Glutathione s-transferase M1 and T1 gene deletions and susceptibility to acute lymphoblastic leukemia [ALL] in adults

Objective: Biotransformation of xenobiotics is critical for their metabolism and removal from the body which is carried out by xenobiotic metabolizing enzymes. Individuals carrying variants of genes that encode these enzymes have an altered ability to metabolize xenobiotics which may lead to an increased risk of acute lymphoblastic leukemia. The current study aimed to investigate the impact of GSTM1 and GSTT1 gene deletions in causing predisposition to adult ALL

Methods: The current case-control study involved 62 adult ALL patients and 62 age and gender matched healthy controls. Whole blood samples processed with standard phenol chloroform protocol for DNA isolation were genotyped using multiplex PCR approach for simultaneous identification of GSTM1 and GSTT1 deletions. The genotype frequency obtained for patients was compared to controls using odds ratio and chi-square

Results: The null genotype frequency of GSTM1 and GSTT1 in a group of adult ALL patients from Pakistan were 47% and 11% respectively. Deletion of GSTM1 and GSTT1 did not show statistically significant association with adult ALL [p=0.86 and p=0.35 respectively]. The combined GSTM1/GSTT1 deletion was observed in 2% patients and was not significantly associated with ALL in adults [p=0.85]

Conclusions: The results reveal that homozygous null polymorphism of GSTM1 and GSTT1 genes does not influence ALL susceptibility among adult patients. Cancer susceptibility associated with GST polymorphism varies with ethnic and geographic differences. Therefore, further investigation on different populations is needed to understand the role of these genetic variations in modifying adult ALL risk

Association and implications in triple negative and triple positive breast cancer: relationship with sociodemographic and reproductive factors in pakistan

Background and Objectives: Triple negative and triple positive breast cancer have adverse effects than other types of breast cancer. However, triple negative has poor prognosis with short survival as compared with triple positive breast cancer. Good prognosis is one of the key factors for successful treatment trial. This study aimed to find out the association of sociodemographic and reproductive features like parity, menopause, number of child bearing as risk factors in the development and prognosis of triple negative and triple positive breast cancer

Methods: This study is a part of an ongoing project which is being conducted in Karachi from 2013 to 2020. Informed consent from triple negative breast cancer [n=134] and triple positive breast cancer [n=87] patients were taken prior to their recruitment into the study. Demographic, anthropometric, reproductive and disease history of patients were recorded. Means, frequency distribution, data classification and association analyses were done by SPSS version 17.0

Results: Statistical analyses revealed that delayed first child bearing age and lower number of children are associated with the development of triple negative breast cancer. However, no significant effect of these parameters has been observed on the outcomes of triple positive breast cancer

Conclusions: Reproductive factors have more pathological implications than sociodemographic factors in both triple positive and triple negative breast cancer development. These findings might prove to be beneficial for effective and better breast cancer management

Serum Interleukin-15 and its relationship with adiposity Indices before and after short-term endurance exercise

Objective: The myokine interleukin-15 [IL-15] is capable of modifying the metabolism of both skeletal and adipose tissue. This study compares the change in serum levels of IL-15 in obese and non-obese after a single session of submaximal exercise

Methods: A cross-sectional study was carried out at Jinnah Medical and Dental College, Karachi, during Aug-Dec 2015, comprising of 133 medical students [aged 17-24 years]. Cardiorespiratory fitness was evaluated by Queen's College Step Test. Blood was obtained both before and just after exercise and serum levels of IL-15 determined by enzyme-linked immunosorbent assay

Results: Mean serum level of IL-15 was 3.64+/-1.59 pg/mL. Higher levels of IL-15 were seen in lean subjects compared to overweight/obese, both before and after three minutes of exercise [all P[trend]<.001]. The percent increase in IL-15 upon exercise was 12.7 percent higher in lean. Significant negative association was seen between interleukin-15 and adiposity, especially visceral fat [r= -.288, p=.001]

Conclusion: Interleukin-15 correlates negatively with adiposity indices, especially visceral fat. With the proven benefit of IL-15 in terms of adipose tissue stores and skeletal muscle mitochondrial biogenesis, endurance exercises, even of short duration, may possess therapeutic potential towards producing a healthier body

Cardiorespiratory fitness and its association with adiposity indices in young adults

Objective: This study investigated the relationship between cardiorespiratory fitness [CRF] and adiposity in young adults

Methods: Data was collected from 133 students of a medical college of Pakistan. The study was conducted on young adults, aged 17-24 years, recruited from Jinnah Medical and Dental College, Karachi, between Aug-Dec, 2015. Queen's College Step Test was conducted to measure CRF and maximal oxygen uptake [VO[2max]] evaluated. Anthropometric measurements [body mass index, body fat, visceral fat, waist circumference] were taken to assess adiposity. Associations of VO[2max] and adiposity were analyzed

