ACE Gene I/D Polymorphism and Cardiometabolic Risk Factors: A Cross Sectional Study of Rural Population.

The D allele has been identified as being linked to cardiovascular disease since the discovery of an insertion/deletion (I/D) polymorphism in the ACE gene, this polymorphism has been found to have significant associations with a variety of cardiovascular risk factors. Recent findings indicate a rising prevalence of metabolic disorders among rural populations in developing nations. Research on health matters has been predominantly focused on urban populations, with relatively less attention given to their rural counterparts Hence, the present study attempts to estimate the prevalence of ACE gene I/D polymorphism and explore its association with various cardiovascular risk factors among Rural Yadav population from India. In the present study, 207 (Male 47, Female 160) members of the Yadav community participated in the cross-sectional study. All the socio-demographic factors, somatometric (anthropometric) variables, and the intravenous blood was collected and Physiological (blood pressure), and biochemical (fasting glucose and lipid profile) parameters were measured as recommended by the American Heart Association, allele-specific PCR of the ACE gene I/D polymorphism was carried out, the PCR products were genotyped on 2% agarose gel Electrophoresis and ACE gene polymorphism was analysed for its association with various cardiovascular risk factors. Among the analysed individuals, 34 (16.4%) were found to have the II genotype, 58 (28.0%) had the ID genotype, and 115 (55.6%) had the DD genotype. The allele frequency of the I allele was found to be 0.31, and the frequency of the D allele was 0.69. The frequency of the DD genotype was found to be significantly higher among individuals with high TC, high TG, and low non-HDL levels (p value < 0.05). When considered collectively, the findings of this study are consistent with the hypothesis that the DD genotype of ACE polymorphism represents a correlation with cardiovascular disease risk factors in this population.

Association of ACE I/D gene polymorphism and related risk factors in impaired fasting glucose and type 2 diabetes: a study among two tribal populations of North-East India.

BACKGROUND: Type 2 diabetes is a serious public health concern in India, even the indigenous tribal populations are not left unaffected. The present study aims to understand the association of major risk factors i.e. obesity, hypertension, dyslipidemia, ACE I/D polymorphism with impaired fasting glucose (IFG) and type 2 diabetes (T2D) among two different Mendelian populations of North East India. METHODS: Demographic, somatometric, physiological variables along with fasting blood samples were collected from 609 individuals. The participants were screened for ACE I/D polymorphism. RESULTS: ACE I/D polymorphism was found to follow HWE among Liangmai tribe but not among Mizo tribe. Distribution of DD genotype/D allele was found to be significantly higher for T2D among Mizo tribe. Significant association were observed between DD genotype/D allele of ACE I/D polymorphism and TC as well as LDL with both IFG and T2D only in Mizo tribe. CONCLUSIONS: The present study is an example of gene-environment interaction where DD genotype or D allele and dyslipidemia (high TC and high LDL) are posing risk for IFG and T2D both independently and in combination only among Mizo tribe with relatively less physical activity attributed to their residence in less hilly terrain however Liangmai tribe which resides in high hilly terrain shows no such association.

Obesity, dyslipidaemia and candidate gene polymorphisms: a cross-sectional study among the Liangmai and Mizo tribes of Manipur, India.

BACKGROUND: The prevalence of obesity and dyslipidaemia was observed to be increased among the tribal populations, due to globalization. MATERIALS AND METHODS: In the present study, data on demographic, somatometric and blood samples were collected from 613 participants of both sex, age 18-60 years, further lipid profiling and genotyping was executed. Multifactor dimensionality reduction (MDR) software was used for gene-gene interactions analysis. RESULTS: Significantly differences were observed with respect to the general characteristic and selected gene polymorphisms in both the tribes. Among the Liangmai tribe, MC4R gene was found to pose significant decreased risk for waist-height ratio (WHtR) (OR = 0.56; 95% confidence interval (CI)= 0.32-0.99; p value = .04) and HDL (OR = 0.58; 95% CI = 0.36-0.92; p value = .02). Similar trends of significant decreased risk (OR = 0.39; 95% CI = 0.20-0.76; p value=.006) for BMI were observed among the Mizo tribe. The gene-gene interaction revealed the combined model of FTO+MC4R genes shows an increased risk for BMI in both the tribes. The independent significant increased risk posed by FTO gene was moderated by interaction with MC4R gene. CONCLUSIONS: The observed differences can possibly attribute to both their respective ancestries resulting in different gene pools and the physical environment. The results of the study highlight the importance of gene-gene and gene-environment interactions in adverse phenotype groups.KEY MESSAGEAmong the tribal population, the prevalence of obesity and dyslipidaemia has been increased.Differential distribution and associations of selected markers hint towards differential genetic architecture in these populations.MC4R rs17782313 polymorphism was found to show a significantly decreased risk for WHtR and low HDL among the Liangmai tribe and BMI among the Mizo tribe.Significant increased risk posed by FTO rs9939609 gene polymorphism was moderated by the interaction with MC4R rs17782313.

