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Is there a pattern of gene differentiation in the Indian populations.

Indian populations divided into a number of endogamous groups consisting of different castes, languages, religions, and tribes provide unique opportunities for examining the extent and nature of genetic differentiation at a microevolutionary stage. The genetic relationships between some of these Indian population groups have been examined using electrophoretic data from several biochemical loci in a gene diversity analysis. Does this type of analysis provide any insight into what causes such gene differentiation? What patterns of genetic variation emerge from these empirical findings? Answers are sought by relating the observed heterozygosity, genetic distance, and allied statistics to a mutation-drift hypothesis. The statistics used are: (1) interlocus mean and variance of heterozygosity, (2) mean and variance of genetic distance, and (3) correlation of heterozygosity and gene identity. The observed relationships between these sets of statistics agree well with the ones predicted by the hypothesis that different alleles at protein loci are selectively equivalent and gene frequency change occurs predominantly due to genetic drift.

Gene Frequency

An analysis of the 4c complex of HL-A based on Indian populations.

Sera detecting part or all of the 4c group of HL-A antigenic specificities were compared in two American Indian populations, the Ixils and the Pimas, and in one Spanish-Indian hybrid population, the Mestizos of Peru. Several new variants appeared. These were not identical to HL-A5, W5 or W18. Two of the variants appeared to represent specificities Z57 and Z51 as described during the 1972 Histocompatibility Testing Workshop. In addition, three new specificities could be detected. These were Z42, Ao88 and Ao93. Z42, Ao88 appeared to belong to the 4c complex and Ao93, a new specificity of the second locus, may belong to this same cross-reactive group.

Antigen-Antibody Reactions

Genetic Influence of CYP2D6 on Risperidone Metabolism: Pharmacokinetic and Pharmacodynamic Study in a Healthy South Indian Population.

OBJECTIVE: The CYP2D6*10 allele, which is prevalent in the Indian population, is of particular clinical significance. This study aims to investigate the effect of the CYP2D6*10 allele on the pharmacokinetics of risperidone and its metabolites following single-dose administration in healthy South Indian volunteers. METHODS: The study was conducted with twenty healthy volunteers who were administered a single 2&#xa0;mg dose of risperidone. CYP2D6 genotyping was performed using the PCR-RFLP method. Plasma levels of risperidone (RIS) and its active metabolite 9-hydroxyrisperidone (9-OHRIS) were quantified using a UPLC-DAD system. RESULTS: Significant differences in pharmacokinetic parameters were observed across the CYP2D6*10 genotypes. For intermediate metabolizers, the Cmax, AUC0-t, and T1/2 were approximately 1.2 times higher, and the metabolic ratio was double compared to normal metabolizers. Notably, the Cmax of the active moiety was significantly higher in intermediate metabolizers compared to normal metabolizers (p&#xa0;<&#xa0;0.05). These findings indicate that CYP2D6 polymorphisms are associated with altered pharmacokinetic profiles of risperidone, with a reduced metabolic activation in individuals carrying the *10 allele. CONCLUSION: The results suggest that CYP2D6 genotyping could help inform personalized dosing strategies for risperidone, though further randomized controlled trials are required to confirm these findings.

Humans

CLOCK gene 3'UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population.

