Analysis of gene variants in familial and non-familial primary open angle glaucoma Pakistani patients.

Aim: To find out the association of secreted protein acidic and rich in cysteine (SPARC)-related modular calcium binding 2 () gene variants rs2255680 and rs13208776 with genotypic and phenotypic characteristics in both familial and non-familial primary open angle glaucoma (POAG) patients.

Methods: A total of 212 POAG patients, comprising 124 familial and 88 non-familial, were enrolled. For genotyping the variant rs2255680, amplification refractory mutation system (ARMS)-polymerase chain reaction (PCR) method and PCR-restriction fragment length polymorphism (PCR-RFLP) were utilized for analyzing rs13208776 variant.

Vascular endothelial growth factor/platelet ratio as a potential biomarker for preeclampsia: A study of angiogenic markers in Pakistani patients.

Objectives: To determine the levels of angiogenic biomarkers: vascular endothelial growth factor (VEGF), soluble vascular endothelial growth factor receptor 1 (sVEGFR1 or sFlt-1), platelet count, and the VEGF/platelet ratio in preeclampsia.

Methods: Forty-four cases of preeclampsia and 44 controls were recruited.

Results: The serum VEGF, sVEGFR1, and VEGF/platelet ratio were significantly higher and platelet counts lower in preeclampsia in comparison to controls (VEGF: median = 178 vs.

Association of OAS1 and MxA variants with COVID-19 in Pakistani patients.

Introduction: Coronaviruses, a family of enveloped RNA viruses, have been implicated in various clinical disorders including coronavirus disease 2019 (COVID-19). Host genetic factors, including the OAS1 and MxA gene variants may have a role in determining susceptibility to viral infections. Understanding the genetic factors involved in unraveling COVID-19`s diverse clinical outcomes is critical for disease management.

Serum and salivary Cu/Zn ratio as a diagnostic biomarker for oral submucosal fibrosis: an analysis of trace metals and LOX gene variants.

This study aimed to analyze the serum and salivary levels of copper (Cu), zinc (Zn), iron (Fe), chromium (Cr), manganese (Mn) and the Cu/Zn ratio and investigate the association between LOX gene variants (rs18800449 and rs2288393) and oral submucosal fibrosis (OSMF). A total of 250 subjects were included in the study: OSMF patients (n = 50), areca nut chewers without OSMF (n = 100) and controls (n = 100). Trace metals were measured using an atomic absorption spectrophotometer, while LOX gene variants were genotyped using the tetra primer amplification refractory mutation system (tetra ARMS) polymerase chain reaction (PCR) method.

Impact of gene variations on COVID-19 pathogenicity in Pakistani patients.

Background: COVID-19, caused by the SARS-CoV-2 virus, swiftly disseminated and was declared a pandemic. Variations in the gene can impact the virus's ability to bind to ACE2 receptor, potentially influencing an individual's susceptibility and its association with COVID-19 severity across various populations.

Methods: In total, 200 individuals were sequenced for the gene and potential impact of the found variants on the ACE2 protein was assessed using in-silico tools.

Association of Gene Variants with Nonsyndromic Cleft Lip and/or Palate in the Pakistani Population.

Objectives: This study investigated the association of gene variants rs3821949 and rs12532 with nonsyndromic cleft lip and/or palate (NSCL/P) in the Pakistani population.

Design: Comparative cross-sectional study. Multicenter of CL/P malformation.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. A total of 12 affected families were enrolled. Clinical investigations were performed to access the BBS-associated phenotypes.

Association of single nucleotide polymorphism variations in and genes with congenital cataract in Pakistani population.

Background: The purpose of present study was to analyze the association of single nucleotide polymorphism (SNPs) variant in and genes with Congenital Cataract.

Method: Total 196 blood samples of children were collected, out of which 102 samples were congenital cataract (case group) and 94 samples were normal individuals (control group). Genomic DNA was extracted by using optimized inorganic method.

P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.

Objective: To explore the genetic cause of autosomal recessive retinitis pigmentosa in consanguineous families.

Methods: The multi-centre study was conducted from July 2015 to June 2018 at Liaquat University of Medical and Health Sciences, Jamshoro, the University of Sindh, Jamshoro, and Islamia University, Bahawalpur, Pakistan, and comprised families affected with non-syndromic autosomal recessive retinitis pigmentosa. Ophthalmological investigations were done to assess the fundus of the patients and the status of the disease.

MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study.

Background: To study the role of single nucleotide variants (SNVs) of genes related to preeclampsia in Pakistani pregnant women.

Methods: After ethical approval and getting informed consent; 250 pregnant women were enrolled and equally divided into two groups (125 preeclamptic cases and 125 normotensive pregnant women). Demographic details and medical history were recorded, and 10 ml blood sample was obtained for DNA extraction.

Two novel variants in gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.

Aim: To find the mutations associated with primary congenital glaucoma (PCG) in Pakistani consanguineous pedigrees.

Methods: After getting informed consent, 11 consanguineous pedigrees belonging to different ethnic groups were enrolled. Detailed medical history was recorded and pedigrees were drawn.