Correction: Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.

[This corrects the article DOI: 10.1371/journal.pone.

Genetic insights into crossbred dairy cattle of Pakistan: exploring allele frequency, linkage disequilibrium, and effective population size at a genome-wide scale.

Linkage disequilibrium (LD) affects genomic studies accuracy. High-density genotyping platforms identify SNPs across animal genomes, increasing LD evaluation resolution for accurate analysis. This study aimed to evaluate the decay and magnitude of LD in a cohort of 81 crossbred dairy cattle using the GGP_HDv3_C Bead Chip.

Genetic Polymorphism and serum levels of Insulin like Growth Factor-1 (Igf-1) in patients of rheumatoid arthritis.

Objectives: Insulin like growth factor-1(IGF-1), is a modulator of immunity and inflammation, it promotes the anabolic role of growth hormone (GH) on bone and skeletal tissue. Genetic polymorphism in IGF-1 gene is reported to affect the transcriptional efficiency affecting its serum level. In this study we aim: 1) To study the presence of 192bp polymorphism of IGF-1 gene in patients of rheumatoid arthritis (RA), 2) To study the association of 192 bp polymorphism of IGF-1 gene with serum IGF-1 levels and disease severity in patients of RA.

Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan.

Aim: To identify the molecular basis of Congenital Hereditary Endothelial Dystrophy CHED caused by mutations in SLC4A11, in the consanguineous Pakistani families.

Methods: A total of 7 consanguineous families affected with Congenital Hereditary Endothelial Dystrophy were diagnosed and registered with the help of ophthalmologists. Blood samples were collected from affected and unaffected members of the enrolled families.

Delineating Novel and Known Pathogenic Variants in , and Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.

Oculocutaneous albinism (OCA) is associated with a wide range of clinical presentations and has been categorized with syndromic and non-syndromic features. The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this study was to identify pathogenic variants in congenital OCA families from Pakistan.

SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families.

Background: Autosomal recessive corneal hereditary endothelial dystrophy (CHED) is a rare congenital disorder of cornea. Mutations in SLC4A11 gene are associated with CHED phenotype. CHED is also an early feature of Harboyan syndrome.

Clinical profile and screening of exon 6 and 14 of ABCB4 gene in obstetric cholestasis patients at a tertiary care hospital in Rawalpindi, Pakistan.

Objective: Intrahepatic Cholestasis of Pregnancy (ICP) is a rare pregnancy specific disorder. Genetic variants of ABCB4 gene increase ICP risk. This study was conducted to determine frequency of ICP cases presented at a tertiary care hospital in Rawalpindi, Pakistan and to screen for genetic variants of exon 6 and 14 of ABCB4 gene in ICP cases.

Association of Interleukin 10 (IL-10) Gene with Type 2 Diabetes Mellitus by Single Nucleotide Polymorphism of Its Promotor Region G/A 1082.

Interleukin 10 (IL-10) is an anti-inflammatory cytokine with lower circulating levels in patients with type 2 diabetes mellitus (T2DM). Cytokines such as IL-10 downregulate the production of pro-inflammatory cytokines, which impair proper function of insulin. So any mutation in the IL-10 gene results in increased production of proinflammatory cytokines, which in turn affect insulin action and cause T2DM.

Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24.3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene.

Latent transforming growth factor beta binding protein 2 (LTBP2) plays a critical role in the development of connective tissue structure and function. Mutations in gene encoding LTBP2 are known to cause syndromic and a non-syndromic microspherophakia. Here, we present a 'first' report of genetic linkage of microspherophakia (MSP) to LTBP2 locus in a large consanguineous Pakistani family with four affected individuals in three loops.

Autosomal recessive congenital cataracts linked to HSF4 in a consanguineous Pakistani family.

Purpose: To investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family.

Methods: All participating members of family, PKCC074 underwent an ophthalmic examination. Slit-lamp photographs were ascertained for affected individuals that have not been operated for the removal of the cataractous lens.

and polymorphisms and clopidogrel resistance in ischemic heart disease patients.

