Nusrat Jahan

Genetic Polymorphisms in Pakistani Women With Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is the major cause of anovulatory infertility. Although the genetic basis of PCOS is not well understood, it is a common metabolic and endocrine disorder. This study investigates the possible genomic variants associated with PCOS in Pakistani women from the Punjab region. DNA samples from 96 patients with genetically unrelated PCOS and 96 controls were analyzed by direct sequencing to determine the polymorphisms of different loci on follicle-stimulating hormone receptor (fshr), follicle-stimulating hormone β (fshrβ), luteinizing hormone chorionic gonadotropin (lhcgr), luteinizing hormone β (lhβ), estrogen receptor α (esr1), and estrogen receptor β (esr2) genes. Significant associations were observed within the genotype frequencies, allele frequencies, and multi-single-nucleotide polymorphism (SNP) haplotype analysis of most polymorphisms studied. This study identified new SNPs at positions 605+52 Del/T in lhcgr genes occurring in this particular subpopulation. The strong r 2 value suggests that polymorphisms in the fshr and esr1 genes were in linkage disequilibrium. Our study provides evidence of statistically significant associations between susceptibility to PCOS in Pakistani women and the gene polymorphisms mentioned earlier. This suggests that the susceptible loci for PCOS lie within or very close to the chromosomal regions spanning these genes.

Epidemiology and Management Cost of Myocardial Infarction in North Punjab, Pakistan.

Background: Coronary heart disease (CHD) is an important cause of morbidity and mortality in Pakistan. The temporal trends in the risk factors for myocardial infarction (MI) and the impact of socioeconomic status on these risk factors remain ambiguous. Objectives: The objectives of the present analysis were to investigate the potential association between various risk factors and MI in North Punjab, Pakistan, and to assess the status of the control of the risk factors associated with MI in this population. Patients and Methods: The present study included 515 patients admitted to the coronary care units or equivalent cardiology wards of the participating hospitals between 2011 and 2012 in North Punjab, Pakistan. The analysis was focused on identifying the socioeconomic status, lifestyle, family history of MI, and risk factors (i.e. hypertension, diabetes, smoking, and hyperlipidemia). A structured questionnaire was designed to collect data. The lipid profile was recorded from the investigation chart of every patient. For statistical analysis, the Kruskal Wallis, Mann-Whitney U, Wilcoxon, and chi-square tests were used. Results: MI was common in the males at the age of 41 - 60 years as compared to the females (P = 0.015). Patients with a positive parental history of CHD experienced MI at a younger age (P = 0.0001) at a body mass index (BMI) ≤ 25 kg/m2. Sedentary lifestyle (70%) and smoking (60%) had a male predominance. Hypertension accounted for nearly 37%, hyperlipidemia 26%, and diabetes 19.4% of the rural and urban subjects (P < 0.01). High-density lipoprotein cholesterol decreased (up to 34 mg/dl), while low-density lipoprotein cholesterol and hypertension increased with age. The mean monthly cost of medicines and physicians’ fees per patient was 2381.132 Pakistani Rupees (24.24 USD). Conclusions: Higher BMI, positive family history, smoking, hypertension, hyperlipidemia, and diabetes were the strong predictors of MI in North Punjab, Pakistan. Preventive efforts are needed to start early in life and continue throughout the life course.

Variability in Secondary Structure of 18S Ribosomal RNA as Topological Marker for Identification of Paramecium species

Besides cytological and molecular applications, Paramecium is being used in water quality assessment and for determination of saprobic levels. An unambiguous identification of these unicellular eukaryotes is not only essential, but its ecological diversity must also be explored in the local environment. 18SrRNA genes of all the strains of Paramecium species isolated from waste water were amplified, cloned and sequenced. Phylogenetic comparison of the nucleotide sequences of these strains with 23 closely related Paramecium species from GenBank Database enabled identification of Paramecium multimicronucleatum and Paramecium jenningsi. Some isolates did not show significant close association with other Paramecium species, and because of their unique position in the phylogenetic tree, they were considered new to the field. In the present report, these isolates are being designated as Paramecium caudatum pakistanicus. In this article, secondary structure of 18SrRNA has also been analyzed as an additional and perhaps more reliable topological marker for species discrimination and for determining possible phylogenetic relationship between the ciliate species. On the basis of comparison of secondary structure of 18SrRNA of various isolated Paramacium strains, and among Paramecium caudatum pakistanicus, Tetrahymena thermophila, Drosophila melanogaster, and Homo sapiens, it can be deduced that variable regions are more helpful in differentiating the species at interspecific level rather than at intraspecific level. It was concluded that V3 was the least variable region in all the organisms, V2 and V7 were the longest expansion segments of D. melanogaster and there was continuous mutational bias towards G.C base pairing in H. sapiens. J. Cell. Biochem. 115: 2077–2088, 2014.

Molecular Detection and Characterization of Wolbachia pipientis from Culex quinquefasciatus Collected from Lahore, Pakistan

The gram-negative, pleomorphic endosymbiont Wolbachia is known to infect a large number of insects and other arthropods naturally. This bacterium modifies the host biology, mainly causing reproductive alterations including feminization, death of male, parthenogenesis, and importantly cytoplasmic incompatibility. Wolbachia-induced cytoplasmic incompatibility results in nonviable offspring and vector population suppression. In addition, this bacterium rapidly spreads and propagates within the host population. This study is the first report on Wolbachia detection and characterization from Culex quinquefasciatus collected from Lahore, Pakistan. For this purpose, mosquito adults were collected from different localities of Lahore and identified at the species level. A total of 145 pairs of ovaries were individually subjected to DNA isolation, and polymerase chain reaction amplification of three (wsp, 16S rRNA, and ftsZ) genes were investigated. In all, 128 females were found positive, representing 82.3% infection rate. The phylogenetic analysis indicated that the detected endosymbiont had 100% homology with Wolbachia pipientis wPip strain and supergroup B. The detection of the local strain of Wolbachia (wPip) will be useful in investigating its potential for the control of dengue vector (Aedes aegypti) and reducing dengue transmission in Pakistan.

Genetic polymorphisms associated with endometriosis in Pakistani women

Background Endometriosis is a common disease that causes pain and infertility. The heritable predisposition toward endometriosis motivates an interest to identify the genes and genomic variants involved in the pathogenesis of endometriosis. Both genetic and environmental factors contribute to this disease. Here we investigated in Pakistani women the association of endometriosis and single nucleotide polymorphisms (SNP) in genes previously identified in the development of this disease. Methods DNA samples from 52 genetically unrelated endometriosis subjects with endometriosis and 52 randomly selected controls were analyzed by direct sequencing to determine polymorphisms in four genes. These included estrogen receptor alpha (ESR1) (rs2234693 C/T, rs9340799 G/A SNP), estrogen receptor beta (ESR2) (rs4986938 G/A SNP), progesterone receptor (PGR) (rs1042838 G/T, rs10895068 G/A SNPs) and interleukin 10 (IL10) (rs1800871 C/T, rs1800872 C/A and rs1800896 G/A SNPs). Results The allele A at −592, T at −819 and G at −1080 of IL10 and all of the SNPs studied at ESR2 and PGR show strong, statistically significant associations with the disease. However, the genetic variation at ESR1 was distributed similarly among cases and control groups. Conclusion These findings suggest that the functional promoter polymorphism of the IL10 gene, identified by the “ATG” genotype, may contribute to the risk of endometriosis. Genetic variants of ESR2 and PGR gene may also be a risk factor as well as influence the fertility status of patients with endometriosis.