|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
The most common mutations in children with FMF in Turkey were M694V and R202Q.
|
30284126 |
2019 |
|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever.
|
28590056 |
2017 |
|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
R202Q may be important in patients with FMF-associated AA amyloidosis.
|
27225717 |
2016 |
|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
We would like to present a case of Kartagener syndrome accompanied by FMF with R202Q polymorphism.
|
24533546 |
2015 |
|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases.
|
24718488 |
2014 |
|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
R202Q polymorphism should be included in routine molecular diagnosis of FMF patients.
|
22771921 |
2012 |
|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon 2 of MEFV gene, which is a causative gene for familial Mediterranean fever.
|
18824843 |
2008 |
|
rs224222
|
|
Familial Mediterranean Fever
|
|
0.080 |
GeneticVariation
|
BEFREE |
The presence of R202Q homozygosity in 12 of the remaining 25 MEFV negative FMF patients might be considered as disease related in Greeks.
|
17489852 |
2007 |
|
rs224222
|
|
Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations.
|
30284126 |
2019 |
|
rs224222
|
|
Chronic Periodontitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The complex R202Q/M694V homozygous state led to an increased risk of chronic periodontitis (odds ratio: 3.6), and FMF-A (odds ratio: 7.6).
|
28590056 |
2017 |
|
rs224222
|
|
Periodontitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
This is the first study to report the R202Q mutation in patients with periodontitis.
|
28590056 |
2017 |
|
rs224222
|
|
AA amyloidosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
R202Q may be important in patients with FMF-associated AA amyloidosis.
|
27225717 |
2016 |
|
rs224222
|
|
Arthritis, Gouty
|
|
0.010 |
GeneticVariation
|
BEFREE |
Heterozygous R202Q was the most common mutation detected in patients with gouty arthritis, while heterozygous E148Q in healthy control group.
|
27587294 |
2016 |
|
rs224222
|
|
Reactive systemic amyloidosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
R202Q may be important in patients with FMF-associated AA amyloidosis.
|
27225717 |
2016 |
|
rs224222
|
|
Metabolic Syndrome X
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found that R202Q was more frequent in the patient group (n=11 [22%] vs. n=3 [6%]) and associated with metabolic syndrome (p: 0.021; OR: 4.42; CI95%: 1.15-16.97).
|
27467001 |
2016 |
|
rs224222
|
|
Kartagener Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
We would like to present a case of Kartagener syndrome accompanied by FMF with R202Q polymorphism.
|
24533546 |
2015 |
|
rs224222
|
|
Abdominal Pain
|
|
0.010 |
GeneticVariation
|
BEFREE |
The frequency of abdominal pain was significantly lower in patients with homozygous R202Q alteration (p = 0.021), whereas patients with heterozygous R202Q mutations, though not statistically significant, had a higher frequency of arthralgia/myalgia (40.0 %, p = 0.05).
|
24718488 |
2014 |
|
rs224222
|
|
Fatigue
|
|
0.010 |
GeneticVariation
|
BEFREE |
Stratification analysis according to clinical features for this disease reveals that morning fatigue and irritable bowel syndrome had associations with R202Q polymorphism (p=0.022 and p=0.031 respectively).
|
23010357 |
2012 |
|
rs224222
|
|
Fibromyalgia
|
|
0.010 |
GeneticVariation
|
BEFREE |
The genotype and allele frequencies of R202Q polymorphism of MEFV gene showed statistically significant differences between FMS patients and healthy controls (p<0.0001 and p<0.0001, respectively) and especially the homozygous AA genotype was significantly higher in FMS patients than in healthy controls (p=0.0003; OR: 7.43, 95% CI: 2.14-39.75).
|
23010357 |
2012 |
|
rs224222
|
|
Brucellosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
While 13 of the 44 FMS patients with MEFV mutation had R202Q polymorphism, none of the 22 controls with MEFV mutation had R202Q polymorphism.
|
23010357 |
2012 |
|
rs224222
|
|
Irritable Bowel Syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
Stratification analysis according to clinical features for this disease reveals that morning fatigue and irritable bowel syndrome had associations with R202Q polymorphism (p=0.022 and p=0.031 respectively).
|
23010357 |
2012 |
|
rs224222
|
|
Ulcerative Colitis
|
|
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 |