Indian Population Groups Research Articles

Mannose-Binding Lectin Gene Variants as Disease Susceptibility Biomarkers in Rheumatoid Arthritis.

Background: Rheumatoid arthritis (RA) is a chronic, inflammatory autoimmune disease characterized by progressive destruction of peripheral joints. About 1% of the human population worldwide is suffering from this disease. The pathophysiology of RA is largely being influenced by immune dysregulation. Mannose-binding lectin (MBL), an acute-phase protein, has been reported to play an important role in pathogenesis of RA by the activation of complement pathway. Various studies documented the established the role of MBL in pathogenesis of various autoimmune diseases, including RA. MBL protein is encoded by gene MBL2, mapped on chromosome 10q11.2-q21. Objective: Both MBL serum levels and activity are mainly determined genetically by its variants. So considering the putative clinical role of MBL2, this case-control association study was designed to assess its six functional variants in a northwestern Indian cohort. Methods: Genetic typing of six MBL2 variants was done by amplification refractory mutation system-polymerase chain reaction. Data were analyzed using suitable statistical tools. Results: Significant difference has been observed in genotypic and allelic distribution between cases and controls for rs11003125. Comparison of allelic distribution for rs1800450 showed significantly high prevalence of A allele in cases than controls. Conclusion: These results indicate that MBL2 variants may act as plausible marker for susceptibility toward RA. Keeping this in view, it is pertinent to screen these variants in other population groups of India.

Three-dimensional volumetric analyses of temporal bone pneumatization from early childhood to early adulthood in a South African population.

A debate exists on whether the size of temporal bone pneumatization is a cause or consequence of otitis media (a global disease burden). However, a normal middle-ear mucosa is a prerequisite for normal temporal bone pneumatization. This study investigated the size of temporal bone pneumatization with age and the normal distribution of air cell volume in different stages of human growth postnatally. A three-dimensional computer-based volumetric-rendering technique was performed bilaterally on 248 head/brain and internal acoustic meatus computed tomography images of slice thickness ≤ 0.6 mm consisting of 133 males and 115 females with age range 0-35 years. The average volume of infant (0-2 years) pneumatization was 1920 mm3 with an expected rapid increase to about 4510 mm3 in childhood (6-9 years). The result also showed a significant increase (p < 0.001) in the volume of air cells up to the young adult stage I (19-25 years), followed by a significant decline in young adult stage II (26-35 years). However, the females were observed to experience an earlier increase than males. Also, population differences were observed as the Black South African population group showed a higher increase in volume with age than the White and Indian South African population groups, though the volumes of the latter increased up to young adult stage II. This study concludes that the pneumatization of a healthy temporal bone is expected to continue a linear increase up until at least adult stage I. Termination of temporal bone pneumatization in an individual before this stage could signify pathologic involvement of the middle ear during childhood.

Estimation of Dental Age by Mandibular Third Molar Through Digital Orthopantomogram Using Modified Demirjian Method In South Indian Population Visiting A Dental College- A Retrospective Study

Aim: The aim of this study was to evaluate the applicability of Demirjian’s method for dental age assessment in a group of South Indian population and to develop an age-predictive equation suitable for the studied group. Subjects and methods: In this retrospective, blind, cross-sectional study, 120 Digital Orthopantomograms were selected from the archived medical files of patients attending Dental College and evaluated to estimate dental age. Results: Age was over estimated for almost all of the studied subjects with an accuracy range from 0.18 to 1.19 years for males and from 0.08 to 0.87 years for females, with the exception of two age subgroups Conclusion: Demirjian’s method is very useful and suitable for the South Indian population. The development of a prediction equation and the introduction of adaptable conversion tables to transform the maturity score into a dental age for the South Indian population with population-specific samples may be suitable alternatives.

