Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy

Omid Khalilzadeh, Hoda Mojazi Amiri, Maryam Tahvildari, Mehdi Anvari, Alireza Esteghamati, Zahra Mobarra, Zohreh Tehranchinia, Armin Rashidi, Aliakbar Amirzargar

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) is a well-known molecule that regulates T cell activity, with polymorphisms at different regions of this gene having been associated with autoimmune conditions. Pretibial myxedema (PTM), also called Graves' dermopathy, is an autoimmune extrathyroidal manifestation of Graves' disease. We opted to investigate the relationship between three single nucleotide polymorphisms of the CTLA-4 gene (+49A/G, and -318C/T and -1147C/T) and PTM in Iranian patients with Graves' ophthalmopathy (GO). A total of 105 unrelated Iranian patients with GO from the outpatient endocrine clinic of a large university general hospital as well as 103 healthy controls were studied. The genomic DNA was extracted from venous blood samples by a salting out method, and the polymorphisms at +49, -318 and -1147 positions of the CTLA-4 gene were determined using the polymerase chain reaction-restriction fragment length polymorphism method. The GG genotype (OR = 6.000, 95% CI = 1.805-19.940, P = 0.005) and the G allele (OR = 2.653, 95% CI = 1.314-5.357, P = 0.009) at position +49 were significantly associated with PTM in the patient group. The same genotype and allele were also significantly more common among patients (with or without PTM) than controls. No significant association was found for the other two polymorphisms. In conclusion, the +49G allele is associated with increased risk of PTM in patients with GO. Studies with larger sample sizes are needed to confirm the results of the present study.

Original languageEnglish (US)
Pages (from-to)719-723
Number of pages5
JournalArchives of Dermatological Research
Volume301
Issue number10
DOIs
StatePublished - Jan 1 2009

Fingerprint

CTLA-4 Antigen
Graves Ophthalmopathy
Myxedema
Exons
Genes
Alleles
Genotype
Graves Disease
Ambulatory Care Facilities
General Hospitals
Restriction Fragment Length Polymorphisms
Sample Size
Single Nucleotide Polymorphism
T-Lymphocytes
Polymerase Chain Reaction
DNA

Keywords

  • CTLA-4 gene
  • Graves' dermopathy
  • Graves' disease
  • Polymorphism
  • Pretibial myxedema

Cite this

Khalilzadeh, O., Mojazi Amiri, H., Tahvildari, M., Anvari, M., Esteghamati, A., Mobarra, Z., ... Amirzargar, A. (2009). Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy. Archives of Dermatological Research, 301(10), 719-723. https://doi.org/10.1007/s00403-008-0919-1

Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy. / Khalilzadeh, Omid; Mojazi Amiri, Hoda; Tahvildari, Maryam; Anvari, Mehdi; Esteghamati, Alireza; Mobarra, Zahra; Tehranchinia, Zohreh; Rashidi, Armin; Amirzargar, Aliakbar.

In: Archives of Dermatological Research, Vol. 301, No. 10, 01.01.2009, p. 719-723.

Research output: Contribution to journalArticle

Khalilzadeh, O, Mojazi Amiri, H, Tahvildari, M, Anvari, M, Esteghamati, A, Mobarra, Z, Tehranchinia, Z, Rashidi, A & Amirzargar, A 2009, 'Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy', Archives of Dermatological Research, vol. 301, no. 10, pp. 719-723. https://doi.org/10.1007/s00403-008-0919-1
Khalilzadeh, Omid ; Mojazi Amiri, Hoda ; Tahvildari, Maryam ; Anvari, Mehdi ; Esteghamati, Alireza ; Mobarra, Zahra ; Tehranchinia, Zohreh ; Rashidi, Armin ; Amirzargar, Aliakbar. / Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy. In: Archives of Dermatological Research. 2009 ; Vol. 301, No. 10. pp. 719-723.
@article{292a4e722c8f4db6a55ed5ceeedd71cf,
title = "Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy",
abstract = "Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) is a well-known molecule that regulates T cell activity, with polymorphisms at different regions of this gene having been associated with autoimmune conditions. Pretibial myxedema (PTM), also called Graves' dermopathy, is an autoimmune extrathyroidal manifestation of Graves' disease. We opted to investigate the relationship between three single nucleotide polymorphisms of the CTLA-4 gene (+49A/G, and -318C/T and -1147C/T) and PTM in Iranian patients with Graves' ophthalmopathy (GO). A total of 105 unrelated Iranian patients with GO from the outpatient endocrine clinic of a large university general hospital as well as 103 healthy controls were studied. The genomic DNA was extracted from venous blood samples by a salting out method, and the polymorphisms at +49, -318 and -1147 positions of the CTLA-4 gene were determined using the polymerase chain reaction-restriction fragment length polymorphism method. The GG genotype (OR = 6.000, 95{\%} CI = 1.805-19.940, P = 0.005) and the G allele (OR = 2.653, 95{\%} CI = 1.314-5.357, P = 0.009) at position +49 were significantly associated with PTM in the patient group. The same genotype and allele were also significantly more common among patients (with or without PTM) than controls. No significant association was found for the other two polymorphisms. In conclusion, the +49G allele is associated with increased risk of PTM in patients with GO. Studies with larger sample sizes are needed to confirm the results of the present study.",
keywords = "CTLA-4 gene, Graves' dermopathy, Graves' disease, Polymorphism, Pretibial myxedema",
author = "Omid Khalilzadeh and {Mojazi Amiri}, Hoda and Maryam Tahvildari and Mehdi Anvari and Alireza Esteghamati and Zahra Mobarra and Zohreh Tehranchinia and Armin Rashidi and Aliakbar Amirzargar",
year = "2009",
month = "1",
day = "1",
doi = "10.1007/s00403-008-0919-1",
language = "English (US)",
volume = "301",
pages = "719--723",
journal = "Archives of Dermatological Research",
issn = "0340-3696",
publisher = "Springer Verlag",
number = "10",

