Southern Indian Population Research Articles

The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians.

Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence ofBRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing hereditary breast and ovarian cancers. We also aimed to identify population specific BRCA1/2 mutation hotspots, to enable the development of more affordable testing strategies. We identified 921 patients with breast and ovarian cancer who underwent mutation testing. The target enrichment wasfollowed by targeted NGS in 772 patients and an allele-specific PCR (ASPCR) based genotyping for BRCA1:c.68_69delAG (or 185delAG), was carried out in 149 patients. We identified 188 (20.4%) patients with BRCA1/2 variants: 118 (62.8%) withpathogenic/likely pathogenic and 70 (37.2%)with VUS. The 185delAG was identified as a recurrent mutation in the Southern Indian population, accounting for 24.6% of the pathogenic variants. In addition, a family history of breast, ovary, pancreas, or prostate (BOPP) cancer was found to be associated with an increased risk of identifying a deleterious BRCA1/2 variant [OR = 2.11 (95% CI 1.45-3.07) p ≤ 0.001]. These results suggest that TargetedNGS is a sensitive and specific strategy for BRCA testing. For Southern Indian patients, a two-tiered approach can be considered: Initial screening with ASPCR for BRCA1185delAG followed by NGS for those testing negative. Expanding the gene panel and identifying other population-specific mutation hot spots is a promising area with potential for improvements in testing and treatment strategies.

Multi-scale habitat influences sprainting and group size of a freshwater-obligate smooth-coated otter (Lutrogale perspicillata) in Tungabhadra Otter Conservation Reserve, India

BackgroundThe impact of changing land-use patterns and associated anthropogenic threats on scale-dependent habitat use of semi-aquatic mustelids in scent-marking and social behaviour can provide important insights into the habitat ecology of smooth-coated otters (Lutrogale perspicillata).MethodsWe sampled 180 stream segments (100–400 m) as spatial replicates of 60 1-km2 sites to record indirect evidence (i.e. spraints and mass latrine sites) and group sizes of smooth-coated otters along the Tungabhadra Otter Conservation Reserve (TOCR) during the dry season. To quantify habitat, we recorded stream characteristics, riparian vegetation, and anthropogenic disturbances at the local scale, and hydro-environmental characteristics and land uses at the landscape scale. Using Markovian-chain detection and occupancy models, we assessed the multi-scale habitat use of otters in their selection of suitable areas for scent-marking based on repeated presence-absence data on spraint/latrine locations along the TOCR. We further used linear regression techniques to explore relationships between the number of individuals in smooth-coated otter group and hydro-environmental characteristics, spraint/latrine encounter rate, anthropogenic pressure, land cover, topography, and vegetation.ResultsAt the local scale, the probability of spraint deposition and group size decreased with anthropogenic disturbance while the probability of spraint detections decreased with grass cover. At the landscape scale, the probability of otter site use for spraint deposition and group sizes increased in southeast flowing streams. Spraint deposition increased with the proportion of sugarcane fields, whereas in contrast, group size decreased with proportion of sugarcane fields.ConclusionsOur findings highlight the first empirical evidence on multi-scale habitat use of a southern Indian population of smooth-coated otters in an inland freshwater ecosystem surrounded by the scrub jungle–agriculture matrix. We suggest that habitat models built from analytical approaches that account for correlated detections can avoid biased predictions when estimating occupancy and detection probability of semi-aquatic or riparian mammal communities with linear distributions. Our findings indicate that human activity can impose constraints on the choice of sites used for spraint deposition and preliminary patterns in otter groups. The study provides some crucial evidence on the need to maintain areas with minimal human interference for sustainability of freshwater reserves.

Genetic Susceptibility Profile of the Southern Indian Population of Hyderabad for Coronary Artery Disease

In order to portray the genetic susceptibility profile of the population of Hyderabad a prioritized set of 192 SNPs belonging to the 11q23.3, 9p21.3 and other CAD specific genomic regions were genotyped in a sample of ~500 cases and 500 controls. After data pruning, pair-wise logistic regression analysis of 148 CAD specific SNPs revealed significant association of 18 SNPs. The risk score analysis based on 18 SNPs and the ROC curve yielded an AUC of 0.822 suggesting substantial power of these SNPs to serve as predictive markers for CAD. Comparative analysis revealed certain SNPs belonging to APOA4-APOC3, APOA5-APOA4, BUD13, ZPR1, LPA and SMEK1 genes were associated significantly with the three phenotypic categories of CAD. The current study identified a unique set of SNPs to be associated with CAD and also portrays the distinct patterns of association of certain SNPs with the three major phenotypic sub categories of CAD in the population of Hyderabad.