Aging and Health Challenges of Tribal Population: An Empirical Study Among Car Nicobarese of Nicobar Island of India

The aim of the present study was to examine the aging and associated health challenges among the Car Nicobarese. The study was conducted among 165 Car Nicobarese (20–80 years old), a tribal population of Nicobar Island of India. A comparative assessment of this tribal population with other island/coastal regions tribal population groups in India and in global context has been highlighted. Anthropometric variables, physiological functions, and adiposity indices were studied. Anthropometric variables included weight, height, sitting height, upper arm circumference, chest circumference, waist circumference, abdomen circumference, hip circumference, and physiological functions included blood pressure, FVC, FEV1.0, and muscular strength. Adiposity indices, including BMI, GMT, WHR, and WHtR, have been computed. Cardio respiratory function, adiposity indices, and muscular strength indicated declining health with advancing age among Car Nicobarese. Significant differences ( p &lt; 0.001) were obtained between adult Car Nicobarese and elderly Car Nicobarese for most of the variables under study. A further exploration of the risk factors and associated health challenges among the tribal population of India will help to prepare effective policies to prevent, control, and manage the health challenges in a better way. Serious steps to improve health education and promotion have to be made in the tribal communities.

Reassessing Reification: Ethnicity amidst “Failed” Governmentality in Burma and India

AbstractIn part because a single colonial project eventually formally incorporated Burma as an appendage to British colonial rule of India, Burma scholars persistently draw on historiography and anthropology of India to assert that ethnic categories in Burma were “reified” and hierarchized by colonial governmentality and ensuing postcolonial statecraft. This article disputes such assumed equivalences, re-theorizing “reification” through the concept of governmentality to distinguish modes of regulation and the kinds of social responses incited, suggesting that India and Burma stand as respective exemplars of distinct governmental forms. Specifically, scholarship represents Indian population groups (of caste, tribe, ethnicity, etc. permutations) as being reified by dense and reinforcing applications of knowledge/power. Even when these various and interlinking regulatory apparatuses “fail” to accurately describe social reality, they interpellate a response from subject populations, a process that operates to dialectically reinforce the categories. Conversely, similar governmental apparatuses desultorily implemented in Burma have operated differently. While they have succeeded in making South Asian and Muslim subjects into Burma’s self-perceived constitutive outside, governmentality has “doubly failed” on itstaingyintha(indigenous) subjects. Poor knowledge of these Burmese peoples has foreclosed intensive projects of knowledge production, leading to “misinterpellation,” a form of metapragmatic awareness in which subjects recognize that discourses misdescribe them, and then strategically maneuver with(in) those labels. Ethnic emblems become hollow integuments navigable with comparative ease, as individuals modify their particular bodily and dispositional indices. The article concludes by encouraging comparative postcolonial governmentality studies that would delineate particularities in a concept (governmentality) that often remains unnuanced.

Association of Human Leukocyte Antigen Gene Variants rs13192471 and rs6457617 with Rheumatoid Arthritis Susceptibility: A Case-control Study from North-western India

Introduction: Rheumatoid Arthritis (RA) is a systemic, chronic, inflammatory, and autoimmune disease which is characterised by the progressive ruination of joint structures. The Human Leukocyte Antigens (HLA) genes: HLA-DRB1 and HLA-DQB1, belonging to HLA family, presented on human chromosome six, are involved in the immune system. Various studies involving Genome-wide Association Studies (GWAS), meta-analysis, and replication studies have shown the association of HLA-DRB1 variant rs13192471 and HLA-DQB1 variant rs6457617 with RA susceptibility in different population groups. Aim: To perform a replication case-control based association study of variants rs13192471 and rs6457617, in order to determine their association with RA, in an independent cohort from the population of North-western India. Materials and Methods: The Case-control study conducted at Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar, Punjab, India, duration of the study was, from May 2019 to June 2022. In this study, Deoxyribonucleic Acid (DNA) was isolated from 188 RA cases and 310 healthy controls, followed by qualitative and quantitative analyses. The genotyping was performed on a Real Time-polymerase Chain Reaction (RT-PCR) using TaqMan Allele Discrimination Assay. Statistical power of the study was estimated using PS: Power and sample size calculator version 3.1. Results: The statistical analysis of the genotyping data showed a significant association (p=0.005) of variant rs13192471 with RA susceptibility, whereas the variant rs6457617 did not show an association (p=0.275) with RA in the studied population cohort. Conclusion: The present study successfully replicated the association of HLA-DRB1 variant rs13192471 in the population group of North-western India. It is pertinent to screen these variants for RA susceptibility in other population groups of India before their use as potential genetic biomarkers in the Indian population.

