Dataset Information

Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.

ABSTRACT: Background:Gap junction protein beta 2 (GJB2) upregulation in psoriasis transcriptome analysis as well as connexin 26 (Cx26, encoded by GJB2) expression upregulation in psoriatic plaques has already been substantiated. GJB2 rs72474224 and rs3751385 have been correlated with psoriasis vulgaris incidence in Chinese populations. Here we study the effect of rs3751385 in patients suffering from psoriasis vulgaris in a Caucasian Greek population at the prefecture of Thrace in Northern Greece. Methods:One hundred and seventy-three (111 males and 62 females) psoriatic patients (108 were of early-onset psoriasis) and 171 matched controls were included in the study. Genomic DNA was extracted from peripheral blood leukocytes and genotyping was carried out by polymerase chain reaction-restriction-fragment length polymorphism (PCR-RFLP). Results:A statistically significant lower frequency of C/T genotype in late-onset male psoriasis vulgaris (P = 0.029) as well as of T allele in female early-onset psoriasis vulgaris (P = 0.049) were ascertained. Conclusions:On condition that all other genetic or environmental factors remain stable, the existence and possible interaction between GJB2 rs3751385 C and T alleles in male psoriatic patients may be considered as protective gene component against late-onset psoriasis appearance, while presence of the T allele in female might block the histogenetic mechanisms of early-onset psoriasis lesions.

SUBMITTER: Stylianaki EA

PROVIDER: S-EPMC6731047 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.

Stylianaki Elli-Anna EA Karpouzis Anthony A Tripsianis Gregory G Veletza Stavroula S

Journal of clinical medicine research 20190901 9

<h4>Background</h4>Gap junction protein beta 2 (GJB2) upregulation in psoriasis transcriptome analysis as well as connexin 26 (Cx26, encoded by GJB2) expression upregulation in psoriatic plaques has already been substantiated. GJB2 rs72474224 and rs3751385 have been correlated with psoriasis vulgaris incidence in Chinese populations. Here we study the effect of rs3751385 in patients suffering from psoriasis vulgaris in a Caucasian Greek population at the prefecture of Thrace in Northern Greece.< ...[more]

PMID: 31523338

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Project description:BackgroundPsoriasis vulgaris is a chronic inflammatory and proliferative skin disease, characterized by the formation of itchy, erythematous skin patches or plaques. Patients with psoriasis are at an increased risk of developing metabolic syndrome, including obesity, hypertension, diabetes, and atherosclerosis. Recently, angiotensin II (Ang II) has been reported to be associated with the development of psoriasis. Ang II not only increases the blood pressure but is also a potent proinflammatory modulator and functions through interaction with angiotensin II type 1 receptor (AT1R). Moreover, it is hypothesized that the AT1R gene expression could be correlated with the severity of psoriasis and/or metabolic syndrome.AimWe examined the association of Ang II type 1 receptor (AT1R) A1166C gene polymorphisms and metabolic syndrome with the severity of psoriasis.Patients and methodsThe present case-control study included 25 patients with psoriasis vulgaris and 25 healthy subjects in Egypt. The psoriasis lesions in the patient group were assessed using the psoriasis area and severity index (PASI) score. The AT1R polymorphism A1166C (rs5186) was studied using restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) amplification of the gene from the whole blood sample in both groups. Serum lipid profile and blood sugar levels were assessed post 12 h and 8 h fasting, respectively, in both groups. The severity of metabolic syndrome was evaluated using the severity score.ResultsThe results of the present study demonstrated that the AT1R A1166C gene polymorphisms increased the risk of developing psoriasis in the Egyptian population. We found that 70% of patients with AC genotype and 100% of patients CC genotype reported a PASI score >20 and were considered to be severe cases with a statistically significant difference as compared with patients with AA genotype (p=0.003). In addition, a high statistically significant difference (p=0.001) existed among AT1R genotypes with respect to the percentage of metabolic syndrome in psoriasis patients. Similarly, a statistically significant difference (p=0.004) among AT1R genotypes with respect to metabolic score was found, with the highest level of score and percentage observed in patients with CC genotype than in patients with AC genotype. The lowest level was present among those with AA genotype.ConclusionPatients with psoriasis expressing the C allele of AT1R1166 are susceptible to developing metabolic syndrome and have higher PASI scores as compared with patients carrying the A allele.

Project description:AIMS:GJB4 encodes a transmembrane connexin protein (Cx30.3) that is a component of gap junctions. This study investigated whether GJB4 plays an important role in human heart disease and function. METHODS AND RESULTS:We examined a patient and her older brother who both presented with complicated severe hypertrophic cardiomyopathy (HCM) and whose parents are healthy married cousins. The gene exome analysis showed 340 single nucleotide polymorphisms (SNPs) that caused amino acid changes for which the patient was homozygous and both parents were heterozygous. After excluding all known common (>10%) SNP gene mutations, the gene for GJB4 was the only identified gene that is possibly associated with cardiac muscle. The resultant E204A substitution exists in the 4th transmembrane domain. GJB4-E204A impaired the binding with gap junction protein A1 (GJA1) compared with GJB4-WT. The expression of GJB4 was induced in rat disease models of left and right ventricle hypertrophy and mouse disease models of adriamycin-induced cardiomyopathy and myocardial infarction, while it was not detected at all in control. An immunohistochemical study was performed for autopsied human hearts and the explanted heart of the patient. GJB4 was expressed and colocalized with GJA1 in intercalated discs in human diseased hearts, which was extensively enhanced in the explanted heart of the patient. The abnormal expression and localization of GJB4 were observed in beating spheres of patient's induced pluripotent stem cell (iPSC)-derived cardiomyocytes (CMs). We generated knockout zebrafish of GJB4 by CRISPR/Cas9 and the endodiastolic volume and the ventricular ejection fraction were significantly lower in GJB4-deficient than in wild-type zebrafish at five days post-fertilization. CONCLUSIONS:These results indicate both that GJB4 is defined as a new connexin in diseased hearts, of which mutation can cause a familial form of HCM, and that GJB4 may be a new target for the treatment of cardiac hypertrophy and dysfunction.

Dataset Information

Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.

Publications

Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.

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