BACKGROUND: Hypertension (HTN) is a medical condition characterized by persistent systolic and diastolic blood pressures of &#x2265;&#x2009;140 mmHg and &#x2265;&#x2009;90 mmHg, respectively. With more than 1200&#xa0;million adult patients aged 30-79 years worldwide according to the latest WHO data, HTN is a major health risk factor; more importantly, 46% of patients are unaware of this condition. Essential hypertension (EH), also known as primary hypertension, is the predominant subtype and has a complex etiology that involves both genetic and non-genetic factors. Majority of living organisms are influenced by the light and dark cycle of a day and respond to these changes through an intricate clock referred to as the "biological clock" or "circadian rhythm". The connection between circadian rhythm and blood pressure is well established, with many studies supporting the role of circadian rhythm gene mutation(s)/polymorphism(s) in EH. To date, no such data are available from any Indian population. METHODS: This case&#x2012;control study was conducted on 405 EH patients and 505 healthy controls belonging to the Jammu region of North India after an informed consent was obtained from the participants. A total of three single nucleotide variants, two in the CLOCK gene (rs1801260 and rs34789226) and one in the BMAL1/ARNTL gene (rs6486121), were selected for genotyping. Genotyping was performed via the RFLP technique, and the applicable statistical analyses were performed via the SPSS and SNPStats programs. RESULTS: Logistic regression analysis revealed a statistically significant association of both CLOCK gene variants rs1801260 (T&#x2009;>&#x2009;C 3'UTR) and rs34789226 (C&#x2009;>&#x2009;T Exon 9) and a nonsignificant association of the BMAL1/ARNTL intronic variant rs6486121 (C&#x2009;>&#x2009;T) with EH. The 3'UTR variant showed a statistically significant association under the codominant (p&#x2009;<&#x2009;0.0001), dominant (p&#x2009;<&#x2009;0.0001), and recessive (p&#x2009;=&#x2009;0.0004) models. In contrast, the exon 9 variant showed a statistically significant negative association under the codominant (p&#x2009;=&#x2009;0.003) and dominant (p&#x2009;=&#x2009;0.015) models only. The rs6486121/rs1801260 and rs1801260/rs34789226/rs6486121 haplotypes showed significant differences in their distribution between cases and controls (p&#x2009;<&#x2009;0.0001). Certain genotypes and haplotypes were found more common in hypertensive males than females. CONCLUSION: This is a first report linking circadian rhythm gene polymorphisms with EH in any Indian population. The statistically significant association of the CLOCK gene 3'UTR and exon 9 polymorphisms with EH, highlight the potential role of this gene and probably other genes of the circadian pathway in the etiology of EH in the study population. Additionally, our study also revealed that certain genotypes are making males more susceptible to EH.

Humans

A novel pattern of treponemal antibody distribution in isolated South American Indian populations.

Serologic surveys for treponemal disease were carried out in 1970-1976 among three linguistically distinct and isolated population groups in the Brazilian Amazon Region and among the Mapuche Indians of southern Chile. Three patterns were found: 1) no evidence for treponemal infection in two very recently contacted groups; 2) sporadic positive individuals in groups with long periods of contact with non-Indian populations; and 3) a high prevalence of positive tests in one cultural group with limited exposure to non-Indians. The seroepidemiology and clinical manifestations of a possible treponemal infection in those villages with a high prevalence of positive tests were unlike those of the classically described human treponematoses.

Adolescent

The prevalence of hypertension in the Indian population of Durban.

In a random house-to-house study of 1 000 Indians the prevalence of essential hypertension according to the World Health Organization (WHO) criteria was 19% (females 22%; males 15%). The study revealed that the prevalence of hypertension was higher than in published data from India. Ethnicity in our study caused a significant variation in prevalence. Prevalence was lower than in our urban Zulu study. Blood pressure rose with age, but there was a greater rise in systolic than in diastolic blood pressure. Prevalence in males and females under 40 years were equal. There was an association between hypertension and diabetes mellitus. More effective screening and therapeutic programmes should be initiated in the Indian population because of the high prevalence of hypertension which may lead to complications if untreated, and because 58% of the hypertensive subjects were untreated or had discontinued therapy.

Adolescent

Association of PCSK9 and CCL22 gene polymorphisms with myocardial infarction in a South Indian population.

