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Abstract: BTNL2 gene, a MHC class II gene-linked butyrophilin family member, has been recently associated with the inflammatory autoimmune diseases, such as tuberculosis, sarcoidosis and leprosy. This diseases show phenotypic features of granulomatous disease. Multiple single nucleotide polymorphisms in BTNL2 have been investigated as a candidate gene for tuberculosis in a case–control association study in the South African Coloured population. But, no significant association was detected between any of the polymorphisms investigated and TB, including rs2076530 SNP that was previously found to be associated with sarcoidosis. In this study, we genotyped 6 SNPs using SNaPshot in 286 tuberculosis cases and 608 controls in Chinese. Our genetic study revealed a significant association between the rs3763313, rs9268494, rs9268492 SNPs in the BTNL2 gene and tuberculosis. And haplotypes 1–5, and 8 (C–A–G–T–G–A, C–A–G–T–G–G, C–A–T–G–C–A, C–A–T–G–C–G, and C–G–T–G–C–G, T–A–T–G–C–A) presented a significant association with susceptibility to tuberculosis. We found that BTNL2 gene was linked to tuberculosis in Chinese Han population. [Copyright &y& Elsevier]

Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, hypotonia, hirsutism/hypertrichosis, sparse scalp hair and varying kind of congenital anomalies. CSS can easily be misdiagnosed as other syndromes or disorders with a similar clinical picture because of their genetic and phenotypic heterogeneity. We describde the genotype-phenotype correlation of one patient from a healthy Chinese family with a novel genotype underlying CSS, who was first diagnosed in the ophthalmology department as early-onset high myopia (eoHM). Comprehensive ophthalmic tests as well as other systemic examinations were performed on participants to confirm the phenotype. The genotype was identified using whole exome sequencing, and further verified the results among other family members by Sanger sequencing. Real-time quantitative PCR (RT-qPCR) technology was used to detect the relative mRNA expression levels of candidate genes between proband and normal family members. The pathogenicity of the identified variant was determined by The American College of Medical Genetics and Genomics (ACMG) guidelines. STRING protein-protein interactions (PPIs) network analysis was used to detect the interaction of candidate gene-related proteins with high myopia gene-related proteins. The patient had excessive eoHM, cone-rod dystrophy, coarse face, excessive hair growth on the face, sparse scalp hair, developmental delay, intellectual disability, moderate hearing loss, dental hypoplasia, patent foramen ovale, chronic non-atrophic gastritis, bilateral renal cysts, cisterna magna, and emotional outbursts with aggression. The genetic assessment revealed that the patient carries a de novo heterozygous frameshift insertion variant in the ARID1B c.3981dup (p.Glu1328ArgfsTer5), which are strongly associated with the typical clinical features of CSS patients. The test results of RT-qPCR showed that mRNA expression of the ARID1B gene in the proband was approximately 30% lower than that of the normal control in the family, suggesting that the variant had an impact on the gene function at the level of mRNA expression. The variant was pathogenic as assessed by ACMG guidelines. Analysis of protein interactions in the STRING online database revealed that the ARID1A protein interacts with the high myopia gene-related proteins FGFR3, ASXL1, ERBB3, and SOX4, whereas the ARID1A protein antagonizes the ARID1B protein. Therefore, in this paper, we are the first to report a de novo heterozygous frameshift insertion variant in the ARID1B gene causing CSS with excessive eoHM. Our study extends the genotypic and phenotypic spectrums for ARID1B-CSS and supplies evidence of significant association of eoHM with variant in ARID1B gene. As CSS has high genetic and phenotypic heterogeneity, our findings highlight the importance of molecular genetic testing and an interdisciplinary clinical diagnostic workup to avoid misdiagnosis as some disorders with similar manifestations of CSS., (© 2024. The Author(s).)

Land surface temperature (LST) variations are very complex in mountainous areas owing to highly heterogeneous terrain and varied environment, which complicates the surface urban heat island (SUHI) in mountain cities. Previous studies on the urban heat island (UHI) effect mostly focus on the flat terrain areas; there are few studies on the UHI effect in mountainous areas, especially on the influence of elevation on the SUHI effect. To determine the SUHI in the Qinling-Daba mountains (China), MODIS LST data were first preprocessed and converted to the same elevations (1500 m, 2000 m, 2500 m, 3000 m, and 3500 m) using a digital elevation model and the random forest method. Then, the average LSTs in urban land, rural land, and cultivated land were calculated separately based on the ranges of the invariable urban, rural, and cultivated areas during 2010-2018, and the urban, rural, and cultivated land LST difference were estimated for the same elevations. Results showed that the accuracy of LST estimated using the random forest method is very high (R 2 ≥ 0.9) at elevations of 1500 m, 2000 m, 2500 m, 3000 m and 3500 m. The difference in urban, rural, and cultivated lands' LST has a trend of decrease with increasing elevation, meaning that the SUHI weakens at higher elevations. The average LST of urban areas is 0.52-0.59 °C (0.42-0.57 °C) higher than that of rural and cultivated areas at an elevation of 1500 m (2000 m). The average LST of urban areas is 0.10-1.25 °C lower than that of rural and cultivated areas at elevations of 2500 m, 3000 m, and 3500 m, indicating absence of the SUHI at those elevations.