A morphometric assessment of developing permanent dentition for age and sex estimation in a select South African sample

Dentition plays a crucial role in the fields of forensic science, forensic odontology and anthropology for age and sex estimation. The aim of this study was to determine the degree of sexual dimorphism and age prediction capabilities of permanent dentition using morphometric analysis. Six hundred digital panoramic radiographs (n = 600), belonging to 300 South African Black and 300 South African Indian, aged between 5.00 and 19.99 years were retrospectively examined using a cross-sectional design. The Pearson Correlation Coefficient tests were conducted to determine if a correlation exist between age, sex and each morphometric parameter. “Stepwise Regression Analysis” and “supervised machine learning classification” with a recursive feature elimination and logistic regression were then utilized to parsimoniously prune the morphometric parameters to determine the best models for age and sex estimation, respectively. Males generally displayed larger tooth dimensions than females, with the South African Black population group having larger tooth dimensions than the South African Indian population group. The morphometric parameters of the dentitions showed little sexual dimorphism, with weak correlations less than 0.1, in this study. However, strong correlations between age and the tooth length of the second and third maxillary and mandibular molars (R2 > 0.89) were recorded for the select South African Black and Indian population groups. In conclusion, the sex estimation formulae generated in this study had low performance accuracies for both population groups. However, the age estimation formulae developed from “Stepwise Regression Analysis” in this study were reliable predictors of age, with the tooth and root lengths displaying the best models for age estimation for the South African Black and Indian sample (R2 > 0.9).

The Application of the Cameriere's Methodologies for Dental Age Estimation in a Select KwaZulu-Natal Population of South Africa.

Background: The estimation of an individual’s age is a fundamental component of forensic odontology. Literary reports found that the efficiency of Cameriere methodology for age estimation varied among many population groups. Therefore, this study aimed to determine the applicability of the Cameriere methods to a select South African population of the KwaZulu-Natal (KZN) province. Materials and Methods: This cross-sectional retrospective study was conducted on 840 digital panoramic radiographs that met the inclusion criteria. Dental maturity was determined through the morphometric analysis of the seven left permanent mandibular and maxillary teeth in accordance with Cameriere et al. (2006). Moreover, the dental age was also calculated using the South African Black Bayesian formulae of the Cameriere method by Angelakopoulos et al. (2019). The paired sample t-test or Wilcoxon’s signed rank test assessed the significant difference between the chronological age and estimated dental age for the various formulae. A p-value < 0.05 was considered to be statistically significant. Results: The Cameriere et al. (2006) Italian formula and the South African Black Bayesian formulae of the Cameriere method by Angelakopoulos et al. (2019) underestimated and overestimated age in the South African Black and Indian population groups of the KZN province, respectively. Therefore, the authors generated a novel population-specific regression formulae (including and excluding third molars) using “step-wise regression analysis” and a “best-fit model” for the South African Black and Indian population groups of KZN. Conclusion: This study recommends that the population-specific formulae generated in this study be utilized in the KZN population to improve the accuracy of dental age estimation within this region.

Applicability of the Nolla Classification Scheme within the KwaZulu-Natal population of South Africa

BackgroundDental age estimation is important in clinical practice for orthodontic treatment, forensic sciences and radiology. The Nolla (1960) classification scheme is one of the most frequently utilized estimation tools in teaching and clinical practice. However, the applicability of the Nolla (1960) classification scheme in determining age in a select KwaZulu-Natal population of South Africa is unknown. Therefore, this study aimed to determine the applicability of the Nolla Classification Scheme on a select South African sample of KwaZulu-Natal and develop a regression model to extend the Nolla (1960) maturation and age norm tables beyond 17 years. Materials and methods840 digital panoramic radiographs of individuals aged between 5 and 25 years met the inclusion criteria. The 8 maxillary and 8 mandibular teeth in the left quadrant was analysed using the Nolla (1960) Classification Scheme. The paired T-test, Wilcoxon and Polynomial Regression Analysis were performed. ResultsThe original Nolla (1960) method over-estimated age for the entire sample in this study by −0.39 and −0.57 years in females and males, respectively. While, the modified Nolla (1960), highlighted an overall under-estimation in females, but over-estimation in males aged between 18.00 and 18.99 years. ConclusionThe Nolla Classification scheme over- or under-estimated dental age with the select population group, therefore population-specific tables were developed for the South African Black and Indian population groups of KwaZulu-Natal. This may increase the accuracy of age estimation of the selected South African sample within the KwaZulu-Natal region.

