"Embracing a Borrowed Life": A Narrative Analysis of Post-Transplantation Experiences among Indian Kidney Recipients.

This study systematically examined the multifaceted dimensions of the posttransplantation experiences of Indian kidney recipients through a meticulous narrative analysis of clinical interview data sourced from 111 male and 28 female recipients. The mean age of recipients was 39.63 ± 11.

From teeth to ethnicity: A neural network approach to predicting population of origin through dental traits and anomalies.

Background: This study aimed to investigate the prevalence of dental traits and anomalies in five North Indian populations (Khas Bodhi, Jaat, Khatri, Garhwali, and Gujjar) and predict the population of origin based on these traits and anomalies for forensic applications.

Methods: We assessed dental traits and anomalies in 454 individuals through intraoral examination. Neural network analysis was employed to predict the population of origin based on a combination of dental traits and anomalies.

Association of Low Birth Weight with the Risk of Childhood Stunting in Low- and Middle-Income Countries: A Systematic Review and Meta-Analysis.

Background: Stunting is an important predictor of growth and development of children under 5 years of age, and it remains the significant problem in LMIC. However, LBW emerges as risk factor, but its association with LMIC needs attention.

Objective: This systematic review and meta-analysis aimed to investigate the association of low birth weight with the risk of childhood stunting among the age group of 0-5 years in LMICs.

Donor-Derived Cell-Free DNA as a Non-Invasive Biomarker for Graft Rejection in Kidney Transplant Recipients: A Prospective Study among the Indian Population.

Monitoring graft health and detecting graft rejection is crucial for the success of post-transplantation outcomes. In Western countries, the use of donor-derived cell-free DNA (dd-cfDNA) has gained widespread recognition as a diagnostic tool for kidney transplant recipients. However, the role of dd-cfDNA among the Indian population remains unexplored.

Genetic associations of TMEM154, PRC1 and ZFAND6 loci with type 2 diabetes in an endogamous business community of North India.

Background: More than 250 loci have been identified by genome-wide scans for type 2 diabetes in different populations. South Asians have a very different manifestation of the diseases and hence role of these loci need to be investigated among Indians with huge burden of cardio-metabolic disorders. Thus the present study aims to validate the recently identified GWAS loci in an endogamous caste population in North India.

Women infertility and common mental disorders: A cross-sectional study from North India.

Background: Infertility is a very distressing condition. It is often associated with long-term stress, which can emerge as anxiety and depression.

Aim: To understand the effect of socio-demographic variables, reproductive trajectories, and lifestyle variables on stress, depression, and anxiety independently and to understand the relationship of psychological variables with each other among infertile and fertile women.

MTR, MTRR and CBS Gene Polymorphisms in Recurrent Miscarriages: A Case Control Study from North India.

Background: According to various epidemiological studies, the aetiology of recurrent miscarriages (RMs) is multifactorial. The goal of this study is to learn more about the link between genetic polymorphisms and RM.

Aim: To evaluate the association of 5-Methytetrahydrofolate-Homocysteine Methyltransferase (MTR) A2756G, 5-Methytetrahydrofolate-Homocysteine Methyltransferase Reductase (MTRR) A66G and cystathionine beta-synthase (CBS) 844INS68 genetic polymorphisms with RM and also to understand the combined effect of the selected genotypes.

Genomics of body fat distribution.

Central obesity and body fat distribution measured by waist circumference (WC) and waist hip ratio (WHR) are good predictors of cardio metabolic adversities independent of overall adiposity. There are substantial evidence that body fat distribution is controlled by genetic factors. Even after accounting for body mass index (BMI), individual variation in body fat distribution is heritable, with estimates ranging from 31-76%.

Maternal one carbon metabolism and interleukin-10 &-17 synergistically influence the mode of delivery in women with Early Onset Pre-Eclampsia.

Objective: Studies on One Carbon Metabolism (OCM), Interleukins-10 &-17 (IL-10/-17) & βhCG in pre-eclampsia and its delivery outcome (preterm birth) reveal contradictory results, attributed to clinical heterogeneity (early/late onset pre-eclampsia) or preterm/term birth. Disturbed OCM also influences IL-10 &-17 during pregnancy. We sought to investigate the synergism between OCM and IL-10/-17 mediated immune-regulation through βhCG in Early onset pre-eclampsia (EO-PE) patients, delivering preterm, among North Indian women.

Genetic underpinnings of lung function and COPD.

