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1.
Genet Mol Res ; 16(1)2017 Mar 15.
Article in English | MEDLINE | ID: mdl-28301668

ABSTRACT

Previously, we determined that the CARD11 rs4722404 single nucleotide polymorphism (SNP) increases risk of early-onset psoriasis vulgaris (PsV). Moreover, the CARD14 gene polymorphism c.C2458T (p.Arg820Trp) is associated with clinical features of this disease. CARMA1/CARD11, CARMA2/CARD14, and CARMA3/CARD10 are conserved across many species and constitute a family of proteins, all of the members of which contain various functional domains characteristic of this group. The NF-κB signaling pathway, regulated by the CARMA family of scaffold proteins and its eponymous component, is a crucial mediator in the pathogenesis of psoriasis. However, little is known about the association between CARMA3/CARD10 and PsV. The aim of this study was to evaluate the relationship between the gene encoding this protein and risk of PsV in the southern Han Chinese population. Genomic DNA from 568 individuals of southern Chinese origin, including 355 patients with PsV and 213 control subjects, was analyzed. We selected seven tag SNPs in the CARMA3/CARD10 gene and genotyped them by the SNaPshot assay. Our results identified no significant association between these SNPs and PsV in the Chinese population examined. Future studies should focus on the potential function of the CARMA3/CARD10 gene in the pathogenesis of PsV.


Subject(s)
CARD Signaling Adaptor Proteins/genetics , Adult , Asian People/genetics , Case-Control Studies , China , Female , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Psoriasis , Risk , Sequence Analysis, DNA
2.
Genet Mol Res ; 15(3)2016 Aug 19.
Article in English | MEDLINE | ID: mdl-27706581

ABSTRACT

Recent genetic evidence suggests a robust association of the CARD14 single nucleotide polymorphism rs11652075 (c.C2458T/p.Arg820Trp) and other rare mutations in this gene with psoriasis. To assess whether combined data support the relationship between CARD14 rs11652075 and susceptibility to this disease, we conducted a meta-analysis. PubMed (MEDLINE), EMBASE, Web of Science, and the Cochrane Library were searched for relevant papers published in English. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using random-effect models. Heterogeneity between studies was assessed using the Cochran's Q and I2 statistics. A total of five published studies, including 32,807 psoriasis patients and 45,458 controls, met our inclusion criteria and were included in the meta-analysis. The pooled OR of the association between the minor allele of this polymorphism and psoriasis was 0.877 (95%CI = 0.834-0.922; P < 0.001). In a stratified analysis, pooled ORs relating to European and Asian ancestry were 0.883 (95%CI = 0.822-0.948) and 0.872 (95%CI = 0.812-0.936), respectively. Those calculated for studies with case sample sizes above and below 1000 were 0.912 (95%CI = 0.870- 0.956) and 0.824 (95%CI = 0.734-0.924), respectively. No publication bias was present, and the exclusion of any single dataset did not substantially alter the corresponding pooled ORs. Due to the limited data available regarding clinical classification of cases and genotypes, subgroup stratification by clinical type was not performed. Our results demonstrate a significant association between the CARD14 rs11652075 polymorphism and psoriasis.


Subject(s)
CARD Signaling Adaptor Proteins/genetics , Guanylate Cyclase/genetics , Membrane Proteins/genetics , Mutation, Missense , Psoriasis/genetics , Asian People/genetics , CARD Signaling Adaptor Proteins/metabolism , Case-Control Studies , Genetic Association Studies , Genetic Predisposition to Disease , Guanylate Cyclase/metabolism , Humans , Membrane Proteins/metabolism , Odds Ratio , Polymorphism, Single Nucleotide , Risk Factors , White People/genetics
3.
Genet Mol Res ; 15(2)2016 Jul 14.
Article in English | MEDLINE | ID: mdl-27421022