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. RESULTS: Differential distribution of obesity variables, hypertension, type 2 diabetes, and dyslipidemia was observed among the three populations. CONCLUSIONS: Population-specific prevalence studies need to be conducted to develop population-specific health strategies, specifically in countries like India with huge diversity.

Prevalence of obesity in India: A systematic review.

Recent studies have reported that globally, more than 1.9 billion adults are overweight and 650 million are obese. Approximately 2.8 million deaths are reported as a result of being overweight or obese. Due to the consumption of energy dense food (i.e. unhealthy food habits), sedentary life style, lack of health care services and financial support, the developing countries are facing high risk of obesity and their adverse consequences (i.e. diabetes, ischemic heart disease, etc). In India, more than 135 million individuals were affected by obesity. The prevalence of obesity in India varies due to age, gender, geographical environment, socio-economic status, etc. According to ICMR-INDIAB study 2015, prevalence rate of obesity and central obesity are varies from 11.8% to 31.3% and 16.9%-36.3% respectively. In India, abdominal obesity is one of the major risk factors for cardiovascular disease (CVDs). Various studies have shown that the prevalence of obesity among women were significantly higher as compared to men. Obesity is one of the main medical and financial burdens for the government. This problem of obesity can be preventable by spreading public awareness about obesity and its health consequences. Governmental agencies should promote the benefits of healthy life style, food habits and physical activity. The aim of this article is to report the prevalence of obesity in different regions of India and highlight the problem areas.

Differential distribution and association of FTO rs9939609 gene polymorphism with obesity: A cross-sectional study among two tribal populations of India with East-Asian ancestry.

The fat mass and obesity associated (FTO) rs9939609 gene polymorphism is most widely studied in terms of obesity in various populations. Recently, the prevalence of obesity has been reported to be very high among the North-Eastern State of India. The major aim of the present study is to understand the extent of FTO rs9939609 gene polymorphism and its association with obesity among the two North-East Indian tribal populations with similar East Asian ancestry. Somatometric data and fasting blood sample were collected from 521 tribal individuals (258 Liangmai and 263 Mizo) of Manipur after obtaining written informed consent. Genotyping of FTO rs9939609 single nucleotide polymorphism (SNP) was done using restriction fragment length polymorphism method for PCR-amplified fragments. Both the presently studied populations were not following Hardy-Weinberg law. The prevalence of obesity and minor allele frequency of FTO rs9939609 polymorphism was found to be significantly higher among the Mizo tribe compared to that of Liangmai. The selected polymorphism was found to be significantly associated with obesity (BMI) only among the Liangmai tribe (Odds ratio-3.0; 95% CI-1.4, 6.4; p-0.003), after adjusting for age and occupation. Age-cohort wise distribution and absolute fitness analysis indicated the lower fitness of minor allele in the higher age group among the Liangmai tribe. To the best of the author's knowledge this is the first study, associating FTO rs9939609 gene polymorphism and obesity in the North-eastern Indian tribal populations with East-Asian ancestry. This study revealed the FTO rs9939609 polymorphism is observed to be associated with obesity only among the Liangmai tribe not among the Mizo tribe. The differential distribution and association observed in the two selected tribes, inhabited in a similar geographical region, could be attributed to differences in their migratory histories in terms of both route and time of settlement.

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. The phylogenetic inference was drawn through the statistical comparisons of the present DRD2 and ANKK1 TaqI site data with the available data from population groups belonging to other parts of India and also rest of the world (ALFRED Database). All the three TaqI sites were found to be polymorphic among Oraons and Mundas with relatively high average heterozygosities. Oraons exhibited a comparatively higher frequency of the ancestral B2D2A1 haplotype (0.356) than the Mundas (0.193). Significant and higher linkage disequilibrium (LD) values between all three sites were observed among Mundas which is indicative of admixture, whereas Oraons exhibited non significant and low LD values. The presence of ancestral haplotype B2D2A1 in higher frequency and lower and non-significant LD among Oraons suggest that they might be the older inhabitants in the region though the major limitation of the study is small sample size which might have introduced bias in the accuracy of the calculated pairwise LD for the three polymorphic sites.

Gender discrimination in undernutrition with mediating factors among Bengalee school children from Eastern India.