Results: The prevalence of overweight/obesity was 44% overall. The VO[2max] [ml/kg/min] of males and females was 55.41 +/- 9.45 and 39.91 +/- 3.14, respectively, the gender difference being highly significant [p<0.001]. Quartiles of VO[2max] showed strong inverse relationship between adiposity and VO[2max], obese individuals having low VO[2max] [1st quartile] and normal weight individuals having high VO[2max] [4th quartile]. VO[2max] correlated greatest with body fat in males [r = -0.600; p<0.001], and waist circumference in females [r = -0.319; p=0.004]

Conclusion: The results indicate low CRF in young females and a strong inverse relationship between fitness levels and adiposity in young adults of both genders. Improving these parameters in our young population may prevent development of chronic non-communicable disease in later life

study on Catalase Gene Promoter Polymorphism-21 A/T [rs7943316] in Healthy Pakistani population

Background and Objective: Catalase [CAT] is an important endogenous antioxidant enzyme that detoxifies H[2]O[2] into water and oxygen, consequently limiting the deleterious effects of reactive oxygen species. It has suggested that CAT -21A/T [rs7943316] OMIM: 115500 gene promoter polymorphism is predominantly associated with different human disorders such as hypertension, cancers, diabetes, nephropathy, and other diseases accompanied by oxidative stress. This study was designed to investigate the prevalence of mutant T allele frequency in healthy individuals

Methods: The study group consisted of 110 healthy individuals were enrolled from Baqai Institute of Diabetology and Endocrinology [BIDE], Karachi, Pakistan, during the period of April 2010 to May 2013. DNA was isolated from leukocytes. Genotyping of CAT -21A/T [rs7943316] gene promoter polymorphism was carried out using thermal cycler followed by RFLP. Blast N analysis was performed for the confirmation of gene sequences

Results: In CAT -21A/T [rs7943316] gene promoter polymorphism, wild type genotype [AA] was observed in 18.26% and alterered genotype [AT/TT] found in 81.74% cases

Conclusions: Data demonstrates that frequency and distribution of mutant T allele was more prevalent as compared to wild type A allele in the study group

Association of single Nucleotide Missence Polymorphism Val109Asp of Omentin-1 gene and coronary artery disease in Pakistani population: Multicenter study

Background and Objective: Coronary artery disease [CAD] is a most important cause of morbidity and mortality worldwide as well as in Pakistan. Recent studies have shown that the combination of obesity, insulin resistance and fluctuation in circulating adipocytokines levels is associated with the pathogenesis of coronary artery disease. Omentin-1 is recently found adipocytokine that is highly expressed in visceral adipose tissue. It has anti- inflammatory properties and is negatively correlated with ischemic heart disease. Therefore, this study was designed to investigate the relationship between omentin-1 Val109Asp polymorphism and CAD in Pakistani population

Methods: A total of 350 subjects were included in the study. Two hundred fifty were diagnosed witd coronary artery disease while 100 served as healthy controls. PCR-RFLP was performed at Dr. AQ. Khan Institute of Biotechnology [KIBGE] to analyze Val109Asp polymorphism. In this, case control study SPSS software version 16 [Chicago, IL, USA] was used for data analysis. Continuous variables and categorical variables were presented as mean+/-SD or in percentage. Independent sample test and chi-square test was performed to compare the differences in means between cases and controls. Genotype distribution was analyzed by chi-square test and results were presented as percentage and frequency. MultivariWe regression analysis indicated that Val109Asp SNP might be an independent risk factor for CAD susceptibility after adjustment for some well- known CAD risk factors including age, gender, body mass index, smoking, hypertension, diabetes mellitus and lipid abnormalities. There was estimation of odd ratios [OR] and 951 confidence intervals [CIs] to determine the correlation between genotypes and the risk of CAD. [p> 0.05], Genotype frequencies were compared by Chi-square test

Results: There was prevalence of Omentin-1 Val109Asp polymorphism in both case and control groups, However, Val/Asp [heterozygous mutant] genotype was detected more frequently in patients with CAD, OR[95%]=1.921; Cl=1.173-3.1469 in comparison of Asp/Asp and Val/Val genotypes

Conclusion: Individuals having Val/Asp heterozygous gemotype of omentin-1 gene polymorphism are at more risk of developing CAD in Pakistani population, further studies are required in different populations and ethnicities to confirm our findings

Fresh and aged human lymphocyte metaphase slides are equally usable for GTG banding

The identification of chromosomes for routine cytogenetic analysis is based on quality of metaphases and good banding pattern

Fresh slides of human lymphocytes have been shown to produce good bands for the identification of chromosomes morphology. G-bands by Trypsin using Giemsa [GTG] banding of aged slides is generally considered hard to get desired band pattern of chromosomes persistently. The current study is focused on GTG banding of aged slides. A total of 340 subjects including 290 primary infertile and 50 fertile were selected. The blood samples were drawn aseptically for cytogenetic analysis

Lymphocytes were cultured and GTG banding was done on 1440 glass slides

Giemsa trypsin banding of aged slides were done by adjusting average trypsin time for each month according to the slide age and metaphase concentration

Correlation analyses showed a significant and positive correlation between slide ageing and trypsin pre-treatment time. The results of this study suggest that, the fresh and aged human lymphocyte metaphases are equally usable for GTG banding