Polymorphisms in and genes are thought to be involved in clopidogrel high on treatment reactivity in ischemic heart disease (IHD) patients. A total of 240 patients with IHD were screened for loss-of-function alleles (LOF; *2, *3) and Q192R. Patients were classified as responders and nonresponders to clopidogrel based upon platelet aggregation studies.

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG.

Prevalence of stromal corneal dystrophies in Lahore.

To determine the prevalence of Stromal Corneal Dystrophies (SCDs) in patient from Lahore hospitals. The study was performed between November, 2014 to July 2015 at the Layton Rahmatullah Benevolent Trust Hospital, Mughal Hospital, Mayo Hospital and General Hospital, Lahore. For the clinical evaluation of SCD by ophthalmologists examination of cornea was done by biomicroscopy, specular microscopy, topography, keratometry, orbscan and far visual acuity.

Interleukin 6 Receptor (IL6-R) Gene Polymorphisms Underlie Susceptibility to Rheumatoid Arthritis.

Background: Increased production of interleukin 6 (IL-6) is associated with rheumatoid arthritis that acts through its receptor, IL-6R (interleukin 6 receptor). Various single nucleotide polymorphisms in the IL6R gene conferring susceptibility to rheumatoid arthritis have been identified in various populations yet these associations have not been fully established. The present study was pursued with the aim to evaluate a possible association between three single nucleotide polymorphisms (rs2228145, rs4537545, rs4845617) of the IL6R gene and rheumatoid arthritis in Pakistani patients.

Fine mapping of chromosome 9 locus associated with congenital cataract.

Purpose: The purpose of this study was to study the molecular basis of inherited autosomal recessive cataracts in Pakistan population and to identify the molecular defect segregating with the disease phenotype.

Methods: Families having two or more affected individuals were identified through hospital, blood samples were collected and DNA was extracted. We employed the traditional strategy of linkage analysis using M13-labeled primers to map the already known genes for autosomal recessive cataract.

In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma.

Purpose: The purpose of this study was to characterize the five missense mutations in CYP1B1 gene identified in Pakistani families affected with primary congenital glaucoma (PCG) using various bioinformatics and protein modeling tools.

Methods: We previously reported four novel missense mutations in CYP1B1 gene segregating in consanguineous Pakistani families. These mutations were identified by direct sequencing of all coding exons, the exon-intron boundaries and the 5' untranslated region of CYP1B1 using genomic DNA from affected and unaffected family members.

Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

Purpose: To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family.

Methods: All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family.

Determination of Serum Trace Elements (Zn, Cu, and Fe) in Pakistani Patients with Rheumatoid Arthritis.

Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disease, which mainly involves the joints. RA is prevalent worldwide with increasing prevalence in elderly people. The mechanism of RA pathogenesis is still undefined, and it is interplaying between genetic susceptibility and environmental factors.

Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2).

Background: Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) is a recessively inherited eye disorder that is more common in consanguineous populations.

Methods: Two families affected with CHED2 were recruited from the Punjab province of Pakistan to identify the underlying genetic defect. Blood samples from both the families, designated as CH01 and CH02, were collected.

Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p.

Purpose: To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family.

Methods: All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted.

Ectopia lentis in a consanguineous pakistani family and a novel locus on chromosome 8q.

Objective: To investigate the genetic basis and molecular characteristics of the isolated form of ectopia lentis.

Methods: We ascertained a consanguineous Pakistani family with multiple individuals with ectopia lentis. All affected as well as unaffected members with isolated ectopia lentis underwent detailed ophthalmologic and medical examination.

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Purpose: To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families.

Methods: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted.

Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Purpose: To investigate the genetic basis of autosomal recessive congenital cataracts in a consanguineous Pakistani family.

Methods: All affected individuals underwent a detailed ophthalmological and clinical examination. Blood samples were collected and genomic DNAs were extracted.

A new locus for autosomal recessive congenital cataract identified in a Pakistani family.

Purpose: To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family.

Methods: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted.