Population Of Karachi Research Articles

KIR and HLA class I diversity in Pakistani and Yadav populations: a high-resolution study of immunogenetic diversity in South Asians

Abstract Killer cell immunoglobulin-like receptors (KIR) modulate the activity of human NK cells by interacting with HLA class I ligands, influencing their response to pathogens, cancer and during pregnancy. Combinatorial diversity of HLA and KIR allotypes impacts NK cell functions in health and disease. South Asians are under-studied for this immunogenetic diversity, despite representing almost one quarter of the world’s population. We analyzed KIR and HLA distribution of a cohort of healthy subjects comprising 81 from Karachi in Pakistan and 71 Yadav from Tamil Nadu in Southern India. To overcome genomic region complexity, we used our high throughput NGS and bioinformatics pipeline to derive high resolution gene content and allele level KIR and HLA data. We also developed a Cas9-targeted long read method to fully sequence specific structurally divergent KIR haplotypes. We identified 110 distinct HLA class I alleles in the Karachi population and 80 in the Yadav. We observed 96% individuals to have unique HLA class I genotypes and three were shown to be homozygous across all three HLA class I genes. While overall HLA diversity is lower in the Yadav compared to the Karachi, both encode approximately two KIR ligands per HLA haplotype. We identified 125 distinct KIR alleles, including 11 characterized for the first time in this study. We identified and sequenced multiple KIR haplotypes having large-scale deletions or duplications of complete genes. Most haplotypes were observed in more than one individual, but every individual studied has a unique KIR genotype. This is the first high-resolution study of KIR and HLA class I in a South Asian population, and this will lay the foundation for further immunogenic studies of subjects from this geographic region.

Levels of Anxiety and Stress during Pandemic of COVID-19 among the General Population of Karachi, Pakistan

Background: The COVID-19 pandemic has affected not only the physical health, but mental health of general population.
 Objective: The objective of the study was to assess the anxiety and levels of stress during COVID-among the population of Karachi.
 Methodology: A cross-sectional study was conducted for the period of 8 months May 2020-December 2020, the required variables were collected on a questionnaire. Data was analyzed and descriptive statistics was applied using SPSS version 21 with 95% CI.
 Results: Out of 450 participants, 45.8% males, 54.2% females. The majority (39.1%) of patients were in group of 51-70 years of age. The levels of anxiety were categories in mild (21.5%), moderate (38.2%) severe (15.2%) and no anxiety (25.1%). The contributing factors in stress and anxiety were the fear (68.3%), panic situation by media (58.5%) and stress due to pandemic (64.2%).
 Conclusion: The pandemic of COVID-19 is a stressful situation which needs a proper management and counselling of community regarding the precautionary measures and guidance to control the psychological parameters.

Evaluation of head and neck cancer knowledge among the at-risk population of Karachi, Pakistan: a cross-sectional survey

PurposeThe purpose of this study was to assess the knowledge of head and neck cancers (HNCs), their risk factors, signs and symptoms among the general public of Karachi, Pakistan.Design/methodology/approachInitially, 503 individuals were approached for data collection, out of which 404 fit the inclusion criteria (response rate = 80.03%). Nonprobability convenience sampling was utilized to select participants who fell under the age group of 15–60 years, barring the fields of Bachelor of Medicine and Bachelors of Surgery (MBBS) and Bachelors of Dentistry (BDS). Knowledge was evaluated by a 9-item questionnaire, the scores of which yielded the following interpretations: No (0), low (1–3), moderate (4–6) and high (7–9) knowledge.FindingsOf the 404 participants who completed the questionnaire, 357 (88.4%) participants claimed to be aware of HNC. The HNC knowledge scores had a statistical relevance with socioeconomic status (p = <0.01) and level of education (p = 0.02). Most participants recognized a “lump or swelling in the throat” (87.1%) as the most common symptom, followed by “bleeding in mouth or throat” (84.7%). Surprisingly, 75.25% of participants thought HNCs were inclusive of brain cancer.Originality/valueOverall, knowledge of HNCs among the general public of Karachi surpasses the knowledge in other regions around the world. Our study demonstrated that people indulge in unhealthy habits despite having sufficient knowledge and this warrants prompt interventions and counseling of the people.