Prevalence of obstructive sleep apnea among Southern Indian pregnant women attending antenatal care

Background: Physiological and hormonal changes during pregnancy can alter the sleep patterns of the pregnant women and were said to be precursor for the development of obstructive sleep apnea (OSA) and complication of pre-existing OSA. Developing country like India has no health cost distribution for the treatment, as this condition’s treatment trends absorbs 65–82% of all health cost. There is oblivious state among clinicians and patients, self-reporting of the symptoms are poor which, in turn, results to upshot underdiagnoses of OSA among southern Indian population. Aims and Objectives: The aim of the study is to screen the prevalence of OSA among the southern Indian pregnant women attending antenatal care and to evaluate its predisposing factors. Materials and Methods: We enrolled 305 pregnant women according to our study selection criteria, attended antenatal care at ACS medical college and hospitals from Chennai. On face-to-face basis, berlin questionnaire screening was done. With a brief interview, sociodemographic details, medical records and laboratory parameters were obtained. To cluster the risk of OSA prevalence, percentage was estimated using frequency distribution. Chi-square analysis was done to obtain significant relationship between contributing factors and OSA symptoms. Statistical testing was done with SPSS software version 21. Results: Among 305 pregnant women, 31.8% (97) were shown to have high-risk OSA and 68.2% (208) low-risk OSA. Across the trimester, high-risk OSA were noted among 8.2% (25), 11.1% (34), and 15.4% (48) at first, second, and third trimester, respectively. Age, body mass index, occupation, neck circumference, multiple pregnancy, and presence of conditions such as gestational hypertension, chronic hypertension, adenoids, mallampatti grade, nasal congestion, and family history of OSA can be the predisposing factors which could influence the OSA symptoms. Conclusion: The future investigations should rely on the analysis of the fetal outcomes after proper diagnosis of OSA. Furthermore, independent predictive values of physical signs, history, risk factors, and mechanisms behind the progression of OSA should be studied well. Region and area specific difference of risk of OSA to identify disparities and to promote decentralization of sleep care could be done.

Morphometric Study of Humerus in Southern Indian Population

Anthropometry involves measurement of proportions of the human body such as muscles, adipose tissue and bone. The present study was aimed at determining the humeral lengths segments and comparing it with its entire length of humerus in southern part of Indian population. This can be helpful in approximating stature of individuals using typical regression equation. We also compared the data obtained with previous studies conducted on various people in the world, which are valuable both forensic and archaeological studies. One hundred and nineteen fully ossified dried and processed humerus bones (60 right, 59 left humerus) obtained from two medical colleges in Tamil Nadu state SRM medical college, hospital and research centre and Sri Ramachandra Medical College. The morphometric detail of the parts of humerus were measured using digital Vanier caliper. The 6 segments’ length precisely, from utmost proximal point of the head of humerus to the utmost distal point of the circumference of the head as section 1 (Sa-Sb), from the distal point of the circumference of the head to the convergence of two areas of muscle attachment as section 2 (Sb-Sc), and from the convergence of two areas of muscle attachment to the deltoid tuberosity as section 3(Hc-Hd), from deltoid tuberosity to upper margin of olecranon fossa as section 4(Sd-Se), From upper margin of olecranon fossa to the lower margin of the fossa as section 5 (Se-Sf), and from the lower margin of olecranon fossa to most distal point of trochlea as section 6 (Sf-Sg) and maximum length of humerus were measured to the nearest millimeter. The values obtained for the distance of each sections were 35.22±3.939mm, 44.53±5.025mm, 66.27±6.805mm, 125.54±11.429mm, 20.51±1.726mm, and 18.51±1.633mm respectively on the left side, making a total of 310.5763±23.257mm. The values obtained on the right distance segments are as fellow 34.48±3.223mm, 47.05±6.31mm, 67.10±6.942mm, 125.54±11.429mm, 20.51±1.726mm and 17.90±2.447mm respectively on the right side, making a total 311.767±23.435mm. In conclusion present study shows that there is no significant difference obtained for the morphometric measurements between left and right segments except in segment 2.

