Cytotoxic T lymphocyte-associated antigen-4 gene promoter polymorphisms in patients with systemic lupus erythematosus in southern Chinese population

Shu Na Gao, Zong Min Jiang, Wei Meng, Feng Jiang, Wei Min Gu, Wei Zhong Hu, Chao Wei Fu, Ai Er Xu, Shenghan Lai

Research output: Contribution to journalArticle

Abstract

Purpose To assess the association between polymorphisms within Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter and the morbidity of systemic lupus erythematosus (SLE) in Chinese people. Methods A case-control led study was performed for CTLA-4 polymorphisms, -1722 T)C and -318 C)T in the promoter region in 97 patients with SLE and 200 healthy individuals. We examined the CTLA-4 genotype of these subjects by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results There was a significant difference in -1722 T)C genotype frequencies between the two groups (P = 0. 002). Carrier frequencies of the -1722 T allele in the promoter were significantly increased in SLE patients compared with those in con-trois (odds ratio= 1. 94, 95% confidence interval: 1. 34 - 2. 80, P = 0. 000). There was no difference in -318 C)T genetype and allele frequencies between the two groups. However, there was a linkage disequilibrium between the -1722 T)C and -318 C)T. There was a significant difference in CTLA-4 haplotype distribution between the two groups (χ2 = 12.64, P = 0. 005) , which the relative high proportion was T-C haplotype (P = 0. 001) and the less one was C-C haplotype (P = 0. 002) in SLE group, compared to control group. Conclusions The -1722 T)C in the promoter of CTLA-4 was determined to be susceptible to SLE in southern Chinese population. Although the result showed that -318 C)T was not responsible for SLE, the T-C haplotype might be a susceptible haplotype and C-C haplotype a protective one in southern Chinese population.

Original languageEnglish (US)
Pages (from-to)193-197
Number of pages5
JournalFudan University Journal of Medical Sciences
Volume34
Issue number2
StatePublished - Mar 2007

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CTLA-4 Antigen
Systemic Lupus Erythematosus
Haplotypes
Population
Genes
Genotype
Linkage Disequilibrium
Genetic Promoter Regions
Gene Frequency
Restriction Fragment Length Polymorphisms
Case-Control Studies
Alleles
Odds Ratio
Confidence Intervals
Morbidity
Polymerase Chain Reaction
Control Groups

Keywords

  • Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4)
  • Single nucleotide polymorphism (SNP)
  • Systemic lupus erythematosus(SLE)

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Cytotoxic T lymphocyte-associated antigen-4 gene promoter polymorphisms in patients with systemic lupus erythematosus in southern Chinese population. / Gao, Shu Na; Jiang, Zong Min; Meng, Wei; Jiang, Feng; Gu, Wei Min; Hu, Wei Zhong; Fu, Chao Wei; Xu, Ai Er; Lai, Shenghan.

In: Fudan University Journal of Medical Sciences, Vol. 34, No. 2, 03.2007, p. 193-197.

Research output: Contribution to journalArticle

Gao, Shu Na ; Jiang, Zong Min ; Meng, Wei ; Jiang, Feng ; Gu, Wei Min ; Hu, Wei Zhong ; Fu, Chao Wei ; Xu, Ai Er ; Lai, Shenghan. / Cytotoxic T lymphocyte-associated antigen-4 gene promoter polymorphisms in patients with systemic lupus erythematosus in southern Chinese population. In: Fudan University Journal of Medical Sciences. 2007 ; Vol. 34, No. 2. pp. 193-197.
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abstract = "Purpose To assess the association between polymorphisms within Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter and the morbidity of systemic lupus erythematosus (SLE) in Chinese people. Methods A case-control led study was performed for CTLA-4 polymorphisms, -1722 T)C and -318 C)T in the promoter region in 97 patients with SLE and 200 healthy individuals. We examined the CTLA-4 genotype of these subjects by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results There was a significant difference in -1722 T)C genotype frequencies between the two groups (P = 0. 002). Carrier frequencies of the -1722 T allele in the promoter were significantly increased in SLE patients compared with those in con-trois (odds ratio= 1. 94, 95{\%} confidence interval: 1. 34 - 2. 80, P = 0. 000). There was no difference in -318 C)T genetype and allele frequencies between the two groups. However, there was a linkage disequilibrium between the -1722 T)C and -318 C)T. There was a significant difference in CTLA-4 haplotype distribution between the two groups (χ2 = 12.64, P = 0. 005) , which the relative high proportion was T-C haplotype (P = 0. 001) and the less one was C-C haplotype (P = 0. 002) in SLE group, compared to control group. Conclusions The -1722 T)C in the promoter of CTLA-4 was determined to be susceptible to SLE in southern Chinese population. Although the result showed that -318 C)T was not responsible for SLE, the T-C haplotype might be a susceptible haplotype and C-C haplotype a protective one in southern Chinese population.",
keywords = "Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4), Single nucleotide polymorphism (SNP), Systemic lupus erythematosus(SLE)",
author = "Gao, {Shu Na} and Jiang, {Zong Min} and Wei Meng and Feng Jiang and Gu, {Wei Min} and Hu, {Wei Zhong} and Fu, {Chao Wei} and Xu, {Ai Er} and Shenghan Lai",
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T1 - Cytotoxic T lymphocyte-associated antigen-4 gene promoter polymorphisms in patients with systemic lupus erythematosus in southern Chinese population