A Study of Awareness and Knowledge about Epidermodysplasia Verruciformis-A Genetic Disorder

Tree man syndrome is a rare inherited skin disorder, including persistent infection caused by human papillomavirus, as a result of which a defect in cell-mediated immunity takes place. This infection results in the growth of scaly macules and papules, mostly on the feet and hands. It is a lifelong disorder that can be treated in surgical and nonsurgical ways. A questionnaire or awareness-based study was conducted among the population of Karachi, Pakistan (both medical and non-medical). It was attended by 506 individuals. To raise the consciousness of this illness. The questions evaluated their knowledge of tree man illness, the possible consequences of the condition and the latest therapies. More than 80% of people were totally unaware of tree man disorder. Only 10% of people were aware or just heard about this disease. The awareness of Tree man syndrome was very low among the people. Steps should be taken to increase awareness about this rare but life-threatening disease.

Perception and Evaluation of Psychological Stress Awareness during Corona Virus Disease among General Population in Karachi, Pakistan

Background: The main object of this study was to analyze the opinion of general public in Karachi city to examine the levels of psychological impact (anxiety, stress and depression) during the 1st episode of the COVID-19 pandemic.

Efficacy Studies of Two Iron Supplements Irovit-1 and Irovit-2

Two preparations of iron supplements have been developed with vitamins, Irovit-1 and Irovit-2 containing 1 mg/mL and 2 mg/mL elemental iron respectively in complex form. Clinical trials of Irovit-1 and Irovit-2 have been conducted randomly on selected anemic males and females from urban population of Karachi, an improvement in hemoglobin levels were estimated for the treatments with Irovit-1 (10 mg Fe/day) and Irovit-2 (20 mg Fe/day). Both preparations have been found to be effective in increasing hemoglobin, Hematocrit and red blood cell count. The mean hemoglobin levels were observed increased 0.73 ± 0.25 g/dL and 1.10 ± 0.30 g/dL, after 5 weeks by oral intake of Irovit-1 and Irovit-2, respectively.

RETROSPECTIVE EVALUATION OF BURDEN OF LUNG CANCER IN DIFFERENT ETHNIC GROUPS AND GENDERS AT KARACHI, PAKISTAN

Lung cancer is a third leading cancer in Pakistan with high mortality rate. To determine incidences in the population of Karachi, Pakistan, a retrospective study in different ethnic group was conducted from January 2011 to December 2015 to determine incidences of lung cancer in last five years registered in oncology wards of major hospitals of Karachi. Registered patients of lung cancer with confirmed diagnosis cytologically and/or histologically was included in the study. Secondary data from retrospective patient’s charts and files have been gathered. Most of the cases were from city of Karachi, Interior Sindh and Balochistan provinces. Minimum sample size of study was 147, however, evaluation was done on 169 patients. In addition to type of cancer, ethnicity, gender and age were also recorded. SPSS 20 software was employed for analysis including mean age, standard deviation, standard error and co-efficient of variation. Number of cases and incidences of lung cancer in different ethnic groups were found to be; Sindhi male 51 (38%), Sindhi female 12 (34%), Urdu speaking male 32(24%), Urdu speaking female 09 (26%), Balochi male 10 (07%), Balochi female 04 (11%), Pukhtoon male 09 (07%), Pukhtoon female 03 (09%), Punjabi male 25 (19%), Punjabi female 05 (14%), Siraikis male 03 (02%) minorities and other males 04 (03%), minorities and other females 02 (06%). Highest incidences are observed in Sindhi and Urdu speaking population of Sindh province, especially in male. Active, passive smoking, air-pollution and occupational exposure could be reason of high number of incidences in major ethnic groups of Karachi, therefore screening parameters are of paramount importance to reduce the burden of disease.