Morphometry of Sella Turcica, Anterior Clinoid Process and Carotico-clinoid Foramen among North Indian Population: A Cross-sectional Study

Introduction: Sella Turcica (ST), a complex bony landmark located on the body of sphenoid bone. Its lateral bony wall mainly consists of anterior and posterior clinoid processes and optic strut which bear a strong relationship with pituitary fossa. Aim: To estimate various morphometric parameters of ST, Anterior Clinoid Process (ACP) with its anatomical variations, Optic Strut (OS) and Carotico-clinoid Foramen (CCF) among North Indian population group. Materials and Methods: The present cross-sectional anatomical study was conducted on 30 adult dry fully ossified skull and 10 formalin fixed adult cadaveric cranial base present in the Department of Anatomy, SGT University Gurugram, Haryana, India, over a period of one year from January 2021 to December 2021 to evaluate various morphometric parameters such as anteroposterior, transverse diameter and depth of sellar region including ACPs with various bony distances. The range, mean and standard deviation of each parameters were measured by using Statistical Package for the Social Sciences (SPSS) latest version (version 21.0) and Student’s t-test was applied for bilateral comparison. Frequency of morphological variability of CCF was calculated in percentages. Results: Among the 40 samples (both dry skull base and cadaveric skulls) the average dimensions of ST were 10.03±2.40 mm, 13.65±2.09 mm and 5.74±1.92 mm as anteroposterior, transverse and depth, respectively. The length, width and thickness of ACP were 11.22±1.74 mm, 8.04±1.73 mm and 2.27±0.70 mm, respectively. Also the length and width of OS were 3.61±0.78 mm and 3.72±0.47 mm, respectively. Significant difference was observed for distance of ACP to OS. The frequency of CCF was 10 (25%) among the total samples both bilateral and unilateral; out of which 8 (80%) of the samples presented with incomplete foramen, 1 (10%) presented contact type of CCF, and 1 (10%) of the samples exhibited a complete variety of CCF. Conclusion: Bilateral significant difference was observed for the transverse diameter. The mean value for length of ACP was found significant. Detailed morphometry and morphological variations of structures present in sellar region is mandatory for the clinicians specially neurosurgeons and radiologist for the diagnosis and to decide the modality of treatment.

The incidence of fragility hip fractures in a subpopulation of South Africa

Background. Fragility hip fractures (FHFs) are associated with significant morbidity, mortality and burden on the healthcare system. European and North American literature suggests that the worldwide incidence of FHFs is increasing, but very little is known about the incidence of FHFs in Africa and South Africa (SA). Historically FHFs were believed to be uncommon in black African populations, but recent studies have shown a marked increase in the incidence compared with the early literature. Objectives. To investigate the age-, gender- and population group-specific incidences of FHFs in a subpopulation in Eastern Cape Province, SA. Methods. A retrospective review of all patients presenting with FHFs was performed at a tertiary hospital in the Eastern Cape over a 1-year period. Age-, gender- and population group-specific incidence rates were calculated for 5-year age intervals using the age distribution data of the western region of the Eastern Cape (WREC) as a denominator for each age group. Overall crude incidence rates were calculated by using the sum total of FHFs, divided by the study population. All incidences were calculated as number of fractures per 100 000 people annually. Results. A total of 253 patients with FHFs were included. The crude incidence rate of low-energy hip fractures in the WREC was 19.3 per 100 000 (males 14.6, females 23.4) over the study period. Population group-specific incidences were 15.1, 18.7, 19.9 and 46.6 per 100 000 for black, coloured, Indian and white population groups, respectively. The highest number of low-energy hip fractures in females occurred in the ≥85-year (19.6%) and 70 - 74-year (16.5%) age groups, with the highest number of male cases observed in the 60 - 64-year group (20.2%). The highest frequency distribution of FHFs was observed in black males aged 60 - 64 years (5.5%; n =14) and black females aged 70 - 74 years (6.3%; n =16). Conclusions. The local incidence of FHFs is higher than initially reported, but when compared with other countries remains on the lower end of spectrum. A large proportion of FHFs are occurring in young patients (<65 years). These findings warrant further investigation that may prompt the development of preventive strategies and optimal treatment programmes.