Model of Anti-Mullerian Hormone Over Age to Predict Menopause in Polycystic Ovary Syndrome and Eumenorrheic Women: A Study on Southern Indian Population.

Introduction Anti-mullerian hormone (AMH) is a member of the transforming growth factor β family and is a marker of ovarian reserve; it is produced by the granulosa cells of developing preantral and early antral ovarian follicles. AMH concentration decreases with increasing age. Its concentration is increased relatively in those with polycystic ovary syndrome (PCOS) than eumenorrheic women. Objectives In this research, using a model of AMH over age, the age of menopause is predicted in PCOS and eumenorrheic women. Study design The study subjects were classified into two groups. Group 1 included PCOS subjects. Group 2 included eumenorrheic women. General profiles such as age, BMI, and hormonal parameters such as AMH were measured. Based on the exponential functional dependence of AMH over age, a model was proposed, and the value of exponential constants such as log βo and β1 were calculated using least square approximation. An arbitrary value of 0.2 ng/mL for AMH was taken as a cut-off value to predict the age of menopause in both groups. Outcome measures We predicted the age of menopause using a model of AMH over age by the least square approximation technique. Results The age prediction for menopause using the least squares model of AMH over age showed that in group 1 patients with PCOS, menopause is projected to occur at around 54.7 years, while in group 2 with eumenorrheic women, it is expected to happen at approximately 45.2 years. Conclusion Data demonstrates that serum AMH concentration declines over time, and predicting the age of menopause reflects sustained reproductive life span in PCOS subjects.

Clinical and Angiographic Profile in Non-ST Elevation Acute Coronary Syndrome (NSTE-ACS) and Chronic Stable Angina: A Tertiary Care Centre-Based Cohort Study From Southern Indian Population.

Purpose This study aimed to assess the clinico-demographic profile, risk factors, and pattern of coronary involvement in non-ST elevation acute coronary syndrome (NSTE-ACS) and chronic stable angina (CSA). Methods This was a retrospective study conducted in a tertiary care hospital catering mainly to the rural population in Southern India from January 2020 to July 2022. Data from 333 patients with NSTE-ACS and CSA were analyzed during the study period for the clinico-demographic profile, risk factors, and pattern of coronary involvement in angiography. Results The mean age at presentation was 56.05±9.31. Significant obstructive coronary artery disease was present in 234 (70.3%) patients. Overall, single, double, and triple vessel disease occurred in 26%, 20%, and 32.4% of patients with NSTE-ACS and chronic stable angina. Sixty percent of the diabetic and hypertensive patients (n=92/153) had multivessel involvement. Left main coronary artery disease was present in 40 patients (12%). Conclusion Unstable angina was the most common clinical presentation. Left anterior descending (LAD) was the most common coronary vessel to be involved with occurrence of triple vessel disease in 32% of the study population. Multivessel involvement was more common in the diabetic and hypertensive groups.

Radiological study of variations in intersphenoidal septum in a south Indian population- a retrospective cross-sectional study

Introduction and Aim: The anatomical variations in intersphenoidal septum (ISS) will affect the ease of surgery and risk of intraoperative injury to neurovascular structures. It is very important to assess the same in different populations using preoperative imaging. Hence the objective of this study is to determine the prevalence of anatomical variations of intersphenoidal septum and its pattern of attachment among Southern Indian population for better planning of surgery and avoid complications.
 
 Materials and Methods: A retrospective cross-sectional analysis of patients who underwent computed tomography paranasal sinus at a tertiary care hospital was done. Data from 186 cases in total were used in this study. The proportion of cases with intersphenoidal septa was the primary outcome evaluated, and the number, location, development, and point of termination of intersphenoidal septa were the secondary outcomes. Statistical software for social studies was used to analyse the data.
 
 Results: Absence of intersphenoidal septum was noted in 0.5% of cases with predominant sellar type of pneumatization. Also, single intersphenoidal septum (81.6%), right sided deviation of septum (48.1%), complete formation of intersphenoidal septum (92.4%) and protrusion of septum towards optic nerve canal (45.9%) were the common findings noted in this study.
 
 Conclusion: Anatomical variations of the intersphenoidal septum clearly signify that the surgeons should keenly note the variations before planning the surgery.

LAPAROSCOPIC VERSUS ROBOTIC RESECTION WITHOUT SPLENIC FLEXURE MOBILIZATION FOR RECTAL CANCER: A SINGLE-INSTITUTION EVALUATION OF OUTCOMES.

