ABSTRACT
BACKGROUND: Polymorphisms of the interleukin-1 (IL-1) gene family have been proposed as potential variants for different diseases including multiple sclerosis (MS). With respect to MS, IL-1 beta (-511 C/T; rs16944), IL-1 beta (+3954 C/T; rs1143634), IL-1 alpha (-889 C/T; rs1800587), IL-1 alpha (+4845 G/T; rs17561), and the variable number of tandem repeats in intron 2 of the IL-1 receptor antagonist (IL-1RN) gene polymorphisms have been studied in different ethnic groups, leading to conflicting results. METHODS: This study investigates the association between IL-1 genes and MS by means of 70 markers spanning the 1.1 Mb region where the IL-1 genes map and exploring both the linkage disequilibrium (LD) and the haplotype structure in a case-control design including 410 subjects (160 patients and 250 controls). RESULTS: From allelic/genotypic tests, significant association was found for several polymorphisms including the IL-1 beta (-511 C/T) variant (P-adjusted = 4.5 x 10(-4)) and some polymorphisms around the IL-1RN gene. The 'block-step' pattern obtained from both the LD map and pairwise analysis identifies four LD regions. Region 1 showed a significant association with MS for the global test (P < 0.0001) and haplotypes containing the IL-1 beta (-511 C/T) variant still demonstrate highly significant association with disease (P-value range: 9.9 x 10(-5) to 0.02). CONCLUSIONS: Our findings support the existence of a causative variant for MS within this candidate region in a representative Italian Caucasian population and, in particular, the role of the IL-1 beta (-511 C/T) variant warrants further investigation.
Subject(s)
Genetic Predisposition to Disease/genetics , Interleukin-1/genetics , Multigene Family/genetics , Multiple Sclerosis/genetics , Multiple Sclerosis/immunology , Polymorphism, Single Nucleotide/genetics , Adult , Case-Control Studies , Chromosome Mapping , Female , Genetic Predisposition to Disease/ethnology , Haplotypes , Humans , Italy , Male , Middle Aged , Multiple Sclerosis/ethnology , White PeopleABSTRACT
The relation of infectious agents to arthritis is an area of great interest to the rheumatologist. Septic arthritis of bacterial origin accounts for approximately 6.5% of all childhood arthritides. Septic arthritis usually results from haematogenous spread from a focus of infection elsewhere in the body, but also by direct extension of an infection from overlying soft tissues or bone or traumatic invasion of the joint. As a result, if a focus of underlying osteomyelitis breaks throught the metaphysis, it may enter the joint and result in septic arthritis. Systemic signs of illness are fever, severe bone pain, and tenderness with or without local swelling. A wide range of microorganism can cause septic arthritis in children; Staphylococcus aureus and nongroup A and B streptococci are most common overall. However, different organisms are more common at some ages and in certain circumstances. Kingella kingae is an emerging pathogen in young children under 4 years of age. The clinical presentation of K. kingae invasive infection is often subtle and may be associated to mild to moderate biologic inflammatory responses. Affected children often have few signs and symptoms of osteoarticular infections. Early MRI is useful in differentiating K kingae from Gram-positive cocci in osteoarticular infections. Cartilaginous involvement, modest soft tissue and bone reaction suggest K. kingae. It's very important to include K. kingae in differential diagnosis of osteoarticular infections in young children. We report an unusual case of osteomyelitis: clinical manifestations and MRI are suggestive for K kingae infection.
Subject(s)
Kingella kingae/isolation & purification , Neisseriaceae Infections/diagnosis , Osteomyelitis/diagnosis , Child, Preschool , Diagnosis, Differential , Female , Humans , Magnetic Resonance Imaging , Neisseriaceae Infections/microbiology , Osteomyelitis/microbiology , Osteomyelitis/physiopathologyABSTRACT
The interleukin-1 (IL-1) gene family has been associated with susceptibility to periodontal diseases, including aggressive periodontitis (AgP); however, the results are still conflicting. The present study investigated the association between IL-1 genes and AgP using 70 markers spanning the 1.1-Mb region, where the IL-1 gene family maps, and exploring both the linkage disequilibrium (LD) and the haplotype structure in a case-control study including 95 patients and 121 control individuals. No association between AgP and IL1A, IL1B, and IL1RN genes was found in either single-point or haplotype analyses. Also, the LD map of the region 2q13-14 under the Malécot model for multiple markers showed no causal association between AgP and polymorphisms within the region (p = 0.207). In conclusion, our findings failed to support the existence of a causative variant for generalized AgP within the 2q13-14 region in an Italian Caucasian population.