T-cell receptor β-subunit gene polymorphism and autoimmune disease

Niven, Mark; Caffrey, C.; Moore, Richard H.; Sachs, J. A.; Mohan, Viswanathan; Festenstein, H.; Hoover, Marie L.; Hitman, G. A.

doi:10.1016/0198-8859(90)90086-5

Cited by 28 publications

(5 citation statements)

References 13 publications

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“…A very common single nucleotide polymorphism (SNP; rs180907) in the promoter region of the beta T cell receptor was extensively studied in the 1990s and is associated with autoimmune diseases, such as insulin-dependent diabetes, autoimmune hepatitis, IgA nephropathy, membranous nephropathy, Graves' disease, and Hashimoto's thyroiditis (Niven et al 1990). All these studies were based on Southern blot analysis of restriction fragment length polymorphisms, obtained by cutting genomic DNA with the restriction enzyme BglII.…”

Section: Introductionmentioning

confidence: 99%

Different Allelic Distribution of a Single SNP Between Sexes in Humans

et al. 2008

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We searched for a difference in allele distribution between males and females of a single nucleotide polymorphism located in the human beta T-cell receptor, in 500 subjects (200 males and 300 females). Genotype analysis gave the following results: among the males, 114 (57%) were heterozygous for the T/C polymorphism, 52 (26%) were homozygous (T/T), and 34 (17%) were homozygous (C/C). Among the females, 142 (47.3%) were heterozygous, 73 (24.3%) were homozygous (T/T), and 85 (28.3%) were homozygous (C/C). The allele frequency was significantly different between sexes (chi2 = 8.799, P = 0.012).

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Section: Introductionmentioning

confidence: 99%

Different Allelic Distribution of a Single SNP Between Sexes in Humans

et al. 2008

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“…Gene polymorphisms, in particular single nucleotide polymorphisms (SNPs), have been associated to multifactorial diseases such as cancer, inflammation and autoimmunity (Niven et al ., 1990).…”

Section: Introductionmentioning

confidence: 99%

A possible mechanism for non‐replication of allelic association between a single nucleotide polymorphism of the human beta T‐cell receptor and autoimmune diseases

Tripputi¹,

Bianchi

Fedele

2008

Int J Immunogenetics

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Gene polymorphisms, in particular single nucleotide polymorphisms (SNPs), have been associated to multifactorial diseases such as cancer, inflammation and autoimmunity. Indeed for some autoimmune diseases, it has been possible to identify critical residues that play a major role in susceptibility to diseases. The association of a common T/C polymorphism in the promoter region of the beta 2 constant chain of the T-cell receptor with autoimmune diseases, such as insulin-dependent diabetes, autoimmune hepatitis, IgA nephropathy, membranous nephropathy, Graves' disease and Hashimoto's thyroiditis, was described in the 1990 s. These reports have not been confirmed in the last few years. We also failed in a previous study to detect any difference between 70 normal subjects and 70 patients with primary biliary cirrhosis; however, we found a difference in allelic frequency between males and females. This finding led us to make an allele frequency study of this single nucleotide polymorphism between sexes in a new series of patients. We studied 165 subjects, 80 males and 85 females, and we found a significant difference between sexes especially for the CC homozygous genotype: 34% of females vs. 14% of males (P = 0.008). If the higher frequency of CC homozygous genotype (that is associated with an increased risk of autoimmune diseases) in females would be confirmed in normal population, this could be an explanation of the controversial results obtained by association studies made between this SNP and autoimmune diseases.

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“…Others have found this association when this marker interacts with HLA genes (Hoover et al, 1989;Ito et al, 1989) or with immunoglobulin heavy chain region genes (Field et al, 1991). However, population studies, including our own, have not confirmed this association (Niven et al, 1990;Reijonen et al, 1990;Martinez-Naves et al, 1991a). Moreover, family data have found no association between Tcr a (Sheehy et al, 1989;Concannon et a / .…”

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confidence: 64%

T‐cell Receptor Α, Δ, and Γ Chain Genes in Insulin‐dependent Diabetes Mellitus

Martianez-Naves

Penta

Loapez-Larrea

1993

Int J Immunogenetics

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We have studied the genotypic, haplotypic, and allelic distribution of germline Restriction Fragment Length Polymorphism (RFLP) of T-cell receptor (Tcr) alpha, gamma, and delta loci in 75 insulin-dependent diabetes mellitus (IDDM) patients and 84 healthy blood donors as control population. The restriction endonuclease PvuII produces three allelic fragments of Tcr C gamma (TcrCG) gene segment of 16, 13, and 11.3 Kb respectively. Our observations revealed that PvuII/TcrCG RFLP allelic distributions were not significantly different in the IDDM and the control group. However, 85% of IDDM patients carried HLA DR3 and/or DR4 haplotypes, and when comparing these patients with a second group of HLA DR3+ and/or DR4+ healthy individuals, the 11.3 Kb/PvuII fragment of TcrCG gene was found to be associated with IDDM patients (chi 2 = 11.4, P = 0.003). 54.9% of IDDM patients carried at least one 11.3 Kb allele vs. 21% in controls (chi 2 = 10.77, P = 0.004). No significant association was found between RFLP in Tcr, C alpha, C delta, V gamma 9 loci and IDDM.

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T-cell receptor β-subunit gene polymorphism and autoimmune disease

Cited by 28 publications

References 13 publications

Different Allelic Distribution of a Single SNP Between Sexes in Humans

Different Allelic Distribution of a Single SNP Between Sexes in Humans

A possible mechanism for non‐replication of allelic association between a single nucleotide polymorphism of the human beta T‐cell receptor and autoimmune diseases

T‐cell Receptor Α, Δ, and Γ Chain Genes in Insulin‐dependent Diabetes Mellitus

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