Frequency and Trends of Prostatic Diseases in a Subset of Karachi Population: A Retrospective Study

Background: Prostatic diseases are a leading cause of frequent urinary complaints in elderly males. The most common diseases include prostatitis, benign prostatic hyperplasia, and prostate cancer. This study aimed to determine the frequency of the prostatic diseases, their trend over the years, and the association of age and diagnosis. Methods: A retrospective descriptive study was conducted in Basic Medical Sciences Institute (BMSI) at Jinnah Postgraduate Medical Centre, Karachi. Data was collected from the histopathological files and all the cases diagnosed from 2014 to 2018 were included. Statistical analysis was done using SPSS with 95% confidence interval and p-value of ≤ 0.05 was considered significant. The Chi-square test was applied to find the association with age and year of diagnosis. Results: Total 163 prostate cases were documented from 2014 to 2018, out of which 98 (60.1%) were of benign prostatic hyperplasia, which was most commonly diagnosed in men aged, 61-70. Prostatic adenocarcinomas having Gleason scores 8-10 were frequent and commonly seen in men aged 51-60 years. An increasing trend (p-value=0.053) was observed in the diagnosis of these prostatic diseases within these five years. Conclusion: Benign prostatic hyperplasia is the most frequently (p-value=0.140) diagnosed prostatic disease in men, followed by adenocarcinoma and prostatitis. Advanced stage prostatic adenocarcinoma was diagnosed more frequently 17(10.4%) and at an earlier age. There is an increase in the number (p-value=0.053) of cases of prostatic diseases diagnosed each year. National-level studies and health policies are needed to facilitate early diagnosis and treatment.

Gene Frequency of CYP2D6*4 and *10 Variants in Karachi Population

Background: In the human population, CYP2D6 is highly polymorphic group of genes involved in metabolizing ~25% of all clinically used neuroleptic and antidepressant drugs. The CYP2D6*4 and CYP2D6*10 variants are prevalent in Asian population exhibiting variable drug metabolizing ability thereby affecting drug therapeutic responses. Objective: To determine the genotypic frequencies of CYP2D6*1 (Normal metabolizer), *4 (Poor metabolizer) and *10 (Intermediate metabolizer) variants among schizophrenic subjects and control group from a sub-set of Karachi population. Methods: Genomic Deoxyribonucleic Acid (gDNA) was extracted and amplified with CYP2D6*4 and *10 primers using Polymerase Chain Reaction (PCR) and digested by Bacillus stereothermophilus (BstN1) and Hemophilus parahemolyticus (Hph1) restriction enzymes. The digested gDNA bands were identified as wild type or mutants and their genotypic frequencies were estimated by Hardy-Weinberg Equation (HWE). Results: In normal subjects, frequencies of CYP2D6*1 wild allele (57%) coded functional enzyme, CYP2D6*4 variant (9%) producing non-functional enzyme and CYP2D6*10 allele (70%) producing altered enzyme with reduced activity that was most prevalent in schizophrenic patients. Discussion: Drug response is a complex phenomenon that is governed by genetic and environmental factors. Antipsychotic drug metabolism among schizophrenic patients with variable drug responsesis related to CYP2D6 polymorphism. Clinically, it is imperative to differentiate between responders and non-responders using the treatment, otherwise the drug will be either nonefficacious or toxic to the patients. Therefore, a gene testing system needs to be established to identify patient’s genotype(s) predicting whether they are normal, poor, intermediate or ultrarapid drug metabolizer thereby allowing clinicians to adjust dose(s) of antipsychotic drug(s). Conclusion : Genotyping of CYP2D6 alleles among schizophrenic patients indicated prevalence of *4 and *10 variants in Karachi population producing non-functional (poor metabolizer) and reduced functional (intermediate metabolizer) drug metabolizing enzymes phenotypes, respectively. Hence, dose adjustment is crucial otherwise schizophrenia condition will not be improved satisfactorily. Therefore, CYP2D6 gene screening program should be included in clinical practice to help clinicians to prescribe appropriate doses according to patient’s genotype and minimize sufferings of schizophrenics including side effects of drug that might occur at high drug concentrations.