Myocardial infarction (MI) remains a major global cause of morbidity and mortality, with a particularly high burden among individuals with type 2 diabetes mellitus (T2DM). Host genetic factors play a significant role in modulating individual susceptibility to MI by influencing lipid metabolism and immune-mediated inflammatory pathways. The proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a key regulator of cholesterol homeostasis, while C-C motif chemokine ligand 22 (CCL22) is involved in immune cell recruitment and vascular inflammation. In this study, we investigated the association of PCSK9 rs505151 and rs11591147 and CCL22 rs4359426 polymorphisms with MI risk in a South Indian population. This case-control study included 400 participants categorized into controls (n&#x2009;=&#x2009;100), MI (n&#x2009;=&#x2009;100), T2DM (n&#x2009;=&#x2009;100), and MI with T2DM (n&#x2009;=&#x2009;100). Significant differences in clinical and biochemical parameters, including lipid indices and cardiometabolic risk markers, were observed between groups (p&#x2009;<&#x2009;0.05). Genetic analysis revealed a significant association between the PCSK9 rs505151 variant and MI susceptibility across allelic and genotypic distributions, with significant effects under dominant and recessive inheritance models. Multivariable logistic regression confirmed that the rs505151 risk genotype was independently associated with MI after adjustment for age, sex, body mass index, and smoking status. In contrast, PCSK9 rs11591147 was rare and showed no significant association. The CCL22 rs4359426 polymorphism showed limited evidence of association with MI, with a significant effect observed only under the dominant inheritance model. Furthermore, combined analysis using a genetic risk score suggested that cumulative genetic burden involving PCSK9 and CCL22 variants was associated with an increased risk of MI. Overall, our findings suggest that genetic variation in lipid-regulatory and immune-related pathways may contribute to MI susceptibility in South Indians. Further studies are warranted to validate these associations and clarify their biological and clinical relevance.

Humans

Chromosomal structure in Indian populations of Drosophila immigrans Sturtevant.

Mitotic chromosomes in different Indian geographic populations of D. immigrans were examined by modern air-dried technique. A map of salivary gland chromosomes has been constructed. Several identifiable natural landmarks in each arm of the chromosomes were recognised. Analysis of several different geographic populations has revealed one common inversion in II L. In addition, on deletion has also been detected in the X-chromosomes which is reported for the first time in this species.

Animals

C3 polymorphism in some Indian populations.

The distribution of C'3 phenotypes was studied in one tribal and three urban populations from India. The C'3F gene was found low in frequency compared to European and West Asian populations. Quantitatively also, the concentration of the C3 component in the Indian region was found significantly low to the European and West Asian populations reported previously.

Asia, Western

Hydrogen cyanide smell sensitivity in some Indian populations.

The ability to smell HCN has been examined in a sample of 2619 subjects from Hyderabad, Andhra Pradesh, belonging to different Indian ethnic groups. One single antimode, between concentrations of 5% and 10%, has been found. No sex nor ethnic differences were noted. Previous claims of possible sex-linked inheritance could not be confirmed.

Adolescent

Gene diversity in Indian populations.

Gene frequency data of ten protein and enzyme loci in seven populations of India were collected from the literature. The gene differentiation among seven populations relative to total population was only 0.6%, indicating that the genic variation between populations was small compared to that within them. Using 29 common protein loci, the genetic distances between Indians and three major races of man, Caucasoids, Mongoloids, and Negroids were also determined. Indians are closer to Mongoloids than to Caucasoids or Negroids as indicated by the phylogenetic tree.

Alleles

Prevalence of ankylosing spondylitis and HLA-B27 in a North American Indian population: a pilot study.

The value of an epidemiologic approach to the diagnosis of ankylosing spondylitis was assessed in a pilot study of an Amerind population. In 103 adult volunteers aged 20 to 42 years on a Cree reservation lumbar flexion and chest expansion were measured and HLA typing was performed on peripheral blood lymphocytes. Of the 14 subjects with HLA-B27, 2 had radiologic evidence of sacroiliitis but none could be said to have definite ankylosing spondylitis on clinical grounds.

Adult

Hepatitis--Bs antigen in an isolated Indian population of southern Venezuela: a family study.

A genetic analysis of the presence of HBsAg in a population of which 7.2% of the members were positive is presented. Though the ratios of carriers: non-carriers were generally in good agreement with expectation if the carrier state were determined by homozygosity for a single recessive gene, the two examples of mating most critical to a test of the hypothesis, carrier X carrier, yielded 2 normal children among 4 in one family, and one normal child, the only offspring, in the second family. Other investigators have reported similar findings. We conclude that the hypothesis of simple recessive inheritance cannot be sustained.

Adolescent

ABO blood groups and chicken pox in an Indian population.

ABO blood groups have been examined in a sample of 400 chicken-pox patients and their 383 unaffected siblings from Hyderabad, Andhra Pradesh, India. Subjects of blood group A (and possibly AB) would appear to have a somewhat higher risk than persons with group B and O to develop chicken pox.

ABO Blood-Group System