Background Splenic flexure mobilization has been considered the standard of practice in cases of low anterior resection;however,it has been observed in southern Indian state population, splenic flexure mobilization is may not be necessary for all patients of Dravidian ethnicity. Methods We evaluated the 26 patientswho underwent Laparoscopic Reconstituting Subtotal cholecystectomy during July 2019 to Jan 2022. Preoperative parameters (Age, Gender, diagnosis,location of tumor and Neoadjuvant therapy) and postoperative parameters (Duration of surgery,Hospital Stay, complications, recurrence of malignancy) were compared.Aim of the study was to evaluate the outcome of Low anterior rection without splenic flexure mobilization. Results There was no statistically significant difference in terms of intraoperative,postoperative complications and oncological outcome when splenic flexure mobilization not done.The operative time was similar in the both groups (P>0.05).The Postop complication rate was lower after robotic than after laparoscopic (9% vs. 25.5%, P=0.07). Post operative complications observed in 6 patients (23%) including wound infection, wound dehiscence, anastomotic leak and anastomotic stricture. 5 post op complications were seen in laparoscopic cases;however,this was not statistically significant.On a median 24 month follow-up,the local recurrence rates did not differ significantly between the 2 groups (5 for LAP vs. 1 for Robotic). Conclusion Resection of rectal cancers by minimally invasive approach (Lap and Robotic) without the routine use of SFM do not increase postoperative morbidity or oncologic risk in our subset of patients all of whom belong to the same Dravidian ethnicity. Compared to robotic surgery, patients with laparoscopic surgery had more postoperative complications though the oncologic clearance was comparatively similar.Hence,we suggest that Splenic flexure mobilization need not be done for patients of Dravidian ethnicity as they possess small to medium stature, genetically. This needs to be validated by larger randomized studies.

Estimation of Lipid Profile, Hepatic Enzymes, Malondialdehyde, and Uric Acid in Preeclampsia: Implications for Early Intervention

Introduction: Preeclampsia, a serious pregnancy complication, poses significant risks to both maternal and foetal health, potentially leading to morbidity and mortality. This condition is characterised by changes in lipid profiles, hepatic enzymes, Malondialdehyde (MDA), and uric acid levels. Despite significant medical advancements, identifying precise biomarkers for preeclampsia remains complex. Moreover, there is a lack of epidemiological research on preeclampsia within the southern Indian population. Aim: To estimate the levels of serum lipid profiles, hepatic enzyme levels, MDA, and uric acid levels in pregnant women with preeclampsia. Also, to examine the association between MDA and uric acid levels among women with preeclampsia and those with normal pregnancies. Materials and Methods: This cross-sectional study included 162 pregnant patients aged between 18 and 35 years, who attended the Outpatient Department (OPD) or were admitted to a tertiary care hospital in Visakhapatnam, Andhra Pradesh, India between February 2021 and October 2021. The participants were divided into three groups: Group A (54 normotensive pregnant women), Group B (54 pregnant women with non severe preeclampsia), and Group C (54 pregnant women with severe preeclampsia). Lipid profiles, hepatic enzymes, MDA, and uric acid were evaluated in all subjects, and their relationship with preeclampsia severity was assessed. The data were statistically analysed using one-way Analysis of Variance (ANOVA) followed by the Tukey post-hoc test. Results: The study groups (A, B, and C) had comparable age and gestational periods. However, significant variations were observed in lipid profiles, hepatic enzymes, MDA, and uric acid levels among them, which associated with the severity of preeclampsia. Increasing severity was associated with higher cholesterol and triglyceride levels, as well as a decrease in High Density Lipoprotein (HDL) cholesterol. Furthermore, disease progression led to significant elevations in Alkaline Phosphatase (ALP) , uric acid, and MDA levels. In particular, Group A displayed total cholesterol levels of 138.3±20.32 mg/dL, triglycerides of 109.98±15.22 mg/dL, and a negative association with HDLcholesterol at 30.57±3.65 mg/dL. In contrast, Group C exhibited considerably higher levels of total cholesterol, triglycerides, AST, ALT, uric acid, and MDA compared to Group A. Conclusion: As preeclampsia worsens, cholesterol and triglyceride levels increase, while HDL-cholesterol decreases, indicating a deteriorating metabolic profile. Additionally, ALP, uric acid, and MDA levels rise, indicating increased oxidative stress and liver function impact with the progression of the ailment.