Evaluation of Self-medication Practice along with Prescribed Medicines among the Local Population of Karachi, Pakistan

The main theme of the study was to evaluate the usage of medicine other than their use. This is actually a problem, which was observed worldwide. It is direct associated with the patients that were using medicine to cure themselves from minor ailment without discussing with any health care professional as selection of proper medicine for any disease is the prime responsibility of health care providers. The significance of the research was to evaluate the self-medication pattern over the prescribed medicines among the local population of Karachi. So the descriptive cross-sectional study was conducted for the period of six months and participants were guided for the completion of questionnaire. Specified sample technique was used for the proper selection of participants. The average age of participants was 38.5±11.8 with minimum age of 16 and 53 was the maximum age of participant of the study. The frequent habit was taking medicines was observed mostly with age group of 24 to 36 years and mostly arts related person and businessman were taking self medication without knowing any accurate knowledge of medicines. From the prescribed medicines Steroids, antibiotics and Cetrizine were very common taken by the participants. Females participants were taking more medicines for minor ailments as compare to males. Education level and marital status were most common factors that prejudiced the risk factors awareness along with self medication among the participants. Frequency of self-medication with or without prescription was very common among the females than males. Females were using oral corticosteroids and cyprohepadine without any therapeutic need. Professional life along with marital status was considered as main pillar for the attentiveness of significant side effects associated with mal practice of taking medicine without any medical advice.

Predictive factors for acquiring HCV infection in the population residing in high endemic, resource-limited settings.

Background:In a country like Pakistan, a high prevalence of HCV persists due to a lack of awareness among the masses and the absence of adequate medical facilities in less privileged areas. Therefore, this study aimed to develop a risk-based screening tool based on the identification of predictive factors for HCV in the adult population in Karachi, Pakistan, which can later be validated for implementation.Methodology:A case-control study design was adopted and data was collected through an interview-based questionnaire from among 284 patients visiting the Family Medicine Department at The Indus Hospital, Karachi on whom the anti-HCV antibody test was conducted. Received data was then entered and analyzed using Statistical Package for the Social Sciences (SPSS) version 21.0.Result:Analysis indicated that in the entire cohort, marital status, employment status, history of being operated on in the past, family history of HCV infection, and body piercing were the factors significantly associated with positive HCV antibody. Results thus achieved show that the anti-HCV-positive rate was higher in ever married, employed, having had surgery, and family history of HCV infection (aOR: 2.42, 3.5, 2.04 and 2.5, P = 0.043, 0.002, 0.011 and 0.005, respectively).Conclusions:It is concluded that future research may be conducted enrolling the heterogeneous population to further probe the HCV burden and incidence in our society to initiate educational purposes. This goal can be achieved through commercial advertisements and free public lectures for disease prevention and better health awareness among the masses and the curers.

Perception of Halitosis among General Population

Objective: To assess the self-perception of halitosis among general population of Karachi along with the oral hygiene methods used. Secondly, the self-perception of halitosis was compared with predictor variables such as age, gender, level of education, and occupation. Study design and setting: Cross-sectional survey; a total of 401 participants of Karachi were recruited in September 2020, Pakistan. Methodology: Using Google Forms, an online questionnaire was developed and consisted of 27 questions regarding demographics and self-perceived halitosis, which was filled by the participants. For the statistical analysis, a multiple linear regression test was used to analyze any significant relation between predictor variables and self-perceived halitosis. Results: Out of the 401 participants, 168 (41.9%) were males and 233 (58.1%) were females. A total of 184 (45.9%) participants suffered from halitosis, with more prevalence in males. Mostly, 251 (62.6%) participants perceived to have halitosis themselves, with tooth brushing the most common (44.9%) way to reduce it. About 340 (84.8%) respondents brushed daily, with twice a day selected by 250 (62.3%). The coated tongue was seen by 124 (30.9%) of participants themselves. Age was found to be significantly associated with self-perceived halitosis. Conclusion: Halitosis is a frequent problem most prevalent in male gender. It has medical and psychosocial impact. Although in general, people are aware of perceiving bad breath themselves, there is still a need for public awareness campaigns to disseminate more knowledge and management options regarding halitosis. Frequent visits to dental and medical healthcare professionals should be encouraged to mitigate this problem.

