The phylogenies of introns 4–7 demonstrate an inconsistent pattern between human leukocyte antigen‐C group topologies

Elsner, Holger-Andreas; Blasczyk, Rainer

doi:10.1111/j.1399-0039.2004.00165.x

Cited by 10 publications

(7 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The HLA‐C allelic group can be divided into lineages and families, including the C*06 / C*12 family. HLA‐C*06:02 , C*12:02 , C*12:03 , and C*12:04 share identical sequences in all 3' introns (introns 4–7) . Helms et al .…”

Section: Discussionmentioning

confidence: 99%

“…HLA-C*06:02, C*12:02, C*12:03, and C*12:04 share identical sequences in all 3' introns (introns 4-7). 39 Helms et al found HLA-C*12:03 on a rare overtransmitted haplotype in Northern European psoriasis families, and referred to a potential binding site for the RUNX/AML family of transcription factors in intron 7. 40 In this study we constructed a phylogenic tree of HLA-C alleles in more details.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

HLA‐C12:02* is a susceptibility factor in late‐onset type of psoriasis in Japanese

Mabuchi

Ota

Manabe

et al. 2014

The Journal of Dermatology

View full text Add to dashboard Cite

Psoriasis is thought to be a multifactorial disease triggered by both genetic and environmental factors. The HLA-C locus on chromosome 6p21.33 remains the strongest susceptibility candidate locus in psoriasis. The strong association between psoriasis and the HLA-Cw6 allele has been well documented in various races. It is known that psoriatic patients with early onset are more likely to be familial and associated with HLA-Cw6. Familial occurrence of Japanese psoriasis is smaller than other populations. Furthermore, males are predominant over females in Japanese psoriasis. We investigated the relation between HLA-C alleles and age of onset, and in each gender for Japanese psoriasis, and discuss male predominance in the incidence of psoriasis in Japan. Four hundred forty six unrelated Japanese patients with psoriasis vulgaris and 557 sex- and age-matched unrelated Japanese healthy controls were investigated by genotyping. We confirmed the association between early-onset type of psoriasis with HLA-C*06:02 allele in Japanese. In addition, we detected the association between the late-onset type of psoriasis and the HLA-C*12:02 allele in Japanese. No significant differences in allele frequency were observed between females and males. Our results suggest that there is no genetic factor effect on male predominance in Japanese. In contract, the effect of environmental risk factors on the onset of Japanese psoriatic patients is stronger in males than in females. As a result, male predominant in psoriasis may occur in Japan.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

HLA‐C12:02* is a susceptibility factor in late‐onset type of psoriasis in Japanese

Mabuchi

Ota

Manabe

et al. 2014

The Journal of Dermatology

View full text Add to dashboard Cite

show abstract

“…This is of interest since DNA resequencing of introns of different HLA-C alleles has led to the proposal that there is a Cw*06/Cw*12 family on the basis of complete sequence identity between these alleles in all 3¢ introns (Elsner and Blasczyk 2004). HLA-Cw*0602 and HLA-Cw*1203 differ by only five amino acid replacements in total, and all occur in the alpha-1 domain encoded by exons 2 with differences at residues 9, 24, 77, 80 and 90.…”