Role of C-reactive Protein and Mean Platelet Volume in Predicting COPD Severity and its Association with Cardiac Abnormalities among the Southern Indian Population: A Cross-sectional Study

Introduction: Chronic Obstructive Pulmonary Disease (COPD) is one of the leading causes of disease and mortality worldwide. In individuals with mild-to-moderate COPD, serum C-reactive Protein (CRP) corresponds with disease severity and poor health outcomes. Mean Platelet Volume (MPV) is also linked to an elevated degree of inflammation in the body, as well as the severity and acute exacerbation of COPD. Aim: To evaluate the relationship between serum CRP levels and MPV and its association with COPD disease severity and the patient’s cardiac abnormality. Materials and Methods: A cross-sectional study was conducted in the Department of Respiratory Medicine, Chettinad Hospital and Research Institute, Chennai, Tamil Nadu, India, between January 2015 and January 2016. Study was carried out among 55 patients who were diagnosed with COPD in accordance with Global Initiative for Chronic Obstructive Lung Disease 2014 (GOLD) and who were within the age range of 40-70 years were included in the investigation. Severity of airflow obstruction was confirmed by Spirometry using True Flow Easy on PC sensor Pulmonary Function Test (PFT) machine with bronchodilator reversibility testing, as per Global Initiative for Chronic Obstructive Lung Disease (GOLD) guidelines 2014 and abnormality was evaluated by clinical and radiological assessment. A 3 mL of blood was collected into a clot vial and sent for analysis of CRP using an immunoassay system based on antigen-antibody reaction and fluorescence technology and MPV using the impedance count technique. Receiver Operating Characteristic (ROC) curve was used to find out the sensitivity and specificity of MPV and CRP levels with cardiac abnormality. The study was statistically analysed by Pearson’s Chi-square test. Results: Out of total sample, majority (n=25, 45.5%) were between 51-60 years age group and, there were 35 (63.63%) males and 20 (36.37%) females. The mean CRP levels of mild COPD patients were found to be 6.980±0.7328 mg/dL, moderate and severe COPD patients were found to be 7.243±0.5324 mg/ dL and 7.550±0.4950 mg/dL, respectively and it was statistically significant (p-value <0.0001). In the present study, the mean CRP levels and mean MPV were found to be significantly higher in patients with cardiac abnormality than the patients without cardiac abnormality (p-value <0.0001). Conclusion: Finally, it was concluded that systemic inflammation is common in COPD patients and that CRP and MPV are significant COPD biomarkers for assessing disease severity, predicting cardiac abnormalities, and predicting patient prognosis.

Clinico-epidemiological evaluation of chronic folliculitis of leg- A single study from southern India

This study was conducted to determine the clinico-epidemiological evaluation of chronic folliculitis of the leg in the southern Indian population. This was a prospective observational study, undertaken over a period of two years. All patients attending the outpatient department Southern Indian tertiary care hospital's Dermatology Department (M.K.C.G.Medical College & Hospital, Odisha) were recruited. A total of 100 patients were enrolled, aged between 12 to 70 years with a M: F ratio of 10.1: 1. Eighty per cent of the population in the study were rural, and 20% belonged to the urban area. Clinical characteristics and demographic data of the patients were collected in a pre-designed proforma. Those patients who had pustules on the leg underwent pus culture and sensitivity test. Majority of the patients presented with papules and pustules (96%cases) and bilateral symmetrical leg involvement (98% cases). Pruritus was the most common clinical presentation ( 90% cases). Staphylococcus was isolated in the majority of cases (80%) and was sensitive to Amikacin (73%), Linezolid (70%), vancomycin (68%), and Gentamycin (65%). Chronic folliculitis of the leg is mainly a disease of young adult males of low socioeconomic status. Avoiding aggravating factors and cautious use of sensitive antibiotics may achieve treatment goals and decrease recurrence.