Association of Some Demographic Factors with Undiagnosed Neuromuscular Insufficiencies; A Survey Report

To investigate the factors that may contribute to develop Neuromuscular insufficiencies in the general population of Karachi like age origin, occupation, kind of work, daily water intake, daily working hours and exposure time to various screens etc. Questionnaire-based survey. 150 individuals ranging between 15-65 years were interviewed with the help of a self-designed questionnaire. The data was analyzed statistically by using Microsoft Excel. Neuromuscular indications and difficulties were positive in 79% of the interviewed individuals. A major number of subjects complained to have different neuromuscular insufficiencies including, body pain (68%), joint pain (42%), numbness (42%) and muscle weakness (63%). Some of the participants reported to suffer with the difficulties in walking (13%), running (25%), holding (7%) and muscular strength (9%). However, only 29% of these sufferers were formerly diagnosed with any neuromuscular disease with18% had a family history of neuromuscular disorders. Remaining i.e., 71% are those who have not been diagnosed with any disorder and they were suffering with these symptoms. Among these un-diagnosed participants 53% had consanguineous marriages among their parents. Those, who were reported to have any of the neuromuscular problem includes: 26% students, 31% office workers, 11% labours and 33% housewives. An important factor that has appeared to contribute mainly in the development of neuromuscular insufficiencies is the time for exposure to screens like TV, Computer, Cell phone etc. Among these undiagnosed participants who were suffering with neuromuscular problem(s), 93% are being exposed to these screens for more than 5 hours a day. Another most important factor was appeared to be the daily water intake as most (88%) of those individuals’ daily water intake was less than 10 glasses per day. Back pain was the major complaint observed through this data which seems to be related with prolonged inappropriate posture.

Estimation of folic acid/micro nutrients levels; Does it reflect sperm parameters

To study the impact of vitamin B12, folic acid (FA) and methylmalonic acid (MMA) on sperm parameters; count, motility and morphology leading to male fertility. The cross-sectional study comprised of one hundred and eighty-six subjects with normal sperm parameters (fertile) and 88 subjects with abnormal sperm parameters labelled as "infertile" from a sample population of Karachi, Pakistan. Vitamin B12, FA and MMA levels in serum were analysed by enzyme linked immune sorbent assay. Unadjusted and adjusted prevalence ratio with their 95% CI were reported by using cox regression algorithm to assess the association of Vitamin B12, FA and MMA and other factors with male Infertility. Unadjusted and adjusted beta coefficients with 95% CI were reported by using linear regression analysis for assessing relationship of Vitamin B12, FA and MMA and other factors with semen parameters (count, motility and morphology); P value of <.05 was considered significant. It was declared that with every 1 unit increase in vitamin B12, FA and MMA the prevalence of infertility was decreased by 1%, 17% and 74%, respectively. Multivariate analysis revealed that vitamin B12, FA and MMA had a significant association with total sperm count, motility and morphology. The sperm parameters were also affected by increase in; LH, BMI andbody fat %. There was a significant positive correlation of; LH with Vitamin B12 and FA (0.423<0.001, 0.338<0.001) and testosterone with vitamin B12 and FA (0.326<0.001, 0.291<0.001), respectively. All the studied micronutrients; Vitamin B12, FA and MMA had a positive effect on sperm parameters; count, motility and morphology and the associated reproductive hormones which explains their role on reproductive functions required to acquire fertility.

