Association between PDCD1 gene polymorphisms and psoriasis susceptibility in the Chinese population.

BACKGROUND: As an immune regulator expressed on the surface of activated T cells, programmed cell death 1 (PDCD1) plays an important role in psoriasis. However, whether PDCD1 genetic polymorphism is associated with psoriasis has yet to be explored. OBJECTIVE: To study the association between polymorphisms of the immune-related gene PDCD1 and psoriasis susceptibility in the Chinese population, to illustrate the genetic mechanism of psoriasis and provide new research ideas for the diagnosis and treatment of psoriasis (PS). METHODS: Overall, 128 psoriasis patients and 88 healthy controls were included in this study. Using polymerase chain reaction (PCR)-Sanger sequencing analysis, six PDCD1 single nucleotide polymorphisms (SNPs) were sequenced: PD1.1, PD1.3, PD1.4, PD1.5, PD1.6, and PD1.9. RESULTS: Among the six tested SNPs, PD1.6 showed a significant association with psoriasis in genotype and allele frequency distribution. The G allele of PD1.6 increased the risk of psoriasis (P = 0.03). In contrast, the other five SNPs failed to show association with psoriasis. Further analysis within the patient group showed that the frequency of the PD1.6 G allele was relatively high in severe psoriasis, but the difference was nonsignificant. CONCLUSION: PDCD1 gene polymorphism is associated with psoriasis. The population carrying PD1.6 allele G are at a higher risk of developing psoriasis, though the severity of psoriasis does not correlate with PD1.6 polymorphism.

Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.

Hypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of genetic mutations. Currently, only four studies regarding LSS-related HS have been reported. In this study, we try to make a definite diagnosis in two unrelated Chinese families with three pediatric patients clinically suspected of HS. Whole-exome sequencing (WES) was performed for these two families to reveal the pathogenic mutation. WES revealed two different compound heterozygous mutations in LSS in two probands that confirmed the diagnosis, including three novel mutations. In this paper, we describe a new accompanying phenotype of teeth dysplasia in a HS patient. Moreover, we provide a review of all reported LSS mutation-related patients and infer some potential genotype-phenotype correlations for the first time.

PD-L1 reverses depigmentation in Pmel-1 vitiligo mice by increasing the abundance of Tregs in the skin.

Programmed cell death 1 ligand 1 (PD-L1) is a ligand of programmed cell death 1 (PD-1) that functions as an immune checkpoint by down-regulating immune responses. To determine whether PD-L1 is a therapy target in vitiligo treatment, Pmel-1 vitiligo mice were treated with a PD-L1 fusion protein. Treatment with this fusion protein significantly reversed/suppressed depigmentation development in adult Pmel-1 mice. Mechanistically, enrichment of regulatory T cells (Treg) in the skin was detected after PD-L1 fusion protein treatment in Pmel-1 mice. Furthermore, Tregs abundance was also increased in both the spleen and circulation of Pmel-1 mice treated with PD-L1. These data indicate that PD-L1 protein therapy inhibits the immune response and reverses depigmentation development in Pmel-1 vitiligo mice.

Maternal Exposure to Air Pollutants and Risk of Gestational Diabetes Mellitus in Taiwan.

Mounting evidence has shown an increased risk of gestational diabetes mellitus (GDM) in association with elevated exposure to air pollution. However, limited evidence is available concerning the effect of specific air pollutant(s) on GDM incidence. We conducted this case-control study on 6717 mothers with GDM diagnosed in 2006-2013 and 6717 age- and year of delivery-matched controls to further address the risk of GDM in relation to specific air pollutant. Both cases and controls were selected from a cohort of 1-million beneficiaries of Taiwan's National Health Insurance program registered in 2005. Maternal exposures to mean daily air pollutant concentration, derived from 76 fixed air quality monitoring stations within the 12-week period prior to pregnancy and during the 1st and 2nd trimesters, were assessed by the spatial analyst method (i.e., ordinary kriging) with the ArcGIS software. After controlling for potential confounders and other air pollutants, an increase in pre-pregnancy exposure of 1 inter-quartile range (IQR) for PM2.5 and SO2 was found to associate with a significantly elevated odds ratio (OR) of GDM at 1.10 (95% confidence interval (CI) 1.03-1.18 and 1.37 (95% CI 1.30-1.45), respectively. Exposures to PM2.5 and SO2 during the 1st and 2nd trimesters were also associated with significantly increased ORs, which were 1.09 (95% CI 1.02-1.17) and 1.07 (95% CI 1.01-1.14) for PM2.5, and 1.37 (95% CI 1.30-1.45) and 1.38 (95% CI 1.31-1.46) for SO2. It was concluded that higher pre- and post-pregnancy exposures to PM2.5 and SO2 for mothers were associated with a significantly but modestly elevated risk of GDM.