RGD Reference Report - The functional SLC11A1 gene polymorphisms are associated with sarcoidosis in Turkish population. - Rat Genome Database

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The functional SLC11A1 gene polymorphisms are associated with sarcoidosis in Turkish population.

Authors: Akcakaya, P  Azeroglu, B  Even, I  Ates, O  Turker, H  Ongen, G  Topal-Sarikaya, A 
Citation: Akcakaya P, etal., Mol Biol Rep. 2011 Dec 8.
RGD ID: 5684925
Pubmed: PMID:22160516   (View Abstract at PubMed)
DOI: DOI:10.1007/s11033-011-1297-x   (Journal Full-text)

Sarcoidosis (SA) is an immune-mediated multisystemic disorder of unknown etiology characterized by the accumulation of lymphocytes, mononuclear phagocytes and epithelioid cell granulomas involved in different organs and tissues. The belief that genetics contribute to SA etiology is supported by twin studies, disease clustering in families and racial differences in incidence rates. Involvements of SLC11A1 in macrophage function and activation, makes it an attractive candidate gene for immune-mediated and infectious diseases. We investigated the association between SA and four polymorphisms of the SLC11A1 gene, including a single nucleotide change in intron 4 (INT4); a nonconservative single-base substitution at codon 543 (D543N); a TGTG deletion in the 3' untranslated region; and the functional (GT)(n) repeat polymorphism in the 5' region, in 95 Turkish SA patients and 150 healthy controls, by using amplification refractory mutation system-polymerase chain reaction and sequencing. We found significant association between SA and INT4 G/C allele frequency (P = 0.0000; odds ratio 2.75; 95% confidence interval 1.68-4.52) and 5'(GT)(n) allele 2/3 frequency (P = 0.0000; odds ratio 2.69; 95% confidence interval 1.61-4.47) suggesting that SLC11A1 might be a plausible candidate gene for SA.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sarcoidosis  IAGP 5684925DNA:repeat more ...RGD 
sarcoidosis  ISOSLC11A1 (Homo sapiens)5684925; 5684925DNA:repeat more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc11a1  (solute carrier family 11 member 1)

Genes (Mus musculus)
Slc11a1  (solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1)

Genes (Homo sapiens)
SLC11A1  (solute carrier family 11 member 1)


Additional Information