Section: Discussionmentioning

confidence: 99%

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

et al. 2005

View full text Add to dashboard Cite

Psoriasis is a complex inflammatory disease of the skin affecting 1-2% of the Caucasian population. Associations with alleles from the HLA class I region (now known as PSORS1), particularly HLA-Cw*0602, were described over 20 years ago. However, extensive linkage disequilibrium (LD) within this region has made it difficult to identify the true susceptibility allele from this region. A variety of genes and regions from a 238-kb interval extending from HLA-B to corneodesmosin (CDSN) have been proposed to harbor PSORS1. In order to identify the minimum block of LD in the MHC class I region associated with psoriasis we performed a comprehensive case/control and family-based association study on 242 Northern European psoriasis families and two separate European control populations. High resolution HLA typing of HLA-A, -B and -C alleles was performed, in addition to the genotyping of 18 polymorphic microsatellites and 36 SNPs from a 772-kb segment of the HLA class I region harboring the previously described interval. This corresponded on average to one SNP every 7 kb in the candidate 238 kb region. With all tests, the association was the strongest with single markers and haplotypes from a block of LD harboring HLA-C and SNP n.9. Logistic regression analyses indicated that association seen with candidate genes from the interval such as CDSN and HCR was entirely dependent on association with HLA-Cw*0602 and SNP n.9-G alleles. The previously reported association with CDSN and HCR was observed to be due to the existence of the associated alleles lying on the most commonly over-transmitted haplotype. Rare over-transmitted haplotypes also harbored HLA-Cw*12 alleles. HLA-Cw*12 family members are closely related to HLA Cw*0602, sharing identical sequences in their alpha-2 domains, peptide-binding pockets A, D and E and all 3' introns. The introduction of a potential binding site for the RUNX/AML family of transcription factors in intron 7, is also specific to these HLA-C alleles. These variants need to be investigated further for their role as PSORS1.

show abstract

“…In the remaining five cases, the differences were located in intron 2 and were noticed during RSCA analysis, because the PCR product encompassing exon 2, intron 2, and exon 3 showed a change in elution time compared to the original allele (11). In a recent study of the intron 4–7 sequences of HLA‐C, three novel intronic variants have been identified (45). For class II, only one allele, DRB4*01030102N, has been observed with a difference in the non‐coding sequence, which changed the normal splice site for exon 2 and resulted in alternative splicing and nonexpression of the allele (46).…”

Section: Discussionmentioning

confidence: 99%

Allelic polymorphism in introns 1 and 2 of the HLA‐DQA1 gene

et al. 2005

View full text Add to dashboard Cite

Human leukocyte antigen (HLA) class II antigens are highly polymorphic membrane glycoproteins, encoded by the A and B genes of DR, DQ, and DP. The polymorphism is mainly located in exon 2, with the exception of DQA1. Of the 27 DQA1 alleles presently known, 18 cannot be identified on the basis of exon 2 alone, but need additional information from the other exons. DQA1 has been reported to be the most ancient class II gene. For evolutionary comparison and to assess the degree of polymorphism outside the exons, the sequences of introns 1 and 2 were determined from 30 different cell lines, encompassing 15 different DQA1 alleles. The sequences revealed major nucleotide differences between the different lineages, whereas within each lineage few differences were present. Phylogenetic analysis of intron and exon sequences confirmed this lineage specificity. Altogether, the present data indicate that the HLA-DQA1 lineages represent ancient entities. The observed variation of the introns in alleles with identical exon sequences implicates conservative selection of the exons within a given lineage. Intron sequences may provide the means to set up an accurate typing system.

show abstract

The phylogenies of introns 4–7 demonstrate an inconsistent pattern between human leukocyte antigen‐C group topologies

Cited by 10 publications

References 29 publications

HLA‐C12:02* is a susceptibility factor in late‐onset type of psoriasis in Japanese

HLA‐C12:02* is a susceptibility factor in late‐onset type of psoriasis in Japanese

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Allelic polymorphism in introns 1 and 2 of the HLA‐DQA1 gene

Contact Info

Product

Resources

About

The phylogenies of introns 4–7 demonstrate an inconsistent pattern between human leukocyte antigen‐C group topologies

Cited by 10 publications

References 29 publications

HLA‐C*12:02 is a susceptibility factor in late‐onset type of psoriasis in Japanese

HLA‐C*12:02 is a susceptibility factor in late‐onset type of psoriasis in Japanese

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR

Allelic polymorphism in introns 1 and 2 of the HLA‐DQA1 gene

Contact Info

Product

Resources

About

HLA‐C12:02* is a susceptibility factor in late‐onset type of psoriasis in Japanese

HLA‐C12:02* is a susceptibility factor in late‐onset type of psoriasis in Japanese