Spirometry based measurement of lung function is a global initiative for chronic obstructive lung disease (GOLD) standard to diagnose chronic obstructive pulmonary disease (COPD), one of the leading causes of mortality worldwide. The environmental and behavioural risk factors for COPD includes tobacco smoking, air pollutants and biomass fuel exposure, which can induce one or more abnormal lung function patterns. While smoking remains the primary risk factor, only 15-20% smokers develop COPD, indicating that the genetic factors are also likely to play a role.

Prevalence of cardiovascular risk factors among tribal and non-tribal populations with East Asian Ancestry from North East India.

Objectives: The distribution of hypertension, type 2 diabetes, dyslipidemia, and obesity variables were studied among tribal and non-tribal populations with East Asian ancestry from northeast India.

Methods: Data pertaining to somatometric measurements, blood pressure, lipid profile, and fasting blood glucose were collected from 1916 participants (Mizo-422, Liangmai-352, and Meitei-1142) of both sexes older than 18 years. Two-way ANOVA and chi square analysis were done to understand the inter-population prevalence differences.

Gestational route to healthy birth (GaRBH): protocol for an Indian prospective cohort study.

Introduction: Pregnancy is characterised by a high rate of metabolic shifts from early to late phases of gestation in order to meet the raised physiological and metabolic needs. This change in levels of metabolites is influenced by gestational weight gain (GWG), which is an important characteristic of healthy pregnancy. Inadequate/excessive GWG has short-term and long-term implications on maternal and child health.

Genetics of obesity and its measures in India.

Obesity is one of the largest global health problems associated with increased morbidity and mortality mediated by its association with several other metabolic disorders. The interaction between the genes and environment plays an important role in the manifestation of obesity. Despite a high heritability (40-70%) of obesity, the search for genetic variants associated with obesity susceptibility has been a challenging task.

Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism among Gaddi tribe of Indian state of Himachal Pradesh.

Background: Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism has been suggested to be positively associated with several disorders. Distribution of the mutant T-allele varies in ethnic and geographical populations of the world.

Aim: The aim of the present study was to investigate the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in a transhumant (Gaddi) tribal population of Himachal Pradesh dwelling at high and middle altitude and exposed to strong ultraviolet radiation.

MTHFR C677T polymorphism, folate, vitamin B12 and homocysteine in recurrent pregnancy losses: a case control study among North Indian women.

Aim: The present study attempts to understand the role of methylenetetrahydrofolate reductase C677T (MTHFR C677T) in recurrent pregnancy losses in North Indian women because of hyperhomocysteinemia in light of serum folate and vitamin B₁₂.

Methods: One hundred and seven women with three or more consecutive unexplained recurrent pregnancy losses and 343 women with two or more successful and uncomplicated pregnancies were recruited. Plasma homocysteine, serum folate and vitamin B₁₂ were analyzed using chemiluminescence.

Dopamine D2 receptor and ankyrin repeat and kinase domain containing 1 genes among the two linguistically distinct tribal populations of Ranchi district, Jharkhand, India.

In the recent years, haplotype studies have emerged as a critical tool for studying the human migratory patterns. Dopamine D2 receptor (DRD2) and Ankyrin Repeat and Kinase Domain Containing 1 (ANKK1) genes, which also bear specific clinical implications in various neuropsychiatric and behavioural/addictive disorders, are significant nuclear DNA markers for studying human genome diversity. The present study was conducted in order to understand the distribution pattern of the three DRD2 and ANKK1 TaqI sites and also the frequencies of their haplotypes among Oraons (n = 48) and Mundas (n = 50)--the two linguistically distinct tribal population groups of Jharkhand.

Genetic thromobophilia in pregnancy: a case-control study among North Indian women.

In the present study, an attempt is made to understand the role of genetic thrombophilias i.e. MTHFR C677T and FVL in the causation of various pregnancy complications like pregnancy induced hypertension (PIH), recurrent abortions, intra-uterine growth retardation (IUGR) and intra-uterine death on the whole and also individually along with the comparative assessment of pathophysiological basis of various pregnancy complications via the genetic proximities.

Association of TCF7L2 and ADIPOQ with body mass index, waist-hip ratio, and systolic blood pressure in an endogamous ethnic group of India.