Influence of Serum Levels of Vitamin D on Insulin Resistance in Patients with Type II Diabetes Mellitus

Background: Vitamin D plays an important role in bone and modulates mineral metabolism and immune function with probable link to several chronic and infectious conditions. In vivo studies have revealed that vitamin D deficiency reduces insulin secretion capacity of the islet beta cells in pancreas. Several studies have shown a correlation between vitamin D levels and insulin resistance, nonetheless, extensive studies showing the relationship between the two are lacking especially among southern Indian population. So the present study was aimed at evaluating the relationship between vitamin D and insulin resistance by using homeostatic model assessment-insulin resistance (HOMA-IR). Materials and methods: In a cross-sectional study, 184 people among which 92 were diabetic and 92 were nondiabetic were recruited at RL Jalappa Hospital, Kolar in the Department of Medicine between May 2018 and April 2019. Fasting serum insulin (I0), fasting plasma glucose (G0), hemoglobin A1c (HbA1C), renal function test, liver function test (LFT), lipid profile, and vitamin D levels were estimated. IBM SPSS version 22 was used for statistical analysis. Results: The prevalence of vitamin D deficiency in our study was (72) 78.2% among diabetic cases and (59) 64.1% among the nondiabetic controls, with the diabetic cases showing lower levels of vitamin D than the controls, however, it was not statistically significant. There was no significant difference in homeostatic model assessment-beta-cell function (HOMA-B) and HOMA-IR between vitamin D deficient and nondeficient groups among cases and controls. Conclusion: Vitamin D deficiency is prevalent in both type II diabetes mellitus (T2DM) as well as nondiabetic. Furthermore, there is no association between vitamin D deficiency and insulin resistance or beta-cell function.

Influence of Serum Levels of Vitamin D on Insulin Resistance in Patients with Type II Diabetes Mellitus.

Vitamin D plays an important role in bone and modulates mineral metabolism and immune function with probable link to several chronic and infectious conditions. In vivo studies have revealed that vitamin D deficiency reduces insulin secretion capacity of the islet beta cells in pancreas. Several studies have shown a correlation between vitamin D levels and insulin resistance, nonetheless, extensive studies showing the relationship between the two are lacking especially among southern Indian population. So the present study was aimed at evaluating the relationship between vitamin D and insulin resistance by using homeostatic model assessment-insulin resistance (HOMA-IR). In a cross-sectional study, 184 people among which 92 were diabetic and 92 were nondiabetic were recruited at RL Jalappa Hospital, Kolar in the Department of Medicine between May 2018 and April 2019. Fasting serum insulin (I0), fasting plasma glucose (G0), hemoglobin A1c (HbA1C), renal function test, liver function test (LFT), lipid profile, and vitamin D levels were estimated. IBM SPSS version 22 was used for statistical analysis. The prevalence of vitamin D deficiency in our study was (72) 78.2% among diabetic cases and (59) 64.1% among the nondiabetic controls, with the diabetic cases showing lower levels of vitamin D than the controls, however, it was not statistically significant. There was no significant difference in homeostatic model assessment-beta-cell function (HOMA-B) and HOMA-IR between vitamin D deficient and nondeficient groups among cases and controls. Vitamin D deficiency is prevalent in both type II diabetes mellitus (T2DM) as well as nondiabetic. Furthermore, there is no association between vitamin D deficiency and insulin resistance or beta-cell function.

Distribution of celiac disease predisposing genes HLA-DQ2 and HLA-DQ8 in the native population of southern India.

Celiac disease (CD) is an intestinal inflammatory condition caused by the ingestion of gluten peptides in wheat and related grains in individuals carrying HLA-DQ2 and/or HLA-DQ8 genes. In comparison to HLA-DQ8, a higher HLA-DQ2 prevalence is reported in European population where wheat has been the staple food for thousands of years. In non-European population, this pattern of HLA-DQ CD-predisposing gene distribution has not always been found. The aim of this study was to evaluate the HLA-DQ2 and HLA-DQ8 distribution in the native low-gluten consuming southern Indian population. Overall, 211 dried blood spots (DBS) were collected from native southern Indian individuals. HLA-DQ characterization and the determination of homozygous/heterozygous status were performed using commercially availableHLA-DQ typing kits. Of 211 collected DBS, 88 (42%, 95% CI: 36-48) were positive for HLA-DQ2 and/or HLA-DQ8 heterodimers. Overall, 40 (19%, 95% CI: 14-24) samples typed positive for HLA-DQ2 and 48 (23%, 95% CI: 18-28) typed positive for HLA-DQ8 genotypes. Of 40 HLA-DQ2-positive individuals, only one subject tested homozygous for the DQB1*02 allele. In the southern Indian native general population, the prevalence of HLA-DQ8 is higher in comparison to HLA-DQ2 prevalence. This finding could be related to the delayed introduction of wheat in the diet of the southern Indian population.

