CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults

Konstantinos Douroudis; Ele Prans; Raivo Uibo

doi:10.1016/j.humimm.2009.09.349

CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults

Konstantinos Douroudis^*, Ele Prans, Raivo Uibo

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

Abstract

The cytotoxic T lymphocyte antigen-4 (CTLA-4) molecule is an important regulator of T-cell activation and a susceptibility candidate for autoimmune diseases. To evaluate the impact of CTLA-4 promoter allelic variants of the CTLA-4 gene in latent autoimmune diabetes in adults (LADA), the MH30 (rs231806), -1147 (rs16840252), and -318 (rs5742909) single nucleotide polymorphisms (SNPs) were studied in a population of Estonian origin, including 61 LADA patients and 230 controls. The MH30 GG genotype (p = 0.0051) and the G allele (p = 0.0023) were significantly associated with LADA. The frequency distribution of alleles and genotypes of rs16840252 and rs5742909 SNPs were not significantly different between the patient and control groups. The frequency of the CTLA-4 GCC (p = 0.000073) haplotype was significantly higher in LADA patients, whereas the frequency of the CTLA-4 CCC (p = 0.0019) was significantly lower in LADA patients in comparison with the control group. The current study confirms the involvement of CTLA-4 gene promoter polymorphisms in the susceptibility of LADA and extends our previous findings of associations with other CTLA-4 polymorphisms.

Original language	English
Pages (from-to)	921-924
Number of pages	4
Journal	Human Immunology
Volume	70
Issue number	11
DOIs	https://doi.org/10.1016/j.humimm.2009.09.349
Publication status	Published - Nov 2009
Externally published	Yes

Keywords

CTLA-4
CTLA-4 promoter
LADA
SNP

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.humimm.2009.09.349

Cite this

@article{3a3c35cec509466c97f78e3fb26b66ac,

title = "CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults",

abstract = "The cytotoxic T lymphocyte antigen-4 (CTLA-4) molecule is an important regulator of T-cell activation and a susceptibility candidate for autoimmune diseases. To evaluate the impact of CTLA-4 promoter allelic variants of the CTLA-4 gene in latent autoimmune diabetes in adults (LADA), the MH30 (rs231806), -1147 (rs16840252), and -318 (rs5742909) single nucleotide polymorphisms (SNPs) were studied in a population of Estonian origin, including 61 LADA patients and 230 controls. The MH30 GG genotype (p = 0.0051) and the G allele (p = 0.0023) were significantly associated with LADA. The frequency distribution of alleles and genotypes of rs16840252 and rs5742909 SNPs were not significantly different between the patient and control groups. The frequency of the CTLA-4 GCC (p = 0.000073) haplotype was significantly higher in LADA patients, whereas the frequency of the CTLA-4 CCC (p = 0.0019) was significantly lower in LADA patients in comparison with the control group. The current study confirms the involvement of CTLA-4 gene promoter polymorphisms in the susceptibility of LADA and extends our previous findings of associations with other CTLA-4 polymorphisms.",

keywords = "CTLA-4, CTLA-4 promoter, LADA, SNP",

author = "Konstantinos Douroudis and Ele Prans and Raivo Uibo",

note = "Funding Information: We thank Dr. K. Haller-Kikkatalo, Dr. K. Kisand, and Dr. L. Salur from the Department of Immunology, University of Tartu, for help in preparing patient data and testing autoantibodies. We also thank Dr. V. Nemvalts from the Department of Internal Medicine, Kuressaare Hospital, for participating in materials collection. The study was supported by Estonian Science Foundation Grant 7749 and by EU grant ESTBIOREG and partly by the European Regional Development Fund and the Estonian Ministry of Education and Research.",

year = "2009",

month = nov,

doi = "10.1016/j.humimm.2009.09.349",

language = "English",

volume = "70",

pages = "921--924",

journal = "Human Immunology",

issn = "0198-8859",

number = "11",

}

TY - JOUR

T1 - CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults

AU - Douroudis, Konstantinos

AU - Prans, Ele

AU - Uibo, Raivo

N1 - Funding Information: We thank Dr. K. Haller-Kikkatalo, Dr. K. Kisand, and Dr. L. Salur from the Department of Immunology, University of Tartu, for help in preparing patient data and testing autoantibodies. We also thank Dr. V. Nemvalts from the Department of Internal Medicine, Kuressaare Hospital, for participating in materials collection. The study was supported by Estonian Science Foundation Grant 7749 and by EU grant ESTBIOREG and partly by the European Regional Development Fund and the Estonian Ministry of Education and Research.

PY - 2009/11

Y1 - 2009/11

N2 - The cytotoxic T lymphocyte antigen-4 (CTLA-4) molecule is an important regulator of T-cell activation and a susceptibility candidate for autoimmune diseases. To evaluate the impact of CTLA-4 promoter allelic variants of the CTLA-4 gene in latent autoimmune diabetes in adults (LADA), the MH30 (rs231806), -1147 (rs16840252), and -318 (rs5742909) single nucleotide polymorphisms (SNPs) were studied in a population of Estonian origin, including 61 LADA patients and 230 controls. The MH30 GG genotype (p = 0.0051) and the G allele (p = 0.0023) were significantly associated with LADA. The frequency distribution of alleles and genotypes of rs16840252 and rs5742909 SNPs were not significantly different between the patient and control groups. The frequency of the CTLA-4 GCC (p = 0.000073) haplotype was significantly higher in LADA patients, whereas the frequency of the CTLA-4 CCC (p = 0.0019) was significantly lower in LADA patients in comparison with the control group. The current study confirms the involvement of CTLA-4 gene promoter polymorphisms in the susceptibility of LADA and extends our previous findings of associations with other CTLA-4 polymorphisms.

AB - The cytotoxic T lymphocyte antigen-4 (CTLA-4) molecule is an important regulator of T-cell activation and a susceptibility candidate for autoimmune diseases. To evaluate the impact of CTLA-4 promoter allelic variants of the CTLA-4 gene in latent autoimmune diabetes in adults (LADA), the MH30 (rs231806), -1147 (rs16840252), and -318 (rs5742909) single nucleotide polymorphisms (SNPs) were studied in a population of Estonian origin, including 61 LADA patients and 230 controls. The MH30 GG genotype (p = 0.0051) and the G allele (p = 0.0023) were significantly associated with LADA. The frequency distribution of alleles and genotypes of rs16840252 and rs5742909 SNPs were not significantly different between the patient and control groups. The frequency of the CTLA-4 GCC (p = 0.000073) haplotype was significantly higher in LADA patients, whereas the frequency of the CTLA-4 CCC (p = 0.0019) was significantly lower in LADA patients in comparison with the control group. The current study confirms the involvement of CTLA-4 gene promoter polymorphisms in the susceptibility of LADA and extends our previous findings of associations with other CTLA-4 polymorphisms.

KW - CTLA-4

KW - CTLA-4 promoter

KW - LADA

KW - SNP

UR - http://www.scopus.com/inward/record.url?scp=70349964408&partnerID=8YFLogxK

U2 - 10.1016/j.humimm.2009.09.349

DO - 10.1016/j.humimm.2009.09.349

M3 - Article

C2 - 19735686

AN - SCOPUS:70349964408

SN - 0198-8859

VL - 70

SP - 921

EP - 924

JO - Human Immunology

JF - Human Immunology

IS - 11

ER -

CTLA-4 promoter polymorphisms are associated with latent autoimmune diabetes in adults

Abstract

Keywords

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this