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Journal of Community Genetics

, Volume 3, Issue 4, pp 259–264 | Cite as

Genetics of autoimmune thyroid disease in the Lebanese population

  • C. Farra
  • J. Awwad
  • A. Fadlallah
  • G. Sebaly
  • G. Hage
  • M. Souaid
  • H. Ashkar
  • R. Medlej
  • M. H. Gannageh
  • G. Halaby
Original Article

Abstract

This study aims to investigate the association of human leukocyte antigen (HLA) class II genes and cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) with autoimmune thyroid diseases in the Lebanese population. A total of 128 patients with autoimmune thyroid disease (55 with Graves’ disease (GD) and 73 with Hashimoto’s thyroiditis (HT)) were typed for HLA DQA1 (0301 and 0501) and DQB1 (0201, 0302, and 0303) and for 49A/G CTLA-4 using PCR-based sequence-specific priming methods. A total of 186 matched controls were typed for the same alleles and compared to the diseased population. Results showed no significant differences in HLA DQB1*0201 or DQB1*0301 allelic frequencies or CTLA-4 polymorphisms between patients and controls. For GD, there was a weak association with HLA DQB1*0302 [34.6% (19 of 55) vs. 21.5% (40 of 186), P = 0.048, odds ratio (OR) = 1.926, confidence interval (CI) = 0.999–3.715] and HLA DQB1*0302-DQA1*0501 haplotype [56.36% (31 of 55) vs. 40.8% (76 of 186), P = 0.042, OR = 1.870, CI = 1.018–3.433]. For HT, the frequencies of DQB1*0302-DQA1*0501 haplotype [28.8% (21of 73) vs. 14.5% (27 of 186), P = 0.008, OR = 2.378, CI = 1.241–4.558] and DQB1*0302-DQA1*0301 haplotype [60.2% (44 of 73) vs. 38.7% (72 of 186), P = 0.002, OR = 2.402, CI = 1.381–4.180] were significantly higher in patients. On the other hand, weak association was found between HT and DQA1*0301 allele [32.9% (24 of 73) vs. 20.9% (39 of 186), P = 0.044, OR = 1.846, CI = 1.011–3.373]. Findings show that DQB1*0302-DQA1*0501 and DQB1*0302-DQA1*0301 haplotypes may play a role in the pathogenesis of HT in the Lebanese population. For the 49A/G CTLA-4 polymorphism, no significant difference was found between patients and controls.

Keywords

Autoimmune thyroid disease Graves’ disease Hashimoto’s thyroiditis Human leukocyte antigen Cytotoxic T lymphocyte-associated antigen-4 Thyroid peroxidase antibody 

Notes

Acknowledgments

We thank the Lebanese Council for financial support.

Conflict of interest

The authors have no conflicts of interest to disclose.

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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • C. Farra
    • 1
  • J. Awwad
    • 4
  • A. Fadlallah
    • 2
  • G. Sebaly
    • 2
  • G. Hage
    • 2
  • M. Souaid
    • 3
  • H. Ashkar
    • 1
  • R. Medlej
    • 2
  • M. H. Gannageh
    • 2
  • G. Halaby
    • 2
  1. 1.Department of Pathology and Laboratory MedicineAmerican University of Beirut Medical CenterBeirutLebanon
  2. 2.Division of EndocrinologyHotel Dieu de France HospitalBeirutLebanon
  3. 3.Genetics LaboratoryChronic Care CenterHazmiehLebanon
  4. 4.Department of Obstetrics and GynecologyAmerican University of Beirut Medical CenterBeirutLebanon

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