Eye donation: awareness, knowledge and willingness among general public in Southern Indian population

Background: Aim of the study was to assess the awareness, knowledge and willingness to donate eyes among general public in southern Indian states of Andhra Pradesh and Telangana.Methods: A cross sectional population-based survey used a semi structured questionnaire on awareness, knowledge and willingness for eye donation. Stratified multistage cluster random sampling method was used with a sample size of 867 adults >16 years based on, estimated awareness of cataract 70%, assuming an expected rate of 85%, design effect of 1.5, margin of error 4% with 95% confidence interval with 25% from urban areas and 75% from rural areas. Having heard of eye donation was defined as awareness and having knowledge of the ideal time to donate the eyes was considered as knowledge. A pilot study was conducted to validate the questions used in the main study. Statistical package SPSS (version 19) was used for analysis to calculate logistic regression and odds ratios for gender, age, education and urban-rural areas.Results: A total of 782/867 (90.1%) subjects participated in the survey with females 47.4%. 603 subjects (77.1%) were aware of eye donation. 301 subjects (38.5%) were willing to donate eyes. The 297 subjects (49.3%) were aware of the ideal time for donation after death.Conclusions: Awareness of eye donation was high among the general public but the willingness to donate eyes was poor. There is a need to identify barriers for eye donation to increase the voluntary donation of the eyes to combat corneal blindness.

Analysis of 61 SNPs from the CAD specific genomic loci reveals unique set of SNPs as significant markers in the Southern Indian population of Hyderabad

BackgroundThe present study is a part of the major project on coronary artery disease (CAD) carried out at Indian Statistical Institute, Hyderabad to investigate the pattern of association of SNPs selected from the CAD specific genomic loci. The study is expected to portray the genetic susceptibility profile of CAD specifically in the Southern Indian population of Hyderabad.MethodsThe study was conducted in a cohort of 830 subjects comprising 350 CAD cases and 480 controls from Hyderabad. A prioritized set of 61 SNPs selected from the NHGRI GWAS catalogue were genotyped using FluidigmNanofluidic SNP Genotyping System and appropriate statistical analyses were used in interpreting the results.ResultsAfter data pruning, out of 45 SNPs qualified for the association analysis, four SNPs were found to be highly significantly associated with increased risk for CAD even after Bonferroni correction for multiple testing (p < 0.001). These results were also replicated in the random subsets of the pooled cohort (70, 50 and 30%) suggesting internal consistency. The ROC analysis of the risk scores of the significant SNPs suggested highly significant area under curve (AUC = 0.749; p < 0.0001) implying predictive utility of these risk variants.ConclusionsThe rs10455872 of LP(A) gene in particular showed profound risk for CAD (OR 35.9; CI 16.7–77.2) in this regional Indian population. The other significant SNP associations observed with respect to the pooled CAD cohort and in different anatomical and phenotypic severity categories reflected on the role of genetic heterogeneity in the clinical heterogeneity of CAD. The SNP rs7582720 of WDR12 gene, albeit not individually associated with CAD, was found to be conferring significant risk through epistatic interaction with two SNPs (rs6589566, rs1263163 in ZPR1, APOA5-APOA4 genes) of the 11q23.3 region.

The genetic susceptibility profile of type 2 diabetes and reflection of its possible role related to reproductive dysfunctions in the southern Indian population of Hyderabad

BackgroundThe genetic association studies of type 2 diabetes mellitus (T2DM) hitherto undertaken among the Indian populations are grossly inadequate representation of the ethnic and geographic heterogeneity of the country. In view of this and due to the inconsistent nature of the results of genetic association studies, it would be prudent to undertake large scale studies in different regions of India considering wide spectrum of variants from the relevant pathophysiological pathways. Given the reproductive dysfunctions associated with T2DM, it would be also interesting to explore if some of the reproductive pathway genes are associated with T2DM. The present study is an attempt to examine these aspects in the southern Indian population of Hyderabad.MethodsA prioritized panel of 92 SNPs from a large number of metabolic and reproductive pathway genes was genotyped on 500 cases and 500 controls, matched for ethnicity, age and BMI, using AGENA MassARRAYiPLEX™ platform.ResultsThe allelic association results suggested 14 SNPs to be significantly associated with T2DM at P ≤ 0.05 and seven of those—rs2241766-G (ADIPOQ), rs6494730-T (FEM1B), rs1799817-A and rs2059806-T (INSR), rs11745088-C (FST), rs9939609-A and rs9940128-A (FTO)—remained highly significant even after correction for multiple testing. A great majority of the significant SNPs were risk in nature. The ROC analysis of the risk scores of the significant SNPs yielded an area under curve of 0.787, suggesting substantial power of our study to confer these genetic variants as predictors of risk for T2DM.ConclusionsThe associated SNPs of this study are known to be specifically related to insulin signaling, fatty acid metabolism and reproductive pathway genes and possibly suggesting the role of overlapping phenotypic features of insulin resistance, obesity and reproductive dysfunctions inherent in the development of diabetes. Large scale studies involving gender specific approach may be required in order to identify the precise nature of population and gender specific risk profiles for different populations, which might be somewhat distinct.

