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• W2039114570 abstract "To the Editor: In a recent report Asumalahti et al identified 12 coding variants within gene HCR (Pg8) of the HLA class I region on chromosome 6 (Asumalahti et al., 2000Asumalahti K. Laitinen T. Itkonen-Vatjus R. et al.A candidate gene for psoriasis near HLA-C, HCR (Pg8) is highly polymorphic with a disease-associated susceptibility allele.Hum Mol Genet. 2000; 9: 1533-1542https://doi.org/10.1093/hmg/9.10.1533Crossref PubMed Scopus (118) Google Scholar). Two of these variants, C→T transitions at nucleotide positions of 251 and 269, form an allele (the “TT allele”) that is strongly associated with psoriasis. Based on this finding, it was suggested that HCR may have a role in the pathogenesis of psoriasis. We recently reported the fine mapping of the PSORS1 susceptibility locus to a 60 kb segment of the HLA class I region, between the HLA-C and corneodesmosin (CDSN) genes (Nair et al., 2000Nair R.P. Stuart P. Henseler T. et al.Localization of psoriasis-susceptibility locus PSORS1 to a 60-kb interval telomeric to HLA-C.Am J Hum Genet. 2000; 66: 1833-1844https://doi.org/10.1086/302932Abstract Full Text Full Text PDF PubMed Scopus (217) Google Scholar). Using 34 closely spaced microsatellite markers, we identified 66 relatively homogeneous clusters of haplotypes in 478 families and examined their association with psoriasis by the transmission/disequilibrium test. We found that cluster numbers 17–25 conferred risk for psoriasis and possessed identical alleles at eight contiguous markers spanning the 60 kb interval, which we termed risk haplotype 1 (RH1). RH1 is in strong disequilibrium with HLA-Cw6 in clusters 18–25 and with HLA-Cw8 in cluster 17. All risk haplotype clusters in our sample carried RH1, but none of the nonrisk clusters did. Due to the close proximity of RH1 to the HCR gene (the telomeric end of RH1 lies only 25 kb from the centromeric end of HCR), we wished to determine whether the psoriasis risk haplotypes we identified carry the HCR candidate allele identified by Asumalahti et al and whether the nonrisk haplotypes do not. We PCR amplified exon 2 of the HCR gene from genomic DNA of 32 individuals representative of the seven most common risk and five most common nonrisk haplotypes in our sample using the primers CAC CTG CAC TAA CCT GTC TTTG and TTT CTA CCC CTG CAT TCA CC from Asumalahti et al. The gel-purified PCR products were directly sequenced for the region containing HCR nucleotides 251 and 269. The results (Table I) show that chromosomes bearing risk haplotypes 17 and 18 carry C at nucleotides 251 and 269, whereas risk clusters 19, 21, 22, 23, and 25 carry T at these positions. Among nonrisk clusters, cluster 26 carried T at both positions in all subjects; the remaining nonrisk clusters carried C at both positions. Because haplotype clusters 17 and 18 confer risk but do not carry the C→T variants at nucleotides 251 or 269 of HCR, and because haplotype cluster 26 does not confer risk but does carry these C→T variants, we conclude that these variations in HCR are not causal for psoriasis. Rather, the observed disease association reflects the existence of strong linkage disequilibrium between HCR and PSORS1. Asumalahti et al observed that the Cw*0602 allele at HLA-C conferred a higher relative risk for psoriasis than did the TT allele of HCR. This observation is readily explained by our observations: cluster 26, which carries HLA-Cw7, HLA-B8, and the TT allele of HCR, does not confer risk but is one of the most common HLA B/C haplotypes in Caucasians (Tsuji et al., 1992Tsuji K. Aizawa M. Sasazuki T.H.L.A. 1991: Proceedings of the Eleventh International Histocompatibility Workshop and Conference. Oxford University Press, Oxford1992: 1220Google Scholar). The high prevalence of cluster 26 therefore “dilutes” the relative risk associated with carriage of the TT allele at HCR. In contrast, possession of RH1 confers higher risk for psoriasis than does possession of HLA-Cw6 (Nair et al., 2000Nair R.P. Stuart P. Henseler T. et al.Localization of psoriasis-susceptibility locus PSORS1 to a 60-kb interval telomeric to HLA-C.Am J Hum Genet. 2000; 66: 1833-1844https://doi.org/10.1086/302932Abstract Full Text Full Text PDF PubMed Scopus (217) Google Scholar).Table IHLA and HCR alleles associated with microsatellite haplotype clustersHLA Class I haplotypeHaplotype clusterAssociation with psoriasisNumber haplotypes testedHLA-BHLA-CRH1HCR nt 251HCR nt 269Risk clusters 17+5658+CC 18+4456+CC 19+5various6+TT 21+5136+TT 22+5136+TT 23+5376+TT 25+5576+TTNon-risk clusters 14–577–CC 26–587–TT 48–4623–CC 56–54416–CC 63–4445–CC Open table in a new tab This work was supported by the United States Public Health Service (USPHS) awards P30 HG00209–03 and R01 AR4274–01 (JTE, RPN, JJ5, NJS), by award DFG-WE 905/1–1 from the German Research Foundation (TH, SJ, EC), by the Ann Arbor 5eterans Administration Hospital (JTE), and by the Babcock Memorial Trust. Portions of these studies were conducted at the General Clinical Research Center at the University of Michigan, funded by a grant (M01EE00042) from the National Center for Research Resources, National 1nstitutes of Health, USPHS." @default.
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• W2039114570 title "Variations in the HCR (Pg8) Gene are Unlikely to be Causal for Familial Psoriasis" @default.
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