Dinucleotide repeat polymorphism in the human CD40 ligand gene

Allen, R. Cutler; Spriggs, Melanie K.; Belmont, John W.

doi:10.1093/hmg/2.6.828-a

Cited by 21 publications

(15 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This is the first description of CD154 allelic distribution in Spaniards. Genetic studies of CA repeats in this gene, performed in other populations [Caucasian and North American black females, French and German ( Allen et al. , 1993 ; DiSanto et al.…”

Section: Discussionmentioning

confidence: 99%

“…, 1994 ). With regard to the CA repeats, allelic distribution is different in several populations: Caucasian and North American black females ( Allen et al. , 1993 ), French ( DiSanto et al.…”

Section: Introductionmentioning

confidence: 99%

“…Genetic studies in CD154 have focused on the Xlinked Hyper-IgM syndrome, where some different mutations have been found (Kroczek et al , 1994). With regard to the CA repeats, allelic distribution is different in several populations: Caucasian and North American black females (Allen et al , 1993), French (DiSanto et al , 1994 and German (Gomolka et al , 1995). Due to the usefulness of these regions as disease markers and the essential role of the CD154 in immune regulation, we have studied this polymorphism in two Spanish populations.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

CD154 polymorphism in Spanish populations. Differences in the allelic distribution between Canary Islanders and Peninsulars

Cítores¹,

Pérez-Aciego²,

Rodríguez-Gallego

et al. 2000

European Journal of Immunogenetics

View full text Add to dashboard Cite

The CD154 gene contains a dinucleotide repeat (CA)n in the 3' untranslated region. Allelic distribution in Spanish populations from two areas with different genetic background, the Canary Islands and Peninsula, are described. Seven alleles with different allelic distribution between the two groups, were found. This represents a highly polymorphic marker, useful for genetic studies on a critical molecule in immunity.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

CD154 polymorphism in Spanish populations. Differences in the allelic distribution between Canary Islanders and Peninsulars

Cítores¹,

Pérez-Aciego²,

Rodríguez-Gallego

et al. 2000

European Journal of Immunogenetics

View full text Add to dashboard Cite

show abstract

“…The most reliable assay for carrier detection remains direct mutation analysis, searching for heterozygosity for the specific mutation that causes the disease in each single family. Alternatively, for families with obvious X‐linked inheritance, linkage analysis at two microsatellites at the 3′ end of the CD40L gene can also be used [ 79, 80].…”

Section: Clinical Management and Genetic Counsellingmentioning

confidence: 99%

X-linked immunodeficiency with hyper-IgM (XHIM)

Notarangelo

Hayward

2000

Clinical and Experimental Immunology

124

114

View full text Add to dashboard Cite

“…Since the repeat length variation correlates strongly with the V region polymorphism of the TCRBV6SI and TCRBV6S7 elements, typing of expressed genes could be performed by microsatellite analysis [12]. In this study DNA of 183 RA patients and 275 controls were screened with microsatellite markers of ten immunorelevant loci (three TCRBV6 loci [12], an intergenic region of the TCRDA gene [5,12], CD3D [33], IL2 and IL5R [9], IL1A [10], TNFa [33], and CD40L [1]) to identify the relevant genetic regions predisposing for RA manifestation. Secondly, candidate genes located in this genomic region are characterized.…”

Section: Introductionmentioning

confidence: 99%

Immunoprinting: various genes are associated with increased risk to develop rheumatoid arthritis in different groups of adult patients

Gomolka

Menninger²,

Saal

et al. 1995

J Mol Med

View full text Add to dashboard Cite

To identify genes that contribute to the manifestation of rheumatoid arthritis we performed association studies via microsatellite analyses of immunorelevant loci (HLA-DRB, 5 T cell receptor loci, TNFa IL1, IL2, IL5R and CD40L). A total of 183 patients and 275 healthy controls were typed in terms of HLA and grouped according to the known predisposing HLA-DRB1 genes (DRB1*04; relative risk approx. 5; DRB1*01, relative risk approx. 2; a third group carried neither allele). Microsatellite polymorphisms characterizing the TCRBV6S3, CD3D, IL1A, IL2, and IL5R genes did not show significant associations with rheumatoid arthritis, whereas TCRBV6S1, TCRBV6S7, TNFa, and CD40L genes may influence relative protection or risk in certain groups of patients. Analysis of a microsatellite marker adjacent to the transcription element alpha (TEA) in the T cell receptor alpha delta complex indicates that in the cohort carrying neither the DRB1*04 nor the DRB1*01 allele the relative risk to acquire rheumatoid arthritis is increased (> 13) or decreased (< 0.07), depending on the inherited microsatellite allele adjacent to the TEA locus. Sequence analysis of the closely linked TEA region from patients and controls revealed a novel dimorphism. Only the newly identified TEA allele leads to binding of a nuclear protein that may be involved in the regulated expression of the TCRDA genes. Subsequent typing of rheumatoid arthritis patients and controls revealed, however, that the association of the microsatellite marker is largely independent of the TEA allele, confirming incomplete linkage in the 2 kb region of the TCRDA locus. These results are discussed in the context of hot spots of recombination in this genomic region and other linked candidate sequences that predispose to develop rheumatoid arthritis.

show abstract

Dinucleotide repeat polymorphism in the human CD40 ligand gene

Cited by 21 publications

References 0 publications

CD154 polymorphism in Spanish populations. Differences in the allelic distribution between Canary Islanders and Peninsulars

CD154 polymorphism in Spanish populations. Differences in the allelic distribution between Canary Islanders and Peninsulars

X-linked immunodeficiency with hyper-IgM (XHIM)

Immunoprinting: various genes are associated with increased risk to develop rheumatoid arthritis in different groups of adult patients

Contact Info

Product

Resources

About