This study was undertaken to determine age and sex variations in the prevalence of underweight and stunting, and to assess the impact of some socio-economic variables on undernutrition among 6-16 year old school children of Bengalee ethnicity in Chapra, West Bengal, India. The subjects were selected randomly from various schools and madrassas of the Chapra Block. A total of 725 children (342 boys and 383 girls) aged 6-16 years were measured and data on their socio-economic status were collected. Age and sex combined rates of underweight and stunting were 44.40% and 37.20%, respectively. Weight-for-age Z-score (WAZ) showed significant association with per-capita income (PCI) among boys (F=5.45) and girls (F=8.14). Height-for-age Z-score (HAZ) has also shown the association with per-capita income among boys (F=4.43) and girls (F=9.69). The WAZ was significantly associated with fathers' educational status (FOS) (t=-2.95) and the number of living rooms (NLR) (t=-2.91) among girls. The HAZ showed significant association with number of siblings (NS) among girls (F=4.25). Linear regression analyses revealed that NLR (t=2.04) and NS (t=1.95) had a significant impact on HAZ among boys. Among girls, PCI (t=3.38), FOS (t=2.87) and NLR (t=2.81) had a significant impact on WAZ and also PCI (t=3.28) and FOS (t=2.90) had a significant impact on HAZ. NLR had significant associations with underweight (χ(2)=3.59) and stunting (χ(2)=4.20) among boys. Among girls, PCI had significant associations with underweight (χ(2)=11.15) and stunting (χ(2)=11.64). FOS also showed significant associations with underweight (χ(2)=8.10) as well as stunting (χ(2)=8.28) among girls. NLR showed a significant association with underweight (χ(2)=7.75). Logistics regression analyses revealed that FOS (Wald=8.00) and NLR (Wald=4.09) were significant predictors of stunting among boys. Among girls, PCI was a significant predictor of underweight (Wald=10.95) as well as stunting (Wald=10.45). FOS, NLR and NS were also significant predictors of stunting (Wald=8.16), underweight (Wald=7.68) and stunting (Wald=6.97) respectively. The present study revealed that the nutritional status of the children was unsatisfactory and it is of paramount importance not only to increase the amount of food supplementation given but also to promote gender equality.

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. The polymorphism was screened among 642 unrelated individuals belonging to 14 population groups of India including both tribal and non-tribal caste groups from different geographical regions of India with distinct linguistic affiliations. An attempt is also made to understand the distribution of HP polymorphism among the studied populations. The result reveals the HP gene to be polymorphic in all the studied populations. Except the two tribal populations (Thotis of Andhra Pradesh and Patelias of Rajasthan) and one caste population (Rajput of Himachal Pradesh), all the studied populations are found to obey the Hardy-Weinberg equilibrium. The significance of the present study is elucidated with the prevalence of high mutant HP*2 allele frequency in India. Selection could be one of the most plausible explanations for this high HP frequency because of its uniformly high occurrence among all the studied populations.

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 frequencies of MTHFR 677T and 1298C alleles were found to be 10.08 and 20.66%, respectively. MTHFR homozygous genotype 677TT was absent in eight population groups and homozygous 1298CC was absent in two population groups. 677T allele was found to be highest among north Indian populations with Indo-European tongue and 1298C was high among Dravidian-speaking tribes of east India and south India. The less common mutant haplotype 677T-1298C was observed among seven population groups and overall the frequency of this haplotype was 0.008, which is similar to that of African populations. cis configuration of 677T and 1298C was 0.94%. However, we could not find any individual with four mutant alleles which supports the earlier observation that presence of more than two mutant alleles may decrease the viability of foetus and possibly be a selective disadvantage in the population.

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. The DNA was extracted and studied for a total of 20 autosomal markers, including 7 Alu Indels, 3 DRD2 TaqI sites, 3 ß-globin sites, and 7 restriction site polymorphisms. RESULTS: All the 20 studied molecular markers were found to be polymorphic in both the tribal population groups and showed similarities with respect to allele frequencies, with a low coefficient of gene differentiation (G(ST)) value. Moreover, sharing and distribution patterns of haplotypes of the ß-globin gene cluster suggest that the Oraon and Munda share a common ancestry. However, small differences between them with reference to the linkage disequilibrium (LD) pattern indicate that the Munda might have emerged as a result of admixture between Proto-Australoids and Austro-Asiatic-speaking Mongoloids as supported by the principal co-ordinate analysis, wherein the Munda are closely placed with the Dravidian-speaking Proto-Australoid tribes of India. CONCLUSION: A common genetic substratum (Proto-Australoid stock) of the Oraon and Munda was evident in the present study, although these tribes are distinct linguistically.

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). RESULTS: all the biallelic loci are polymorphic except CD4, which is monomorphic in six out of the eight studied populations. The average heterozygosity values are low (0.309-0.395), with relatively higher average heterozygosity values among Bamons and Muslims than other studied populations, suggesting admixture in these two populations. Lower heterozygosity values of the tribal populations place them closer to the Chinese and Southeast Asian populations, indicating their late arrival in India coupled with geographical isolation. CONCLUSION: this study provides evidence for the genetic heterogeneity of the Manipur populations. It also supports the hypothesis, based on the archeological and linguistic findings, that the northeastern populations of India have a close genetic affinity with the southeastern and East Asian populations. The genetic discontinuity observed between the studied populations and the other non-Northeast Indian populations suggests the role of northeast border as a "barrier" rather than a corridor.