Ketan Kumar

and 4 more

Objective The objectives of this study were to determine the prevalence of insulin resistance (IR), dyslipidemia and metabolic syndrome (MS) in children with asthma, aged 10 to 15 years and to determine if these metabolic abnormalities showed an association with asthma symptom control and lung function. Methods We conducted a cross-sectional study at a tertiary centre in north India. Consecutive children with physician diagnosed asthma were enrolled. Asthma symptom control over previous four weeks was assessed as per GINA recommendations. Fasting plasma glucose, serum insulin and lipid levels were estimated. HOMA-IR was used as a marker of IR. Spirometry was performed for assessing lung function. Results Eighty-three children were enrolled. Median (IQR) age was 12.0 (11.0, 13.5) years and mean (SD) BMI z score was -0.42 (1.0). Median (IQR) Homeostasis Model Assessment- Insulin Resistance (HOMA-IR) was 1.65 (1.06, 2.39). Prevalence of IR was 42.3% (95% CI: 31.7-52.9%). Number of children with elevated triglycerides, total cholesterol, and LDL-cholesterol was 4 (4.8%), 4 (4.8%) and 5 (6%), respectively. 67 (80.7%) children had low HDL-cholesterol. Only one subject was found to have MS. Presence of IR and elevation in serum insulin and triglycerides were associated with poorer asthma control, independent of BMI. None of the metabolic parameters were associated with lung function, after adjusting for height. Conclusions A high proportion of children with asthma aged 10-15 years had IR but not MS currently. Increasing serum insulin, triglycerides, and presence of IR were associated with poorer asthma control, after adjusting for BMI.

Ankita Narang

and 21 more

Purpose:There have been concerted efforts towards cataloging rare and deleterious variants in different world population using high throughput genotyping and sequencing based methods. The Indian populations are underrepresented or its information w.r.t. clinically relevant variants are sparse in public datasets. The aim of this study was to estimate the burden of monogenic disease causing variants in Indian populations. Towards this, we have assessed the frequency profile of monogenic phenotype associated ClinVar variants. Methods: The study utilized genotype dataset (global-screening-array, Illumina) from 2795 individuals (multiple in-house genomics cohorts) representing diverse ethnic and geographically distinct Indian populations. Results: Of the analyzed variants from GSA, ~12% were found to be informative and were either not known earlier or underrepresented in public databases in terms of their frequencies. These variants were linked to disorders, viz. Inborn-errors of Metabolism, Monogenic-diabetes, hereditary cancers and various other hereditary conditions. We have also shown that our study cohort is genetically better representatives of Indian populations than its representation in1000 genome project (South-Asians). Conclusion: We have created a database, ClinIndb [(http://clinindb.igib.res.in) and (https://databases.lovd.nl/shared/variants?search_owned_by_=%3D%22Mohamed%20Faruq%22)], to help clinicians and researchers in diagnosis, counseling and development of appropriate genetic screening tools relevant to the Indian populations and Indians living abroad.