}

TY - JOUR

T1 - Pretibial myxedema is associated with polymorphism in exon 1 of CTLA-4 gene in patients with Graves' ophthalmopathy

AU - Khalilzadeh, Omid

AU - Mojazi Amiri, Hoda

AU - Tahvildari, Maryam

AU - Anvari, Mehdi

AU - Esteghamati, Alireza

AU - Mobarra, Zahra

AU - Tehranchinia, Zohreh

AU - Rashidi, Armin

AU - Amirzargar, Aliakbar

PY - 2009/1/1

Y1 - 2009/1/1

N2 - Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) is a well-known molecule that regulates T cell activity, with polymorphisms at different regions of this gene having been associated with autoimmune conditions. Pretibial myxedema (PTM), also called Graves' dermopathy, is an autoimmune extrathyroidal manifestation of Graves' disease. We opted to investigate the relationship between three single nucleotide polymorphisms of the CTLA-4 gene (+49A/G, and -318C/T and -1147C/T) and PTM in Iranian patients with Graves' ophthalmopathy (GO). A total of 105 unrelated Iranian patients with GO from the outpatient endocrine clinic of a large university general hospital as well as 103 healthy controls were studied. The genomic DNA was extracted from venous blood samples by a salting out method, and the polymorphisms at +49, -318 and -1147 positions of the CTLA-4 gene were determined using the polymerase chain reaction-restriction fragment length polymorphism method. The GG genotype (OR = 6.000, 95% CI = 1.805-19.940, P = 0.005) and the G allele (OR = 2.653, 95% CI = 1.314-5.357, P = 0.009) at position +49 were significantly associated with PTM in the patient group. The same genotype and allele were also significantly more common among patients (with or without PTM) than controls. No significant association was found for the other two polymorphisms. In conclusion, the +49G allele is associated with increased risk of PTM in patients with GO. Studies with larger sample sizes are needed to confirm the results of the present study.

AB - Cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) is a well-known molecule that regulates T cell activity, with polymorphisms at different regions of this gene having been associated with autoimmune conditions. Pretibial myxedema (PTM), also called Graves' dermopathy, is an autoimmune extrathyroidal manifestation of Graves' disease. We opted to investigate the relationship between three single nucleotide polymorphisms of the CTLA-4 gene (+49A/G, and -318C/T and -1147C/T) and PTM in Iranian patients with Graves' ophthalmopathy (GO). A total of 105 unrelated Iranian patients with GO from the outpatient endocrine clinic of a large university general hospital as well as 103 healthy controls were studied. The genomic DNA was extracted from venous blood samples by a salting out method, and the polymorphisms at +49, -318 and -1147 positions of the CTLA-4 gene were determined using the polymerase chain reaction-restriction fragment length polymorphism method. The GG genotype (OR = 6.000, 95% CI = 1.805-19.940, P = 0.005) and the G allele (OR = 2.653, 95% CI = 1.314-5.357, P = 0.009) at position +49 were significantly associated with PTM in the patient group. The same genotype and allele were also significantly more common among patients (with or without PTM) than controls. No significant association was found for the other two polymorphisms. In conclusion, the +49G allele is associated with increased risk of PTM in patients with GO. Studies with larger sample sizes are needed to confirm the results of the present study.

KW - CTLA-4 gene

KW - Graves' dermopathy

KW - Graves' disease

KW - Polymorphism

KW - Pretibial myxedema

UR - http://www.scopus.com/inward/record.url?scp=70349613459&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=70349613459&partnerID=8YFLogxK

U2 - 10.1007/s00403-008-0919-1

DO - 10.1007/s00403-008-0919-1

M3 - Article

VL - 301

SP - 719

EP - 723

JO - Archives of Dermatological Research

JF - Archives of Dermatological Research

SN - 0340-3696

IS - 10

ER -