A Survey-based Study of Psychological Impact of Lock Down Due to COVID 19 Pandemic on Indian Working Class Using Statistical Design

The novel coronavirus (COVID-19), identified within the Wuhan, Hubei Province of China in November 2019, needs distinct attention because of its fatal nature. The spreading of any infectious diseases is generally prevented by quarantine and containment or locking down of the populations in danger. Countries suffering from COVID-19 are declaring the country lockdown and restricting public movement. India also has declared full lockdown and restricted public movement to a large extent. Such drastic steps have a severe psychological impact on populations. Being locked up for weeks in a very confined space with the same group of individuals being depressed, nervous, and tired, which is further aggravating various domestic and interpersonal issues. A web-based survey was formed which supported a cross-sectional sampling method and collected data across different working-class population groups in India. The responders had a beginner level of knowledge about the COVID-19 infection and adequate knowledge about its preventive aspects was unknown. Results indicate that 13% of the respondents experienced severe anxiety, 11% moderate anxiety, and 28% are mildly anxious. The results suggest that governments should find effective ways to disseminate unbiased COVID-19 knowledge to reduce population insecurity and provide the best mental equipment to cope with the pandemic.

Genetic association of ARID5B with the risk of colorectal cancer within Jammu and Kashmir, India.

Colorectal cancer (CRC), which includes the development of cancer from the colon or rectum, is one of the highly prevalent cancers in the populations of Jammu and Kashmir (J&K) in India. However, case-control genetic association studies on CRC are lacking in this population. Various genome-wide association studies have previously shown that single-nucleotide polymorphisms (SNPs) of the AT-rich interaction domain 5B (ARID5B) gene located on chromosome 10q21.2 contribute substantially to the development of colorectal cancer. The association between ARID5B and CRC risk in north Indian population groups is still unknown. To understand the role of ARID5B SNPs in CRC in the population of J&K, we designed a case-control study to investigate the association of the cancer susceptibility variant rs10740055 of ARID5B with CRC in the population of J&K. The study included 180 cases and 390 healthy controls. Genotyping of the rs10740055 variant was performed by RT-PCR using the TaqMan assay technique. Hardy-Weinberg equilibrium of the variant was assessed using the chi-squared test. The allele- and genotype-specific risks were estimated by odds ratios (ORs) with 95% confidence intervals (CIs). The rs10740055 variant showed a higher risk for colorectal cancer with an OR of 3.35 (1.99-5.65 at 95% CI) and P = 0.000005 corrected for age, gender, ethnicity, BMI, alcohol intake and smoking. Our results indicate that the A allele of rs10740055 imparts risk to the population and also that a larger sample size is needed for further statistical validation. The association of other variants in other ARID family genes should also be tested as their role cannot be ruled out.

Autistic traits in Indian general population and patient group samples: distribution, factor structure, reliability and validity of the Autism-Spectrum Quotient

PurposeThe Autism-Spectrum Quotient (AQ) is a widely used tool to quantify autistic traits in the general population. This study aims to report the distribution, group differences and factor structure of autistic traits in Indian general population. The work also assesses the criterion validity of AQ across three patient group samples – autism spectrum disorder (ASD), obsessive-compulsive disorder and social anxiety disorder.Design/methodology/approachIn this study, psychometric properties of the adapted AQ were assessed among 450 neurotypical university students matched for age. Confirmatory factor analysis was done to see if the adapted AQ fits the original factor structure. Test–retest, internal consistency reliability and criterion validity were found out. Group differences (gender and field of study) in AQ were also assessed.FindingsAutistic traits were found to be continuously distributed in the population, and patterns of group differences were consistent with previous studies. The adapted AQ had five factors resembling the original factor structure with a good fit, and 38 items instead of the original 50 items. Acceptable reliability coefficients were demonstrated along with criterion validity across clinical groups.Originality/valueThis work is the first to present the pattern of distribution and factor structure of autistic traits among neurotypical adults from Eastern India, a culturally different population, as well as a reliable and valid tool to assess autistic traits in Bengali, a language with 300 million speakers. The findings add to the growing literature on AQ measurement and the concept of autism as a quantitative trait, examined outside of the western samples.

