Autism spectrum disorder (ASD) is a group of complex multifactorial neurodevelopmental and neuropsychiatric disorders in children characterized by impairment of communication and social interaction. Several genes with associated single nucleotide polymorphisms (SNPs) have been identified for ASD in different genetic association studies, meta-analyses, and genome-wide association studies (GWAS). However, associations between different SNPs and ASD vary from population to population. Four SNPs in genes CNTNAP2, EIF4E, ATP2B2, CACNA1C, and SNP rs4307059 (which is found between CDH9 and CDH10 genes) have been identified and reported as candidate risk factors for ASD. The aim of the present study was, for the first time, to assess the association of SNPs in these genes with ASD in the Pakistani population. PCR-based genotyping was performed using allele-specific primers in 93 ASD and 93 control Pakistani individuals. All genetic associations, genotype frequencies, and allele frequencies were computed as odds’ ratios (ORs) using logistic regression with a threshold of p ≤ 0.01 to determine statistical significance. We found that the homozygous genotypes of mutant T alleles of CNTNAP2 and ATP2B2 were significantly associated with Pakistani ASD patients in unadjusted ORs (p < 0.01), but their significance score was lost in the adjusted model. Other SNPs such as rs4307059, rs17850950 of EIF4E, and rs1006737 of CACNA1C were not statistically significant. Based on this, we conclude that SNPs are not associated with, or are not the main cause of, autism in the Pakistani population, indicating the involvement of additional players, which need to be investigated in future studies in a large population size. One of the limitations of present study is its small sample size. However, this study, being the first on Pakistani ASD patients, may lay the foundations for future studies in larger samples.

In the current study, bioactive compounds of Vitis vinifera (Perlette) were extracted using an ultrasound-assisted extraction technique. The central composite design of response surface methodology (RSM) was used to determine the effect of time, temperature, and concentration of acetic acid on response variables that include extract yield, total phenolic content (TPC), total flavonoid content (TFC), and antioxidant activity of Vitis vinifera extracts. The results of the central composite design of RSM revealed that the quadratic polynomial model is best fitted to experimental results, with all the responses having a regression coefficient greater than 0.9. Optimized extraction levels include 26.5 min, an extraction temperature of 59 °C, and an acetic acid concentration of 62.9% with good extraction yield results of 34.95 g/100 g dry weight (DW) of grapes, TPC 34.38 mg gallic acid equivalent per gram (GAE/g) DW, flavonoid content 10.21 mg quercetin equivalents per gram (QEQ/g) DW, and antioxidant activity of 9.11 mg/100 mL ascorbic acid equivalent. The present study showed that acetic acid can be effectively used for the ultrasound-assisted extraction of polyphenols, flavonoids, and antioxidants of Vitis vinifera. These optimized conditions can be used for the extraction of bioactive compounds that can be for the development of nutraceutical products.

Background Genetic predisposition to psoriasis, an inflammatory skin disease affecting 0·2–4% of the world population, is well established. Thus far, 41 psoriasis susceptibility loci reach genome‐wide significance (P ≤ 5 × 10⁻⁸). Identification of genetic susceptibility loci in diverse populations will help understand the underlying biology of psoriasis susceptibility. Objectives The primary objective of this study was to examine psoriasis susceptibility associations previously reported in Chinese and caucasian populations in a Pakistani cohort. Methods Blood samples and phenotype data were collected from psoriasis cases and controls in Islamabad, Pakistan. DNA was isolated and genotypes of selected susceptibility markers were determined. The data were analysed using χ² tests or logistic regression for psoriasis association. Results HLA‐Cw6 showed the strongest association [odds ratio (OR) 2·43, P = 2·3 × 10⁻¹²]. HLA‐Cw1 showed marginally significant association (OR 1·66, P = 0·049), suggesting that the HLA‐Cw1‐B46 risk haplotype may be present in the Pakistani population. Three other loci (IL4/IL13, NOS2, TRAF3IP2) showed nominally significant association (P < 0·05). Conclusions HLA‐Cw6 is strongly associated with psoriasis susceptibility in the Pakistani population, as has been found in every other population studied. In addition, HLA‐Cw1 showed marginal association, reflecting the relative geographical proximity and thus likely genetic relatedness to other populations in which the HLA‐Cw1‐B46 haplotype is known to be associated. A larger cohort and a denser marker set will be required for further analysis of psoriasis associations in the South Asian population.

Berberis lycium Royle has been traditionally used to cure rheumatism, eye and ear diseases, malarial fever, diabetes, stomach disorders, and skin diseases. There is a least amount of data available on cytotoxic capacity of Berberis lycium from Pakistani origin, so on this basis, the present study was aimed to screen Berberis lycium root bark extracts for cytotoxicity against cancer cell lines and isolation of chemical constituents from the most cytotoxic extract. Initial screening of extracts was performed on HepG2 cells at 100 μg/mL for 72 hours of treatment by using an MTT assay. Active fractions were subjected to a series of column chromatographies for the isolation of cytotoxic compounds. Molecular structures were elucidated by using combined data from ¹H‐NMR, ¹³C‐NMR, and ESI‐MS graphs. Assessment of reduction in cell proliferation by isolated compounds was performed on three human cancer cell lines (SK‐Hep‐1, HepG2, and NCI‐H1299). Both n‐hexane and chloroform fractions were found active with percent cell viabilities of 8.41 ± 2.23 and 22.31 ± 9.11 in HepG2 cells compared with lupeol 35.43 ± 3.35 percent viability. A protoberberine alkaloid identified as oxyberberine was isolated from chloroform fraction while β‐sitosterol was isolated from n‐hexane fraction. Oxyberberine inhibited SK‐Hep‐1 cell proliferation under a dose‐dependent manner with an IC₅₀ value of 34.26 ± 3.34 μM while HepG2 cells showed 50% inhibition at 62.96 ± 4.12 μM. β‐Sitosterol showed reduction in cell viability in SK‐Hep‐1 cells and HepG2 cells with IC₅₀ values of 123.12 ± 3.51 μM and 140 ± 4.21 μM. This is the first report on the isolation of oxyberberine and β‐sitosterol from Berberis lycium root bark and their cytotoxic evaluation against SK‐Hep‐1 and NCI‐H1299 cells. The cytotoxic potential of Berberis lycium Royle extracts and isolated compounds is suggesting that it is a promising candidate for anticancer drug discovery.