Understanding the Incremental Impact of Built Environment on Climate Change of Metropolitan City Karachi

Buildings are the most important part of development activities, consumed over one-thirds of the global energy. Household used the maximum energy around the world, likewise in Pakistan residential buildings consumed about half of total energy (45.9% per year). The study aims to analyze the impact of building design on climate of Metropolitan City Karachi, Pakistan and to evaluate the change in urbanization patterns and energy consumption in the buildings. To have better understanding of the issues correlations was established amongst population, urbanization patterns, green area, number of buildings (residential and commercial), building design, energy consumption and metrological records (climate change parameters) by collecting the data from the respective departments. With the help of the collected data amount of carbon dioxide was estimated. The results reveled that during last 36 years the urban population of Karachi increased exponentially from 5,208,000 (1981) to 14,737,257 (2017) with increase in urbanized area from 8.35 km2 (1946) to 3,640 km2 (2017) that may led to reduce the green area of the city from 495,000 hectors (1971) to 100,000 hectors (2015). Moreover, the building’s design and numbers are being changed from 21 high-rise buildings (2009) to 344 (2017). It may be concluded that change in temperature pattern and climatic variability of the city may be due to increase in population and change in lifestyle that lead to high energy consumption that is prime source of increased in CO2 emission in the environment of Karachi city, However, Greenhouse Gases (GHG) releases are much lower than the levels reported from metropolitan cities around the world.

S1166 Prevalence and the Risk Factors of Nonalcoholic Fatty Liver Disease in Urban Population of Karachi, Pakistan: A Community-Based Study

S1166 Prevalence and the Risk Factors of Nonalcoholic Fatty Liver Disease in Urban Population of Karachi, Pakistan: A Community-Based Study

Is Karachi Knocking at Herd Immunity? A Possible Reason for Decline in SARS-CoV-2 Infections

Background: There is a sharp decline in newSARS-CoV-2 cases in Karachi from July onwards; most of them were asymptomatic. Seroconversion rates vary markedly in different countries. Herd immunity for this virus is considered to be at 60-70%. Previously, 36% of seropositivity was reported in the adult population of Karachi in July this year. The current study was conducted to report if seroprevalence has reached the threshold of herd immunity.Methods: This was a prospective cross-sectional study conducted in the first and second weeks of September 2020 at the National Institute of Blood disease and Bone Marrow Transplantation Hospital (NIBD), Karachi, Pakistan. Blood samples were collected from different segments of the population of Karachi workforce/community. An anti-SARS-CoV-2 test was performed using ECLIA from Roche Diagnostics International.Results: A total of 2404 subjects’ blood samples were received from healthcare workers, the industrial workforce, and healthy blood donors. Seroprevalence in industrial workers was highest (70%) as compared to healthcare workers (40%). Overall seropositivity in males (39%) was higher than females (16%). Blood donors (all males) showed a seropositivity of 37.8%. The co-morbid state was not significantly associated with seropositivity (p-value >0.05). Total cases of antibody-positive were 1322 of 2100 (55 %).Conclusion: Our results confirmed the current seroprevalence of 55% in the adult population in Karachi. There was a sharp rise from 36% reported previously in July. This rise coincided with a sharp decline in new reported COVID cases. We can conclude that we are approaching the target of herd immunity in Karachi.

Investigating Age Dependent Diversification of Bone Biomarkers in Females

Background: Bone is responsible to perform vital functions to provide support and maintain the structure of the body. Due to certain reasons, the bone encounters certain disorders which affect the bone functionality, especially aging in females.&#x0D; Objectives: The study was designed to establish a relationship between biomarkers of bone metabolism with age &amp; to analyze the occurrence of bone disorders with increasing age, specifically in females.&#x0D; Methodology: Random samples of females were collected from the population of Karachi spliced as control with less than 30 years of age and as tests with late 30 years of age. The analysis was done exclusively with the detection of biochemical markers of bone turnover, including calcium, phosphorus, alkaline phosphatase, rheumatoid factor (RF) and C-reactive protein (CRP). The relationship between bone health, lipid profile, glycemic index and blood profile were also analyzed.&#x0D; Results: Results depicted that alterations in normal serum concentrations of all biomarkers were frequent in elder females as compared to the younger ones.&#x0D; Conclusion: In conclusion, the biomarkers of bone metabolism are closely related with age, evaluating that older females are more prone to the risk of developing bone diseases. The variables portrayed were useful in understanding their role with reference to age in the development of bone.