A STUDY OF THE DIMENSIONS OF HUMAN ACETABULUM IN THE DRY HIP BONES OF SOUTH KERALA POPULATION

Introduction: In human anatomy the acetabulum is a cavity on the lateral aspect of the hip-bone. The purpose of this study is to record the depth and diameter of the acetabulum cavity to accumulate morphological data helpful for anthropologists, Forensic medicine experts and orthopedicians. Materials And Methods: The study was done on 88 adult human hip bones (42 right and 46 left) collected from Department of Anatomy, Govt.T.D Medical College, Alappuzha, Kerala state. The diameters and maximum depth were measured using digital vernier calliper. The measurements were compared with other studies in the world. The mean diam Results: eter of acetabulum was 48.08 ± 3.21mm, 44.16 ± 2.60 mm in male and female respectively. The mean ± S.D value of depth was 29.11± 2.37 and 27.20± 2.01 mm. in male and female respectively. The correlation between depth and diameter was signicant only in the right male hip bones. There is signicant variation in the Conclusion: anatomical parameters of hip bone between different Indian population groups. The data from this study may be used for designing population specic hip prosthesis.

Mitigating the COVID-19 pandemic in India: an in-depth exploration of challenges and opportunities for three vulnerable population groups

PurposeThe COVID-19 pandemic is certain to have an unprecedented impact on the global population, but marginalized and vulnerable groups in low-income countries (LICs) are predicted to carry the largest burden. This study focuses on the implications of COVID-19-related measures on three population groups in India, including (1) migrant laborers (of which a majority come from Scheduled Castes (SCs) and Scheduled Tribes (STs), as well as Other Backward Classes (OBCs)), (2) children from low-income families and, (3) refugees and internally displaced persons (IDPs).Design/methodology/approachThis study adopts a sequential mixed-method research design. A desk-based study of a selection of government reports was undertaken on the COVID-19-related mitigation measures. The desk study was followed by in-depth interviews with purposively recruited high-ranking experts in specific sectors of policy implementation and service delivery across the country.FindingsThe outcomes of this study shed light on (1) the most urgent needs that need to be addressed per population group, (2) the variety of state-level responses as well as best practices observed to deal with mitigation issues and (3) opportunities for quick relief as well as more long-term solutions.Practical implicationsThe COVID-19 pandemic has not only reduced people's means of maintaining a livelihood but has simultaneously revealed some of India's long-standing problems with infrastructure and resource distribution in a range of sectors, including nutrition and health, education, etc. There is an urgent need to construct effective pathways to trace and respond to those people who are desolate, and to learn from – and support – good practices at the grassroot level.Originality/valueThe current study contributes to the discussion on how inclusive public health might be reached.

The role of carcinoembryonic antigen as an assessment tool for predicting disease severity among patients with colorectal cancer in resource-poor setting of Kwazulu-Natal, South Africa.

Introductionthe most reliable screening tool for colorectal cancer, colonoscopy, is not readily accessible in resource-deprived settings of KwaZulu-Natal. The aim of this study was to determine whether serum carcinoembryonic antigen (CEA) levels in patients symptomatic for lower gastrointestinal (GI) pathology correlates with the histological presence and severity of primary colorectal cancer in a large referral centre. Perhaps CEA may have a larger role as a marker for colorectal cancer (CRC) development in these resource deprived communities.Methodsthis study was a retrospective analysis of prospectively collected clinical data of 380 pretreatment patients with colorectal cancer attending a tertiary referral centre in KwaZulu-Natal. Data were analyzed using descriptive statistics and findings were compared with those from the existing literature.Resultsthe mean CEA level of the study population was 170.0 ± 623.3 μg/l. The number of participants with a CEA level <5 μg/l was 151 (39.74%) whilst the majority 229 (60.26%) had a CEA level ≥ 5 μg/l. There was no significant correlation between CEA levels and gender (p=0.8) or age (p=0.6). CEA levels were highest in the black African race group. Pairwise comparison demonstrated a statistically significant difference between the black and Indian population groups (p=0.02). The current study demonstrates an upregulation of CEA as the stage of CRC progresses (p<0.0001).Conclusionthere was no significant difference in CEA levels across age and gender. A positive correlation was noted between CEA level and stage of CRC. Carcinoembryonic antigen levels were highest in the black race group. Low sensitivity of CEA as a screening test for CRC was confirmed.

