Background: Although psoriasis vulgaris (PV) is strongly associated with HLA Cw 0602, it has been proposed that the association of Cw 0602 is due to linkage disequilibrium and that other nearby genes are involved in P...Background: Although psoriasis vulgaris (PV) is strongly associated with HLA Cw 0602, it has been proposed that the association of Cw 0602 is due to linkage disequilibrium and that other nearby genes are involved in PV susceptibility The α helix coiled coil rod homologue (HCR) gene, located 110 kb telomeric to the HLA C locus, is presumed to be one of the PV candidate genes Recently, a 10 kb genomic segment, centromeric to HLA C, defined by two new single nucleotide polymorphisms (SNPs) n 7 A and n 9 C, was found to have a stronger association with psoriasis than the HCR gene Until now, no study of the association of the HCR gene, SNPs n 7, and n 9 has been conducted on Chinese patients with psoriasis Objectives: We aimed to determine whether the genetic polymorphisms of the HCR gene, SNPs n 7 A, and n 9 C were associated with an increased risk of psoriasis in Chinese patients Methods: Using direct sequencing of the HCR gene and the genomic region containing SNPs n 7 and n 9, we investigated the HCR gene, SNPs n 7, and n 9 for disease association in 115 Chinese patients with psoriasis and 103 control subjects The HCR SNPs were confirmed by denaturing high performance liquid chromatography Genotyping for HLA Cw 0602 was also carried out using sequence based typing Results: We observed a different allelic distribution between patient and control groups at nucleotide positions 386, 404, 1802 and 2406 of the HCR gene, and SNPs n 7, and n 9 The associations were much stronger in early onset PV patients (for HCR-386 T and HCR-404 T, odds ratio = 5 63, Pc < 0 0001) The HLA Cw 0602 also displayed a similar association with PV (odds ratio = 5 4, Pc < 0 0001) Moreover, SNP n 7 A, SNP n 9 C, Cw 0602, HCR-386 T, HCR-404 T and HCR-1802 T were in linkage disequilibrium with each other Haplotype based association analysis showed SNP n 7 A SNP n 9 C Cw 0602 HCR-386 T HCR-404 THCR-1802 T HCR-2406 G as a major susceptibility haplotype in this Chinese population (for early onset patients, odds ratio = 5 15, Pc < 0 0001) Conclusions: Our results indicate that the HCR gene, SNP n 7 A, and SNP n 9 C as well as Cw 0602 are major susceptibility markers for psoriasis in Chinese展开更多
文摘Background: Although psoriasis vulgaris (PV) is strongly associated with HLA Cw 0602, it has been proposed that the association of Cw 0602 is due to linkage disequilibrium and that other nearby genes are involved in PV susceptibility The α helix coiled coil rod homologue (HCR) gene, located 110 kb telomeric to the HLA C locus, is presumed to be one of the PV candidate genes Recently, a 10 kb genomic segment, centromeric to HLA C, defined by two new single nucleotide polymorphisms (SNPs) n 7 A and n 9 C, was found to have a stronger association with psoriasis than the HCR gene Until now, no study of the association of the HCR gene, SNPs n 7, and n 9 has been conducted on Chinese patients with psoriasis Objectives: We aimed to determine whether the genetic polymorphisms of the HCR gene, SNPs n 7 A, and n 9 C were associated with an increased risk of psoriasis in Chinese patients Methods: Using direct sequencing of the HCR gene and the genomic region containing SNPs n 7 and n 9, we investigated the HCR gene, SNPs n 7, and n 9 for disease association in 115 Chinese patients with psoriasis and 103 control subjects The HCR SNPs were confirmed by denaturing high performance liquid chromatography Genotyping for HLA Cw 0602 was also carried out using sequence based typing Results: We observed a different allelic distribution between patient and control groups at nucleotide positions 386, 404, 1802 and 2406 of the HCR gene, and SNPs n 7, and n 9 The associations were much stronger in early onset PV patients (for HCR-386 T and HCR-404 T, odds ratio = 5 63, Pc < 0 0001) The HLA Cw 0602 also displayed a similar association with PV (odds ratio = 5 4, Pc < 0 0001) Moreover, SNP n 7 A, SNP n 9 C, Cw 0602, HCR-386 T, HCR-404 T and HCR-1802 T were in linkage disequilibrium with each other Haplotype based association analysis showed SNP n 7 A SNP n 9 C Cw 0602 HCR-386 T HCR-404 THCR-1802 T HCR-2406 G as a major susceptibility haplotype in this Chinese population (for early onset patients, odds ratio = 5 15, Pc < 0 0001) Conclusions: Our results indicate that the HCR gene, SNP n 7 A, and SNP n 9 C as well as Cw 0602 are major susceptibility markers for psoriasis in Chinese
