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Atopic dermatitis (AD) exhibits difference in immune polarization between Caucasians and Asian races due to which an evaluation of the efficacy and safety of Pimecrolimus (PIM) in Asian population is called for. The current study addresses the need via a sub-group analysis of the PETITE study (NCT00120523) to evaluate the safety and efficacy of PIM in Chinese infants. Patients with AD (≥3 months–<12 months of age) were randomized in a 1:1 ratio to either PIM 1% cream or topical corticosteroids (TCS). The primary endpoint was safety. The secondary endpoint was efficacy. 120 patients were randomized to either PIM 1% or TCS (n = 61 for PIM, n = 59 for TCS). The most often reported adverse events were reported by similar proportions of patients treated with PIM or TCS. There was a progressive increase in overall IGA treatment success in infants treated with PIM (82.9%, p <.05, 95% CI: 70.4, 95.3) after 26 weeks which was comparable to the TCS group (88.5%, p <.05, 95% CI: 79.8, 97.1). PIM showed an early and sustained efficacy in the Chinese sub-population with a substantial corticosteroid-sparing effect in patients with AD. [ABSTRACT FROM AUTHOR]

Glioma is the most common primary intracranial tumor with high mortality and poor prognosis. The purpose of this study was to investigate how single-nucleotide polymorphisms (SNPs) of the NID2 gene affect glioma risk and prognosis. Four candidate SNPs of NID2 in 529 glioma patients and 478 healthy controls were successfully genotyped by Agena MassARRAY mass spectrometer. Logistic regression was utilized to assess the associations between NID2 SNPs and glioma risk under different genetic models. Furthermore, the relationship between risk-related SNPs in NID2 and the prognosis of glioma patients was explored through Kaplan-Meier (KM) survival curve and Cox proportional hazard regression analysis. The results showed that rs11846847 (OR 1.24, p = 0.017) and rs1874569 (OR 1.22, p = 0.026) were significantly associated with an increased risk of glioma, and rs11846847 also had a risk-increasing effect on glioma in participants ≤ 40 years old. The interaction model of rs11846847 and rs1874569 could be more suitable for forecasting glioma risk. We also discovered a significant association between rs1874569 and poor prognosis in glioma patients (HR 1.32, p = 0.039) and especially CC genotype was relevant to shorter overall survival (OS) and progression-free survival (PFS) in patients with high-grade glioma. Additionally, the study demonstrated that gross total resection or chemotherapy improve glioma prognosis in the Chinese Han population. This study is the first to provide evidence for the association of NID2 SNPs with glioma risk and prognosis, suggesting that NID2 variants might be potential factors for glioma., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Pharmacogenomics has been widely used to study the very important pharmacogenetic (VIP) variants among populations, but information on pharmacogenomics in the Lahu population is limited. The purpose of this study was to determine the differences in the distribution of VIP variants between the Lahu and the other 26 populations., Methods: We genotyped 55 VIP variants of 27 genes in the Lahu population from the PharmGKB database. χ 2 test was used to compare the genotype and allele frequencies between the Lahu and the other 26 populations from the 1000 Genomes Project., Results: The genotype and allele frequencies of single nucleotide polymorphisms (SNPs) on rs20417 (PTGS2), rs776746 (CYP3A5), rs2115819 (ALOX5), and rs3093105 (CYP4F2) were considerably different in the Lahu population compared with those in the other 26 populations. Besides, based on the PharmGKB database, we identified several VIP variants that may alter the drug metabolism of aspirin (PTGS2), tacrolimus (CYP3A5), montelukast (ALOX5), and vitamin E (CYP4F2)., Conclusion: The results show that there are significant differences in the genotype frequency distribution between the Lahu and the other 26 populations. Our study supplements the pharmacogenomics information of the Lahu population and provides a theoretical basis for individualized medicine in Lahu., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Aim: Our study aimed to screen the genotype frequencies of very important pharmacogenomic (VIP) mutations and identify their differences between Bai and other populations. Materials & methods: We selected 66 VIP variants from PharmGKB (www.pharmgkb.org/) for genotyping. χ2 test was used to identify differences in loci between these populations and FST values of Bai and the other 26 populations were analyzed. Results: Our study showed that the frequencies of SNPs of CYP3A5 , ACE , PTGS2  and NAT2 differed significantly from those of the other 26 populations. At the same time, we found that some VIP variants may affect the metabolism of drugs and the genetic relationship between the Bai population and East Asian populations was found to be the closest. Conclusion: By comparing the genotype frequencies of different populations, the loci with significant differences were identified and discussed, providing a theoretical basis for individualized drug use in the Bai ethnic population.

Previous studies have shown that the frequency of very important pharmacogenomic (VIP) genes varies in different populations which leads to the diversities in drug efficacy, safety, and the risk associated with adverse drug reactions (ADRs). The purpose of this study was to identify the distribution differences of VIP variants between the Li population and the other 13 populations. Based on the Pharmacogenomics Knowledgebase database (PhamGKB), we successfully genotyped 52 VIP variants within 27 genes in 200 unrelated Li population. χ 2 test was used to evaluate the significant differences of genotype and allele frequencies between the Li and the other 13 populations from 1000 Genomes Project. Our study showed that the genotype frequencies of single nucleotide polymorphisms (SNPs) on KCNH2, ACE, CYP4F2, and CYP2E1 were considerably different between Li and the other 13 populations, especially in rs1805123 (KCNH2), rs4291 (ACE), rs3093105 (CYP4F2), and rs6413432 (CYP2E1) loci. Meanwhile, we found several VIP variants that might alter the drug metabolism of cisplatin-cyclophosphamide (CYP2E1), vitamin E (CYP4F2), asthma amlodipine, chlorthalidone, and lisinopril (ACE) through PharmGKB. We also identified other variants which were associated with adverse effects in isoniazid and rifampicin (CYP2E1; hepatotoxicity). The four loci rs1805123 (KCNH2), rs4291 (ACE), rs3093105 (CYP4F2), and rs6413432 (CYP2E1) provided a reliable basis for the prediction of the efficacy of certain drugs. The study complemented the existed pharmacogenomics information, which could provide theoretical basis for predicting the efficacy of certain drugs in the Li population., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

