present in Gene: MEFV
present in Chromosome: 16
Position on Chromosome: 3243407
Alleles of this Variant: T/A;C
rs61752717 in
MEFV gene and
Ankylosing spondylitis
PMID 30946743 2019 Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis.
rs61752717 in
MEFV gene and
Familial Mediterranean Fever
PMID 11464248 2001 Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.
PMID 24318677 2014 FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
PMID 21290976 2010 Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.
PMID 16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
PMID 23742958 2013 Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
PMID 20008920 2010 Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation.
PMID 9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
PMID 24123366 2014 Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
PMID 10024914 1998 Pyrin/marenostrin mutations in familial Mediterranean fever.
PMID 15643295 2005 Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.
PMID 10364520 1999 MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
PMID 16889173 2006 Familial Mediterranean fever and peritoneal malignant mesothelioma: a possible association?
PMID 15942916 2005 They also show that M694V is the most common mutation in Arab patients with FMF and seems to have an association with the development of amyloidosis and the PFMS.
PMID 18353061 2008 Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.
PMID 9781020 1998 Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).
PMID 23907647 2014 Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
PMID 25628446 2015 Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
PMID 10787449 2000 The genetic basis of autosomal dominant familial Mediterranean fever.
PMID 23334425 2013 Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant.
PMID 21995303 2012 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
PMID 22037353 2012 Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.
PMID 22790142 2012 Here, we report the different clinical courses of FMF in a family carrying the same M694V mutation.