AU - Gao, Shu Na

AU - Jiang, Zong Min

AU - Meng, Wei

AU - Jiang, Feng

AU - Gu, Wei Min

AU - Hu, Wei Zhong

AU - Fu, Chao Wei

AU - Xu, Ai Er

AU - Lai, Shenghan

PY - 2007/3

Y1 - 2007/3

N2 - Purpose To assess the association between polymorphisms within Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter and the morbidity of systemic lupus erythematosus (SLE) in Chinese people. Methods A case-control led study was performed for CTLA-4 polymorphisms, -1722 T)C and -318 C)T in the promoter region in 97 patients with SLE and 200 healthy individuals. We examined the CTLA-4 genotype of these subjects by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results There was a significant difference in -1722 T)C genotype frequencies between the two groups (P = 0. 002). Carrier frequencies of the -1722 T allele in the promoter were significantly increased in SLE patients compared with those in con-trois (odds ratio= 1. 94, 95% confidence interval: 1. 34 - 2. 80, P = 0. 000). There was no difference in -318 C)T genetype and allele frequencies between the two groups. However, there was a linkage disequilibrium between the -1722 T)C and -318 C)T. There was a significant difference in CTLA-4 haplotype distribution between the two groups (χ2 = 12.64, P = 0. 005) , which the relative high proportion was T-C haplotype (P = 0. 001) and the less one was C-C haplotype (P = 0. 002) in SLE group, compared to control group. Conclusions The -1722 T)C in the promoter of CTLA-4 was determined to be susceptible to SLE in southern Chinese population. Although the result showed that -318 C)T was not responsible for SLE, the T-C haplotype might be a susceptible haplotype and C-C haplotype a protective one in southern Chinese population.

AB - Purpose To assess the association between polymorphisms within Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) gene promoter and the morbidity of systemic lupus erythematosus (SLE) in Chinese people. Methods A case-control led study was performed for CTLA-4 polymorphisms, -1722 T)C and -318 C)T in the promoter region in 97 patients with SLE and 200 healthy individuals. We examined the CTLA-4 genotype of these subjects by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results There was a significant difference in -1722 T)C genotype frequencies between the two groups (P = 0. 002). Carrier frequencies of the -1722 T allele in the promoter were significantly increased in SLE patients compared with those in con-trois (odds ratio= 1. 94, 95% confidence interval: 1. 34 - 2. 80, P = 0. 000). There was no difference in -318 C)T genetype and allele frequencies between the two groups. However, there was a linkage disequilibrium between the -1722 T)C and -318 C)T. There was a significant difference in CTLA-4 haplotype distribution between the two groups (χ2 = 12.64, P = 0. 005) , which the relative high proportion was T-C haplotype (P = 0. 001) and the less one was C-C haplotype (P = 0. 002) in SLE group, compared to control group. Conclusions The -1722 T)C in the promoter of CTLA-4 was determined to be susceptible to SLE in southern Chinese population. Although the result showed that -318 C)T was not responsible for SLE, the T-C haplotype might be a susceptible haplotype and C-C haplotype a protective one in southern Chinese population.

KW - Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4)

KW - Single nucleotide polymorphism (SNP)

KW - Systemic lupus erythematosus(SLE)

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JO - Fudan University Journal of Medical Sciences

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