Identification of Carotid Artery Calcifications on Digital Panoramic Radiograph in a Group of South Indian population: A Retrospective Study

Background: Stroke had been the leading cause of death in industrialized countries, following cardiovascular disease and cancer. Aim and Objective: The present study aims to evaluate the fact that dental practitioners as health care providers ought to play their part in the early detection of patients at risk of having a cerebrovascular stroke. Materials and Methods: Initial study design consisted of 1000 panoramic radiographs (PRs), which were taken for patients visiting the department of Oral Medicine and Radiology. Two examiners reviewed all the radiographs. Sixty-one patients were found to have suspected carotid artery calcifications. Out of them, only 43 patients were subjected to Doppler ultrasound for confirmation of the carotid artery calcifications (CAC's). Results: Out of the 61 patients suspected of having carotid calcifications, 30 were male (49.2%) and 31 were female (50.8%) P value=0.844.Patients with age group between 51-61 had higher incidence of calcifications on orthopanograph (OPG). Mean age of the patients with calcifications on OPG was 56.67 ± SD of 10.15 (p=0.004). Of the final 43 subjects, only 11 patients were confirmed to have positive carotid calcifications in Doppler ultrasonography study. Out of 11 patients, only 9 patients had atherosclerotic plaques that were not hemodynamically important and 2 patients had less than 50% carotid artery stenosis. Based on the Kappa value of 0.397, the level of agreement would be moderate with p value &lt;0.001. Conclusion: Our study suggests that panoramic radiography can be a significant measure for detecting stroke prone patient. The role of Dental practitioners can be extended further, and overcome certain obstacles before panoramic radiography can be implemented as a new screening method for patients at risk of having a stroke.

Genetic variant rs2494938 of LRFN2 gene is associated with non-small cell lung cancer risk in North-Indian population.

Various Genome-wide association studies (GWAS) have reported the association of variant rs2494938 with lung cancer. However, genetic association of LRFN2 genetic variation with non-small cell lung cancer (NSCLC) in North Indian population remained unexplored. We conducted a case-control association study using TaqMan-based chemistry in which a total of 619 individuals, 189 NSCLC cases and 430 controls, were genotyped to explore the association of rs2494938 genetic variant of the LRFN2 gene with NSCLC patients from North India. The allele 'G' (risk allele) of the genetic variant rs2494938 was significantly associated with the NSCLC [OR = 1.51 (1.18-1.93 at 95% CI); p value = 0.0009]. Genetic association was also explored by applying different genetic models (Dominant, Additive). These results suggest that rs2494938 polymorphism of the LRFN2 gene is a risk factor in the North Indian populations to develop NSCLC. The LD (Linkage Disequilibrium) plot demonstrates the variant and its LD SNPs (r 2 > 0.8) and the variant has direct regulatory effect, which could affect the overall physiology of the gene. These findings could be used as diagnostic and prognostic markers in clinical studies of lung cancer patients in North Indian population groups. The present study also provides an important evidence on the genetic etiology of NSCLC in North Indian populations and further expounds GWAS findings on the role of LRFN2 in lung cancer risk. This study provides the holistic view about the non-small cell lung cancer in Jammu and Kashmir, North Indian population and it can be a hallmark of cancer if verified on a very large sample size (cohort).

Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group

Telomere length attrition has been implicated in various complex disorders including Type 2 Diabetes (T2D). However, very few candidate gene association studies have been carried out worldwide targeting telomere maintenance genes. In the present study, variants in various critical telomere maintenance pathway genes for T2D susceptibility in Northwest Indian population were explored. With case-control candidate gene association study design, twelve variants from seven telomere maintenance genes were evaluated. Amongst these five variants, rs9419958 (OBFC1), rs4783704 (TERF2), rs16847897 (TERC/LRRC31), rs10936599 (TERC/MYNN), and rs74019828 (CSNK2A2) showed significant association with T2D (at p-value ≤ 0.003, threshold set after Bonferroni correction) in the studied population. In silico analyses of these variants indicated interesting functional roles that warrant experimental validations. Findings showed that variants in telomere maintenance genes are associated with pathogenesis of T2D in Northwest Indian population. We anticipate further, such candidate gene association studies in other Indian populations and worldwide would contribute in understanding the missing heritability of T2D.