ABSTRACT

Genome-wide association studies have identified a single nucleotide polymorphism (SNP), rs4722404, in the caspase recruitment domain family member 11 (CARD11) gene, which is associated with atopic dermatitis. Previous genetic studies have also reported genomic similarities between psoriasis and atopic dermatitis. However, little is known regarding the association between rs4722404 and psoriasis vulgaris (PsV). The aim of this study was to evaluate the relationship between rs4722404 and the risk and clinical features of PsV in a southern Chinese Han cohort. This hospital-based case-control study included 355 patients with PsV and 213 control subjects (N = 568); the samples were analyzed using a standard SNaPshot assay. We identified no association between the SNP and risk of PsV. However, a stratified analysis according to the age of onset, family history, and psoriasis area and severity index sub-phenotypes revealed a significant correlation between the C allele and CC+CT genotype of rs4722404 and an increased risk of early-onset PsV (≤40 years) compared to that of late-onset PsV (>40 years) (odds ratio, OR = 1.486; P = 0.026 for C allele and OR = 1.718, P = 0.023 for CC+CT genotype). The results of this study suggested that the SNP rs4722404 in CARD11 could increase the risk of early-onset PsV. Further studies must analyze the potential function of CARD11 in the pathogenesis of PsV.


Subject(s)
Asian People/genetics , CARD Signaling Adaptor Proteins/genetics , Guanylate Cyclase/genetics , Psoriasis/genetics , Adult , Alleles , CARD Signaling Adaptor Proteins/metabolism , Case-Control Studies , China , Cohort Studies , Dermatitis, Atopic/genetics , Ethnicity/genetics , Female , Gene Frequency , Genetic Predisposition to Disease , Guanylate Cyclase/metabolism , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide
4.
Genet Mol Res ; 13(3): 7587-92, 2014 Sep 12.
Article in English | MEDLINE | ID: mdl-25222259

ABSTRACT

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa (DEB). This disease is characterized by severe itching, lichenoid nodules or prurigo-like lesions, and linear scarring with a predilection for the extensor limbs. Pathogenic mutations in the type VII collagen alpha 1 (COL7A1) gene have been identified. We analyzed mutations in the COL7A1 gene in a Chinese family including 5 affected individuals with typical DEB-Pr and in a patient previously reported with sporadic DEB-Pr. The entire coding region and exon-intron boundaries of COL7A1 were detected by polymerase chain reaction and direct sequencing. We identified one novel heterozygote mutation (c.6842G>T, p.G2281V) and a second mutation (c.5443G>A, p.G1815R) reported previously in patients with DEB. Our findings contribute to the COL7A1 mutation database and further reveal the genetic and phenotypic heterogeneity of DEB-Pr.


Subject(s)
Collagen Type VII/genetics , Epidermolysis Bullosa Dystrophica/genetics , Epidermolysis Bullosa Dystrophica/pathology , Mutation , Adolescent , Adult , DNA Mutational Analysis , Epidermolysis Bullosa Dystrophica/diagnosis , Exons , Female , Heterozygote , Humans , Male , Pedigree , Phenotype , Skin/pathology , Young Adult
5.
Genet Mol Res ; 12(3): 2858-62, 2013 Aug 12.
Article in English | MEDLINE | ID: mdl-24065641

ABSTRACT

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant pigmentary genodermatosis, characterized by a mixture of hyperpigmented and hypopigmented macules that are mainly present on the dorsal portions of the extremities. The DSH locus was mapped to chromosome 1q11-q12 and, subsequently, pathogenic mutations in the double-stranded RNA-specific adenosine deaminase (ADAR1) gene were identified. We performed a mutational analysis of the ADAR1 gene in a Chinese family that included three individuals affected with typical DSH phenotypes. Mutations within the entire coding region and the exon-intron boundaries of ADAR1 were detected and confirmed by polymerase chain reaction and direct sequencing, respectively. An insertion mutation within exon 12, c.3035_3036insC (p.P1012fsX1017), was identified in all family members affected by DSH, but not in the healthy members or 100 unrelated controls. This finding improves our understanding of the role of ADAR1 in DSH.


Subject(s)
Adenosine Deaminase/genetics , INDEL Mutation/genetics , Pigmentation Disorders/congenital , China , Exons , Female , Genetic Predisposition to Disease , Humans , Introns , Male , Pedigree , Phenotype , Pigmentation Disorders/etiology , Pigmentation Disorders/genetics , RNA-Binding Proteins
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