Fisher's exact test P = 0.03).
|
20306331 |
2010 |
|
rs224217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Comprehensive genetic screening of the MEFV region in the Belgian exploratory sample set (440 CD trios, 137 UC trios, 239 CD cases, 96 UC cases, and 107 healthy controls) identified SNPs located in the MEFV 5' haplotype block that were significantly associated with UC (rs224217; p = 0.003; A allele frequency: 56% cases, 45% controls), while no CD associations were observed.
|
19784369 |
2009 |
|
rs224222
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing and subsequent genotyping of variants located in this associated haplotype block identified three synonymous variants (D102D/rs224225, G138G/rs224224, A165A/rs224223) and one non-synonymous variant (R202Q</span>/rs2</span>24222) located in MEFV exon 2 that were significantly associated with UC (rs224222: p = 0.0005; A allele frequency: 32% in cases, 23% in controls).
|
19784369 |
2009 |
|
rs224223
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing and subsequent genotyping of variants located in this associated haplotype block identified three synonymous variants (D102D/rs224225, G138G/rs224224, A165A/rs224223) and one non-synonymous variant (R202Q/rs224222) located in MEFV exon 2 that were significantly associated with UC (rs224222: p = 0.0005; A allele frequency: 32% in cases, 23% in controls).
|
19784369 |
2009 |
|
rs224224
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing and subsequent genotyping of variants located in this associated haplotype block identified three synonymous variants (D102D/rs224225, G138G/rs224224, A165A/rs224223) and one non-synonymous variant (R202Q/rs224222) located in MEFV exon 2 that were significantly associated with UC (rs224222: p = 0.0005; A allele frequency: 32% in cases, 23% in controls).
|
19784369 |
2009 |
|
rs224225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequencing and subsequent genotyping of variants located in this associated haplotype block identified three synonymous variants (D102D/rs224225, G138G/rs224224, A165A/rs224223) and one non-synonymous variant (R202Q/rs224222) located in MEFV exon 2 that were significantly associated with UC (rs224222: p = 0.0005; A allele frequency: 32% in cases, 23% in controls).
|
19784369 |
2009 |