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Stronger association with HLA-Cw6 than with corneodesmosin (S-gene) polymorphisms in Swedish psoriasis patients.

Artikel i vetenskaplig tidskrift
Författare Charlotta Enerbäck
Staffan Nilsson
Fredrik Enlund
Annica Inerot
Lena Samuelsson
Jan Wahlström
Gunnar Swanbeck
Tommy Martinsson
Publicerad i Archives of dermatological research
Volym 292
Nummer/häfte 11
Sidor 525-30
ISSN 0340-3696
Publiceringsår 2000
Publicerad vid Institutionen för särskilda specialiteter, Avdelningen för dermatologi och venereologi
Institutionen för matematik, Matematisk statistik
Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik
Sidor 525-30
Språk en
Länkar dx.doi.org/10.1007/s004030000175
Ämnesord Alleles, DNA, chemistry, genetics, Family Health, Female, Genotype, Glycoproteins, genetics, HLA-C Antigens, genetics, Haplotypes, Humans, Lod Score, Male, Microsatellite Repeats, Pedigree, Polymorphism, Genetic, Psoriasis, genetics, pathology, Sequence Analysis, DNA, Sweden
Ämneskategorier Medicin och Hälsovetenskap

Sammanfattning

Psoriasis vulgaris is strongly associated with certain human leukocyte antigens, especially in early onset. The purpose of this study was to study the HLA-Cw6 allele and its contribution to disease susceptibility in a set of 104 families with at least two affected siblings. A sequencing method was utilized to examine the two exons that build up the antigen binding site of the C locus receptor. DNA from patients homozygous for Cw6 based on haplotype information were sequenced. The results confirmed the identity of the Cw6 allele in affected individuals with the consensus sequence for Cw*0602. We screened the set of families for psoriasis patients homozygous for Cw6 and found 11 individuals with a mean age at onset of 16.1 years. The corresponding figure for the Cw6 heterozygotes was 18.45 years and for the Cw6-negatives 22.36 years. This is indicative of a gene dose effect. We performed a transmission disequilibrium test (TDT) on the Cw6 allele per se, used as a biallelic marker. The analysis resulted in a P-value of 5.3 x 10(-17) (t167/nt45). This greatly exceeds our previous results of a TDT in the region, including microsatellite markers and single nucleotide polymorphisms (SNPs) in the coding part of the S gene (corneodesmosin), which is a suggested candidate gene in the region. The maximum nonparametric linkage (NPL) value was also reached using HLA-C as a marker. We conclude that Cw6 is the allele which shows the highest degree of association with psoriasis in our set of families and we propose that it directly influences the age at onset of the disease rather than increasing the genetic load in accordance with a polygenic theory.

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