Foetal Nasal Bone Length Measurement and Evolving Normogram in Southern Indian Population in Normal Pregnancies: A Cross-sectional Study

Introduction: Assessment of the foetus to detect aneuploidies between 12 to 24 weeks of gestation is an integral part of the ultrasound scanning. Absence or hypoplastic nasal bone is a very important marker of foetal aneuploidy. Thus, identifying the range of foetal Nasal Bone Length (NBL) in normal gestation is very important to screen for aneuploidies. Aim: This study aimed at ascertaining the reference range of foetal NBL between 11 to 24 weeks of pregnancy. Materials and Methods: A multicentre, cross-sectional study was conducted from 2018 to 2020. After obtaining Ethical approvals from each centre, NBL was measured in 826 patients between 11-24 weeks of pregnancy. Transabdominal scans were performed and the data was used to construct the NBL normogram for this Gestational Age (GA). Linear regression analysis was used to analyse the relationship between NBL and Gestational Age. Scatter plots for NBL as function of GA was constructed. The 5th and 50th percentile values were calculated for each gestational week. Results: With one unit increase in GA (weeks), NBL increased by 0.402 times (r=0.897, p&lt;0.001). Mean NBL was 4.05 mm. The medians NBL for 12-14 weeks were 2.1-2.5 mm, 15-18 weeks was 3.0-4.6 mm, 19-21 weeks was 5.3-5.8 mm, 22-24 weeks was 6.0-6.6 mm. Conclusion: This study highlights the importance of nasal bone evaluation in the second trimester of pregnancy to detect foetuses with Down syndrome. Since NBL increases linearly with GA, it aids detecting the hypoplastic nasal bone at different GA.

Morphological Variation of Suprascapular Notch in Population of Eastern India and its Clinical Significance

Introduction: Suprascapular notch is present at the lateral part of the superior border of scapula which is bridged by superior transverse scapular ligament. The suprascapular nerve runs below the ligament and the transverse scapular vessels over it. The ligament sometimes becomes ossified and impinges the underlying nerve which causes paralysis of both supraspinatus and infraspinatus muscles. Aim: To study the morphological variation of suprascapular notches in dry human scapulae. Materials and Methods: This observational cross-sectional study was carried out on 102 adult dry human scapulae (62 right, 40 left) collected from the 1st year MBBS students of different Medical colleges of West Bengal from August 2020 to March 2021. The shapes of suprascapular notch, presence of ossified ligaments were observed. Superior Transverse Diameter (STD), Middle Transverse Diameter (MTD), Maximum Depth (MD) of the suprascapular notch, distance from the deepest point of suprascapular notch to supraglenoid tubercle and distance between the spinoglenoid notch to the posterior rim of glenoid cavity were measured and statistically analysed. Classification of the suprascapular notch was done based on Rengachary classification. Results: Type III notch was most common (n=52). One scapula had small U-shaped notch with lateral part of the ligament ossified and another had U-shaped notch with both medial and lateral part of the ligament ossified but they failed to join. In Type I and Type VI there were no such diameters like STD or MTD but for other types STD was more than MTD. The distance between suprascapular notch and supraglenoid tubercle was variable- type VI had minimum and type I had the maximum distance. The distance between the medial wall of the spinoglenoid notch and the posterior rim of glenoid cavity was least in type I and highest in type III. Conclusion: This study showed that type III was the most common suprascapular notch. The present study also compared the findings with other previous studies and found that percentage of presence of suprascapular foramen in this eastern Indian population was higher than southern Indian population.