PMID- 14510917
OWN - NLM
STAT- MEDLINE
DCOM- 20031120
LR  - 20190813
IS  - 0300-0664 (Print)
IS  - 0300-0664 (Linking)
VI  - 59
IP  - 4
DP  - 2003 Oct
TI  - Interleukin-13 gene polymorphisms in patients with Graves' disease.
PG  - 519-25
AB  - OBJECTIVE: In patients with Graves' disease (GD), an elevation of serum 
      immunoglobulin E (IgE) has been recently reported to be associated with the 
      severity of hyperthyroidism and ophthalmopathy. Interleukin 13 (IL-13) is a major 
      cytokine involved in IgE synthesis and therefore may be a potential candidate 
      gene contributing to the development of GD or influencing the clinical course of 
      the disease. DESIGN: In a case-control study, we examined IL-13 gene 
      single-nucleotide polymorphisms in the 5' promoter region at position -1112 (C to 
      T change, termed as C-1112T) and in exon 4 at position 2044 (G to A change, 
      G2044A, which results in an amino acid exchange Arg130Gln) in 261 patients with 
      GD. The control groups consisted of healthy young subjects (n=168) and subjects 
      over 100 years old with no history of autoimmune or allergic diseases recruited 
      from the Polish Centenarians Project (n=50). MEASUREMENTS: C-1112T and G2044A 
      polymorphisms were defined by fluorescent single-strand conformational 
      polymorphism and by restriction fragment length polymorphism analysis, 
      respectively. RESULTS: In patients with GD, the distribution of IL-13 alleles 
      (-1112T 31%; 2044A 25%) and genotypes (-1112T/T 10%; 2044A/A 7%) did not differ 
      significantly compared to control groups. Subdividing GD patients according to 
      clinically evident ophthalmopathy (NOSPECS class III or higher, n=93) revealed no 
      significant differences in the frequencies of -1112T allele (33%vs. 29%; P=0.4), 
      -1112T/T genotype (13%vs. 8%; P=0.3), 2044A allele (27%vs. 24%; P=0.5) and 
      2044A/A genotype (9%vs. 7%; P=0.7) between GD patients with and without eye 
      involvement. In order to analyse the association with the severity of 
      hyperthyroidism, we examined patients with a first onset of GD treated with 
      antithyroid drugs (n=32). IL-13 genotypes were not associated with the laboratory 
      findings at diagnosis (thyroid volume, serum levels of FT4, TRAb, TPOAb, TGAb) 
      and with the outcome of antithyroid drug treatment. CONCLUSIONS: Our results 
      suggest that IL-13 gene polymorphisms at positions -1112 (C-->T) and 2044 
      (G-->A): (1) do not confer genetic susceptibility to Graves' disease; (2) do not 
      contribute to the development of clinically evident ophthalmopathy; (3) are not 
      associated with severity of hyperthyroidism.
FAU - Bednarczuk, Tomasz
AU  - Bednarczuk T
AD  - Department of Endocrinology, Medical Research Center, Polish Academy of Science, 
      Medical University of Warsaw, Poland. bednar@amwaw.edu.pl
FAU - Placha, Grzegorz
AU  - Placha G
FAU - Jazdzewski, Krystian
AU  - Jazdzewski K
FAU - Kurylowicz, Alina
AU  - Kurylowicz A
FAU - Kloza, Marta
AU  - Kloza M
FAU - Makowska, Urszula
AU  - Makowska U
FAU - Hiromatsu, Yuji
AU  - Hiromatsu Y
FAU - Nauman, Janusz
AU  - Nauman J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
RN  - 0 (Interleukin-13)
SB  - IM
EIN - Clin Endocrinol (Oxf). 2003 Nov;59(5):658
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Case-Control Studies
MH  - Eye Diseases/complications/genetics
MH  - Female
MH  - Genotype
MH  - Graves Disease/complications/*genetics
MH  - Humans
MH  - Interleukin-13/*genetics
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Restriction Fragment Length
MH  - Polymorphism, Single Nucleotide/*genetics
MH  - Promoter Regions, Genetic/genetics
MH  - Severity of Illness Index
EDAT- 2003/09/27 05:00
MHDA- 2003/12/03 05:00
CRDT- 2003/09/27 05:00
PHST- 2003/09/27 05:00 [pubmed]
PHST- 2003/12/03 05:00 [medline]
PHST- 2003/09/27 05:00 [entrez]
AID - 1880 [pii]
AID - 10.1046/j.1365-2265.2003.01880.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2003 Oct;59(4):519-25. doi: 
      10.1046/j.1365-2265.2003.01880.x.