RGD Reference Report - Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region. - Rat Genome Database

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Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region.

Authors: Tazi-Ahnini, R  di Giovine, F S  McDonagh, A J  Messenger, A G  Amadou, C  Cox, A  Duff, G W  Cork, M J 
Citation: Tazi-Ahnini R, etal., Hum Genet. 2000 Jun;106(6):639-45. doi: 10.1007/s004390000318.
RGD ID: 126777672
Pubmed: PMID:10942113   (View Abstract at PubMed)
DOI: DOI:10.1007/s004390000318   (Journal Full-text)

Alopecia areata (AA) is a chronic inflammatory disease characterised by patchy hair loss with T cell infiltration of hair follicles. AA occurs in approximately 0.1% of the general population, but this is increased to 9% in Down syndrome (DS). DS is associated with an additional copy (full or partial) of chromosome 21, and the DS region may potentially include genes involved in the pathogenesis of AA. MX1 is the gene encoding the interferon-induced p78 protein (MxA). MxA protein confers resistance to influenza viruses, and we have previously shown that MxA protein is strongly expressed in lesional anagen hair bulbs from patients with AA but not in normal follicles. We therefore studied the possible involvement of MX1 in the pathogenesis of AA. To establish markers in the MX1 region which could be screened by PCR-based methods, we defined the human MX1 exon/intron organisation and screened the exons and the introns by conformation-sensitive gel electrophoresis. We found that the MX1 gene contains 17 exons extending over 33 kb. The size and sequence of the region from exon 6 to exon 16 are highly conserved between human and mouse. Screening of 4747 bp within the MX1 gene revealed four single nucleotide polymorphisms in intron 6. These polymorphisms are concentrated within 147 bp and show strong linkage disequilibrium. In a case-control association study for the MX1 (+9959) polymorphism in 165 AA patients and 510 controls we found a significant association of this marker with AA (odds ratio 1.79, 95% CI 1.21-2.66, chi2 = 8.464, P = 0.0036). The risk of disease was greater for patchy AA (mild disease) and with early age at onset (odds ratio 2.34, 95% CI 1.24-4.43, P = 0.0072), providing new evidence of genetic heterogeneity in AA. Our demonstration of genetic association between the MX1 gene and disease supports the hypothesis that this is a new candidate gene in AA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
alopecia areata onsetIAGP 126777672DNA:SNP:intron 6:g.9959C>T (human)RGD 
alopecia areata onsetISOMX1 (Homo sapiens)126777672; 126777672DNA:SNP:intron 6:g.9959C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mx1  (MX dynamin like GTPase 1)

Genes (Mus musculus)
Mx1  (MX dynamin-like GTPase 1)

Genes (Homo sapiens)
MX1  (MX dynamin like GTPase 1)


Additional Information