The expression of IL-2RA and IL-2RB was correlated with breast cancer (BC) progression. However, there is no literature investigating the association of IL-2RA and IL-2RB polymorphisms with BC predisposition among Chinese Han Women. Seven SNPs in IL-2RA and IL-2RB were genotyped by Agena MassARRAY platform among 553 BC patients and 550 healthy controls. Odds ratios (OR) and 95% confidence interval (CI) adjusted for age were calculated for the effect of IL-2RA and IL-2RB variants on BC susceptibility. IL-2RA rs12722498 was a protective factor for BC occurrence (OR = 0.70, p = 0.019), especially in subjects with age ≤ 52 years (OR = 0.55, p = 0.004). IL-2RA rs12569923 (OR = 9.07, p = 0.033), IL-2RB rs2281089 (OR = 0.67, p = 0.043) and rs9607418 (OR = 0.59, p = 0.012) were related to the incidence of estrogen receptor positive (ER +) BC. IL-2RB rs3218264 (OR = 1.38, p = 0.010) and rs9607418 (OR = 0.56, p = 0.009) were associated with the risk of developing progesterone receptor positive (PR +) BC. Rs2281089 (OR = 1.54, p = 0.012) and rs1573673 (OR = 0.72, p = 0.035) were correlated to Ki-67 level. Moreover, IL-2RB rs2281089 (OR = 0.72, p = 0.022) showed a reduced risk of BC metastasis, and IL-2RA rs12722498 (OR = 0.54, p = 0.030) had a lower frequency in BC patients with tumor size > 2 cm. Our study identified the potential effect of genetic variations in IL-2RA and IL-2RB on BC susceptibility and/or BC clinicopathologic indicators among Chinese Han Women.

Background: Actinic keratosis (AK) is prevalent and has been widely studied in fair-skinned populations. However, this is not the case in eastern countries. AK in Asians has not been so thoroughly investigated., Objectives: To analyse the clinical and pathological features of a relatively large number of cases of AK diagnosed in older Chinese patients., Methods: Case histories of 328 patients with pathologically diagnosed AK were analysed retrospectively. Their demographic, clinical, pathological and treatment data were collected for analysis of associated factors., Results: Lesions were usually distributed on the face, especially the cheeks and temples. The most frequent pathological type was hypertrophic. Only 34% of the cases had been diagnosed correctly as AK before biopsy; many were mistaken for seborrhoeic keratosis., Conclusions: Most patients were elderly females and there was a higher incidence of lesions on the face, and a lower incidence on the extremities and trunk; this finding contrasts with previous investigations in fair-skinned people.

Background: The prevalence of contact allergy varies in different regions and populations., Objective: To describe the frequency of sensitization in patients with dermatitis or eczema referred to Peking University First Hospital and analyze the trends in the prevalence of common allergens from January 1, 1990, to December 31, 2009., Methods: A total of 1,858 patients were patch tested with the Chinese baseline series of contact allergens. Data were collected from retrospective charts and analyzed., Results: Positive reactions to one or more allergens were shown in 1,374 patients (74.0%). The most common sensitizers were nickel sulfate (25.7%), fragrance mix I (25.6%), thiuram mix (25.5%), ammoniated mercury (20.5%), and p-phenylenediamine (19.1%). A statistically significant increase of sensitization over the 20-year period was seen for nickel sulfate, fragrance mix, ammoniated mercury, colophony, ethylenediamine, and potassium dichromate. Mercapto mix showed a trend of a statistically significant decrease in sensitizations from 1990 to 2009., Conclusions: The patterns of contact allergy in patients from Peking University Hospital are different from those of patients in other regions of China, in European countries, and in the United States. Nickel and fragrance mix were the most common allergens, and the sensitization rates of these two allergens had been increasing remarkably during the 20 years from 1990 to 2009.

20 patients with systemic contact dermatitis due to nickel are described. Of these patients, 15 were female and 5 were male. Their mean age was 24.8 years (16-51 years). All had experienced contact dermatitis in the umbilical area due to continual contact with metal belt-buckles or buttons. Then, with long- or short-term aggravation of such periumbilical dermatitis, commonly in summer, lesions spread to other sites such as the side of the neck, the flexures of the extremities, etc. All patients showed a positive patch test to nickel sulphate (2.5% in petrolatum) and the dimethylglyoxime test demonstrated the presence of free nickel on metal buttons or belt-buckles. Punch biopsies performed in 7 patients showed subacute dermatitis. After avoidance of continual exposure to objects containing nickel and foods rich in nickel, as well as treatment with oral antihistamines and topical corticosteroids, all patients improved or cleared. It has been reported that nickel can cause systemic contact dermatitis by some internal systemic route, such as oral intake, transfusion, inhalation, implantation of metal medical devices, etc. In our patients, we found that continual local skin contact could also elicit systemic contact dermatitis.