A genetic coding variant rs72474224 in GJB2 is associated with clinical features of psoriasis vulgaris in a Chinese Han population

Abstract

Our recent targeted sequencing study identified a missense single-nucleotide polymorphism rs72474224 (c.324C>T) in GJB2. To investigate the correlation between rs72474224 (c.324C>T) and subphenotypes of psoriasis, genotype data for rs72474224 (c.324C>T, p.Val37Ile) was analyzed in 9946 cases and 9906 controls. The additive model provided the best fit for rs72474224 (P = 7.34 × 10(-9)). The genotypic and allelic frequency distributions were associated with plaque psoriasis in case-only (Pgenotype = 2.67 × 10(-3), Pallele = 6.22 × 10(-4)) and subphenotype-control (Pgenotype = 1.58 × 10(-11), Pallele = 8.16 × 10(-12)) analyses. No other significant difference was found in case-only analyses. Rs72474224 in GJB2 is preferentially associated with plaque psoriasis in Chinese population and might contribute to the complexity of psoriasis clinical features.

Connexin Communication Compartments and Wound Repair in Epithelial Tissue

“…Genetic factors also play a role, with several loci identified as psoriasis susceptibility risk factors. The most prominent is PSOR1 , a Major Histocompatibility Complex (MHC) Class 1 region on the chromosome 6p21 [ 78 ], and a number of reports suggest that polymorphisms on GJB2 represent suitable markers of susceptibility [ 79 , 80 , 81 , 82 ].…”

Association of the novel susceptible locus rs9266150 with clinical features of psoriasis vulgaris in the Chinese Han population

“…According to the skin lesion types, the patients were divided into two groups, guttate psoriasis and chronic plaque psoriasis. In addition, the family history was defined as positive if the patient had at least one first‐, second‐ or third‐degree relative who was also affected by this disease . This study was approved by the Institute Human Ethics Committee of each hospital, and written informed consent was obtained from all the study subjects.…”

Correlation analysis of the HLA‐DPB1*05:01 and BTNL2 genes within the histocompatibility complex region with a clinical phenotype of psoriasis vulgaris in the Chinese Han population

“…Stratified analysis of the case group was divided into five different clinical phenotypes, including: (i) sex (male and female); (ii) age of onset [early onset and late onset: early‐onset psoriasis (Type I psoriasis) was considered as onset occurring at age ≤ 40 years, whereas later‐onset psoriasis (Type II psoriasis) was defined as onset after 40 years]; (iii) region (Permanent residence: South and North, the geographical dividing line between northern and southern China is the Huai River–Qin Mountains line); (iv) family history of psoriasis (family history was defined as positive if the patient had at least one first‐, second‐or third‐degree relative also affected with the disease); and (v) skin type (plaque type and guttate type). All the controls and cases were matched in term of ethnicity and geographical location to ensure minimal population stratification effects for each replication.…”

“…HLA‐Cw6 was also widely suggested to be a marker allele in linkage disequilibrium with the PSORS1 susceptibility allele . Furthermore, some genotype–phenotype relationships for psoriasis have been identified, such as rs6887695 near interleukin (IL)‐12B being associated with chronic plaque psoriasis in a Chinese Han population, the MICA‐TM A9 allele being associated with psoriatic arthritis in Asians and Europeans and rs72474224 in GJB2 being preferentially associated with plaque psoriasis in a Chinese population …”