Vitamin D deficiency in the population of Karachi, Pakistan; A cross-sectional study

Background: Vitamin D deficiency affects over one billion people globally, which results in the progression of severe health consequences and chronic diseases. Literature indicates high rates of vitamin D deficiency in the Pakistani population. Thereby, this current study was aimed to determine the status of vitamin D deficiency in the population of Karachi.&#x0D; Methodology: This descriptive cross-sectional study was conducted during January to December 2017 at the Dadabhoy Institute of Higher Education (DIHE). A total of 1159 healthy individuals aged between 18-72 years were selected for the study. Data was collected through a questionnaire seeking the demographics of the participants. For the quantitative colorimetric immune-enzymatic determination of 25(OH) vitamin D concentrations in the human plasma level, venous blood was collected and was analyzed using a vitamin D Enzyme-Linked Immunosorbent Assay (ELISA) kit. Statistical analysis was carried out using SPSS version 20.0.&#x0D; Results: A total of 1159 participants were included in the study with the mean age of 40.1±15.2 years. It was observed that 59.1% of participants had deficient vitamin D levels, while 22.6% of participants had sufficient vitamin D levels. There was a significant association between gender and vitamin D status (p &lt; 0.05), as the majority of females (68.5%) were vitamin D deficient as compared to males (31.5%). In contrast, no significant association was found between age and vitamin D levels, with the most deficient age group being 18 to 28 years.&#x0D; Conclusion: It is concluded from the study results that vitamin D deficiency was prevalent in the studied population, despite increased exposure to sunlight. The initial screening for early detection and correction of the condition must be considered as an essential component of the national health strategy, as there is a need to detect and combat the burden of vitamin D deficiency in the country.

Association of polymorphism c.-124G>A and c.-16 C>T in the promoter region of human INHA gene with altered sperm parameters; A pilot study.

The objective of this was to demonstrate the association of Inhibin α (INHα) c.-124G>A and INHα-c.-16 C>T polymorphisms with altered sperm parameters in a selected male population of Karachi, Pakistan. In this pilot study, male subjects were stratified on the basis of the WHO criteria for altered sperm parameters; 83 (cases-altered sperm parameters) and 30 (controls-normal sperm parameters) subjects were included for analysis of INHα-c.124G>A polymorphism and 88 (cases) and 38 (controls) were analysed for INHα -c-16 C>T polymorphism. Genotyping of INHα-c.-124G>A and INHα-c.-16 C>T was performed by PCR-RFLP, genotype distribution in Hardy-Weinberg equilibrium was evaluated by binary logistic regression model. For the c.-124G>A polymorphism in INHα gene, frequency of the three major genotypes in controls was: GG: 80.0%, GA: 20.0% and AA: 0% and in cases was: GG: 59.0%, GA: 30.2% and AA: 10.8%. The GG genotype was significantly associated with male infertility (P < .045, OR = 2.776, 95% CI = 1.025-7.513) while the GA genotype was not significantly associated with infertility (P < .290 OR = 0.580, 95% CI = 0.211-1.593). Frequency of mutant AA genotype was 10.8% in cases (altered sperm parameters) and absent (0%) in normal sperm parameter (controls). The frequencies of three major genotypes CC, CT and TT did not show any significant difference between cases and controls (P > .05). The results from our study exhibited a significant association of c.-124G>A polymorphism in the INHα gene promoter region with male infertility in the Pakistani population. A significant association of c.-16 C>T polymorphism with male infertility, however, was not observed. Further large-scale studies should be conducted to confirm this association.