| Autor: |
L F, Barcellos, A M, Schito, J B, Rimmler, E, Vittinghoff, A, Shih, R, Lincoln, S, Callier, M K, Elkins, D E, Goodkin, J L, Haines, M A, Pericak-Vance, S L, Hauser, J R, Oksenberg |
| Rok vydání: |
2000 |
| Předmět: |
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| Zdroj: |
Immunogenetics. 51(4-5) |
| ISSN: |
0093-7711 |
| Popis: |
Multiple sclerosis (MS) is a common disease of the central nervous system characterized by myelin loss and progressive neurological dysfunction. An underlying genetic susceptibility plays a clear role in the etiology of MS, likely acting in concert with an undefined environmental exposure. Full-genome screenings in multiplex MS families have identified several susceptibility regions, supporting a polygenic model for MS. Among these regions, evidence for weak linkage was observed at 3p/3cen suggesting the presence of an MS gene(s) of modest effect. Encoded here are two chemokine receptors, CCR5 and CCR2B. We examined the chromosome 3p21-24 region in 125 MS families (322 total affecteds and 200 affected sib-pairs), and performed genetic analyses of CCR5 and CCR2B loci and two nearby markers (D3S1289 and D3S1300) using both linkage- and association-based tests. No evidence of linkage to MS was observed for any of the tested markers. Affected relative-pair (SimIBD) and sib-pair analyses (ASPEX), and association testing (sib-TDT) for each locus were also not significant. However, age of onset was approximately 3 years later in patients carrying the CCR5delta32 deletion (P=0.018 after controlling for gender effects). Thus, chemokine receptor expression may be associated with differential disease onset in a subset of patients, and may provide a therapeutic target to modulate inflammatory demyelination. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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