Despite the increasing burden of type 2 diabetes (T2D) and its established association with anthropometric and physiological traits as a risk factor, genetic studies focusing on the association of T2D-related genes with quantitative traits like body mass index (BMI), waist-hip ratio (WHR), and systolic blood pressure (SBP) are only a few for western populations and rare for Indian populations. The present study tested the association of TCF7L2, HHEX, KCNJ11, and ADIPOQ with BMI, SBP, and WHR in men and women of the Aggarwal population of India and found a differential association of TCF7L2 (rs7903146, rs4506565, and rs12256372) and ADIPOQ (rs2241766 and rs1501299) genes with increasing BMI, SBP, and WHR between the two sexes. We conclude that TCF7L2 and ADIPOQ together might play an important role in explaining these traits and to understand the biological and genetic mechanisms underlying T2D, and the role of other T2D genes must also be evaluated with these continuous traits.

Haptoglobin polymorphism among fourteen populations of India.

Haptoglobin (HP) is a serum protein that has the capability of binding the extracorpuscular haemoglobin released during haemolysis. It plays an important role in protection of haemolytic disease by reducing the oxidative and peroxidative potential at free haemoglobin. The present study was aimed to determine the prevalence of HP polymorphism among different Indian populations, anthropologically belonging to diverse ethnicity.

Spectrum of MTHFR gene SNPs C677T and A1298C: a study among 23 population groups of India.

Elevated homocysteine is a risk factor for many complex disorders. The role of methylenetetrahydrofolate reductase (MTHFR) gene in methylation of homocysteine makes it one of the most important candidate genes for these disorders. Considering the heterogeneity in its distribution in world populations, we screened MTHFR C677T and A1298C single nucleotide polymorphisms in a total of 23 Indian caste, tribal and religious population groups from five geographical regions of India and belonging to four major linguistic groups.

The genomic similarities with linguistic difference: a study among the Oraon and Munda tribes of the Ranchi district, Jharkhand, India.

Aims: The present study was conducted on two tribal communities, the Oraon and Munda, inhabiting the Ranchi district of Jharkhand state, India. The study was designed to elucidate genetic similarity, if any, shared between these tribes as they belong to the common Proto-Australoid stock but bear different linguistic affiliations. For this, a total of 98 intravenous blood samples (48 Oraon and 50 Munda) were collected from unrelated individuals of either sex up to first cousins, with their prior informed written consent.

A genomic insight into the peopling of Manipur, India.

Introduction: manipur, one of the northeastern states of India, lies on the ancient silk route and serves as a meeting point between the Southeast Asia and South Asia.

Aims: this study was conducted to understand and estimate the genomic diversity among various population groups of Manipur, with a major goal of getting an insight into the peopling of India.

Methods: seven human-specific Alu insertion/deletion polymorphisms were screened on 366 individuals belonging to eight ethnic groups of Manipur, including both tribal (Aimol, Kabui, Kom, Paite, and Thadou) and nontribal populations (Bamon, Muslims, and Meitei).

Population structure of Aggarwals of north India as revealed by molecular markers.

Using molecular genetic data on Aggarwals (Vaish/Vysya), an endogamous population group of north India, we provide evidence of its homogeneous unstratified population structure. We found the mean average heterozygosity value of 0.33 for 14 single nucleotide polymorphisms belonging to four genes (TCF7L2-, HHEX-, KCNJ11-, and ADIPOQ-) in the Aggarwal population (sample of 184 individuals) and tried to evaluate the genomic efficiency of endogamy in this population with the help of clan-based stratified analysis.

Significance of genome-wide association studies in molecular anthropology.

The successful advent of a genome-wide approach in association studies raises the hopes of human geneticists for solving a genetic maze of complex traits especially the disorders. This approach, which is replete with the application of cutting-edge technology and supported by big science projects (like Human Genome Project; and even more importantly the International HapMap Project) and various important databases (SNP database, CNV database, etc.), has had unprecedented success in rapidly uncovering many of the genetic determinants of complex disorders.

Haplotype diversity and linkage disequilibrium at DRD2 locus--a study on four population groups of Andhra Pradesh, India.

Dopamine receptor D2 (DRD2) is expressed in the central nervous system and has a high affinity for many antipsychotic drugs. Besides several epidemiological investigations on association of DRD2 locus polymorphism(s) with neuropsychiatric problems and addictive behavior, a few polymorphisms in this locus have also been used to understand genomic diversity and population migratory histories globally. The present study attempts to understand the genomic diversity/affinity among four endogamous groups of Andhra Pradesh (India) against the backdrop of diversity studies from other parts of India and the rest of the world, with special reference to DRD2 locus.