PMID- 16465659
OWN - NLM
STAT- MEDLINE
DCOM- 20060504
LR  - 20071115
IS  - 0315-162X (Print)
IS  - 0315-162X (Linking)
VI  - 33
IP  - 2
DP  - 2006 Feb
TI  - Lack of association of a functional -94ins/delATTG NFKB1 promoter polymorphism 
      with susceptibility and clinical expression of biopsy-proven giant cell arteritis 
      in northwest Spain.
PG  - 285-8
AB  - OBJECTIVE: Giant cell arteritis (GCA) is a vasculitis preferentially involving 
      large and middle-sized arteries in the elderly. The nuclear factor of k-light 
      polypeptide gene enhancer in B cells (NF-kB) is a family of 5 proteins expressed 
      in most cells that function to regulate gene transcription. NFKB1 gene plays a 
      critical role in the coordination of the immune system by regulating the 
      transcription of a broad variety of genes implicated in the immune response. A 
      NFKB1 promoter polymorphism consisting of a common insertion/deletion 
      (-94ins/delATTG) located between 2 putative key promoter regulatory elements and 
      showing functional effects on the transcription of the NFKB1 gene has been 
      described. Since GCA is a polygenic disease, we sought to assess the potential 
      role of the -94ins/delATTG NFKB1 promoter polymorphism in susceptibility to GCA 
      and to determine if this polymorphism is implicated in the clinical expression of 
      this vasculitis. METHODS: Ninety-six patients with biopsy-proven GCA and 204 
      ethnically matched Caucasian controls from the Lugo region (Northwest Spain) were 
      studied. Genotyping of the -94ins/delATTG NFKB1 promoter polymorphism was 
      performed by fluorescent polymerase chain reaction (PCR). RESULTS: No significant 
      differences in allele or genotype frequencies for this NFKB1 promoter 
      polymorphism were observed between patients with GCA and controls even when 
      patients were stratified according to gender, presence of polymyalgia rheumatica 
      (n = 38), severe ischemic manifestations (n = 49), or other clinical 
      manifestations of GCA. CONCLUSION: Our results do not support a role for 
      -94ins/delATTG NFKB1 promoter polymorphism in susceptibility and clinical 
      expression of GCA in a Northwestern Spanish population.
FAU - Martin, Javier
AU  - Martin J
AD  - Instituto de Parasitologia y Biomedicina Lopez-Neyra. CSIC, Granada.
FAU - Perez-Armengol, Cristina
AU  - Perez-Armengol C
FAU - Miranda-Filloy, Jose A
AU  - Miranda-Filloy JA
FAU - Vilchez, Jose R
AU  - Vilchez JR
FAU - Lopez-Nevot, Miguel A
AU  - Lopez-Nevot MA
FAU - Garcia-Porrua, Carlos
AU  - Garcia-Porrua C
FAU - Gonzalez-Gay, Miguel A
AU  - Gonzalez-Gay MA
LA  - eng
PT  - Journal Article
PL  - Canada
TA  - J Rheumatol
JT  - The Journal of rheumatology
JID - 7501984
RN  - 0 (NF-kappa B p50 Subunit)
RN  - 0 (NFKB1 protein, human)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Biopsy
MH  - Female
MH  - Gene Deletion
MH  - Gene Frequency
MH  - *Genetic Predisposition to Disease
MH  - Giant Cell Arteritis/complications/*genetics/pathology
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - NF-kappa B p50 Subunit/*genetics
MH  - *Polymorphism, Genetic
MH  - Polymyalgia Rheumatica/complications/genetics/pathology
MH  - Spain
EDAT- 2006/02/09 09:00
MHDA- 2006/05/05 09:00
CRDT- 2006/02/09 09:00
PHST- 2006/02/09 09:00 [pubmed]
PHST- 2006/05/05 09:00 [medline]
PHST- 2006/02/09 09:00 [entrez]
AID - 0315162X-33-285 [pii]
PST - ppublish
SO  - J Rheumatol. 2006 Feb;33(2):285-8.