Collaborative Projects - Anthropological Survey of India
Contribution to the Understanding of Diseases Processes as a Product of Human Evolution
Along with biological changes, humans evolved through cultural transformations, defined as three distinct stages. 1. Hunter Gatherers 2. Pastoralists and agriculturists 3 Urban Dwellers
Each stage has introduced a set of diseases basically as a process of biological adaptation. Stage1 to 2 in terms of red cell disorders Hamoglobinopathies, G6PD Deficiency and stage 2 to 3 in terms of complex life style diseases like Diabetes, Cardiac Diseases, Parkison, Cancer, Addiction to Alcohol etc
The Survey has identified Haemoglobinopathies related diseases for major intervention as community genetics program described earlier, the complex diseases were studies as a collaborating program for understanding genomic histories of the disease genes in the Indian populations. While a multicentric, multi institutional program with respect to understanding bio-cultural aspects of Type 2 Diabetes is being initiated as the 11th plan program.
DNA Polymorphism: Cardiac Disease
A Study on Lipoprotein (A) and Apolipoprotein (E) genes in the population of Kolkata, has been initiated with two objectives viz., 1) to assess Lipoprotein (A) level and its molecular bases with the view to identify the individuals at risk for cardio-vascular disease and 2) to determine Apolipoprotein (E) polymorphism as a useful adjunct to determine the cardio-vascular risk profile.
DNA Polymorphism: Genetic Basis of Spina Bifida (A Developmental Anomaly)
In collaboration with the Bangur Institute of Neurology, Kolkata, the project has been initiated with three larger objectives: 1) to investigate the frequency of Spina Bifida in Indian populations 2) to create awareness of taking folic acid by the mothers as well as expectant mothers as a preventive measure and 3) to identify SNPs in the Candidate Genes of the Disorder.
DNA Polymorphism: Diabetes Type II
Study of Diabetes, Lipid profile and Anthropometry - Habitats and Habits: A Multidisciplinary Approach has been initiated with the objective of 1) to make a population based survey comparing the prevalence of diabetes mellitus abnormalities in lipid profile, anthropometric parameters (like height, weight, BMI, waist and hip circumferences, waist hip ratio and conicity index) between the fishermen community and urban healthy population and 2) to assess the abnormalities of lipid profile in known diabetes subjects attending the diabetes clinics of different city hospitals of Kolkata and compare it with urban and rural control population.
DNA Polymorphism: Alcoholism
To larger objective of the project is to study the predisposition of genetic resistance to alcoholism among the Bondos of Orissa, at the molecular level, in collaboration with the Department of Anthropology, Utkal University. Other objectives include 1) to identify ALDH and ADH candidate genes associated with alcoholism among the Bondo population of Orissa and 2) to compare the findings with other studies.
Information was collected by participant observation with standard questionnaire and alcoholic families were stressed by both horizontal and vertical genealogy study for studying the health problems. Subjects were interviewed with the modified Michigan Alcoholism Screening Test (MAST). In brief, MAST is a 24-item questionnaire, which was validated and has yielded high sensitivity and specificity to screen alcoholics. Subjects who will score less than eleven, which is a cut of point on the MAST were taken as non-alcoholic. Venous blood samples of 110 individuals of the Bondo tribe were subjected to analysis. Out of the seven gene families responsible for alcoholism, only two gene families (ADH and ALDH) are responsible for giving genetic protection to alcoholism. Results ‘High frequency of protective ALDH2 Allele among Bondo Highlanders’ has been communicated to Annals of Human Biology. A review paper on alcoholism entitled ‘Genetics of Alcohol use in Human: An overview’ has recently appeared in print in the International Journal of Human Genetics (2008, 8: 181- 97).
DNA Polymorphism: Parkinson's Disease
‘Molecular Characterization of Parkin Gene’ was initiated in collaboration with the Department of Neurology, Calcutta Medical College and Hospital, Kolkata. The larger objectives of the project are 1) to determine the different mutations in the PARKIN gene in the different ethnic groups of the study area and 2) to study the possible admixture and inheritance of genes in that area.
Parkinson's disease is the second most common neurodegenerative disorder and presents as progressive movement disorder. It is characterized by the progressive loss of dopaminergic neurons in the substantia nigra. It affects approximately one per cent of the population over the age of 50. The prevalence rate is much higher in the western countries (150-200 per 100,000) while the prevalence in India is low (around 14-27 per 100,000). Prevalence rate varies across communities for example, the incidence of the disease is much higher among the Parsi (328 per 100,000) living in India while the lowest prevalence is in China, Japan and Africa.
Blood samples of 36 patients were collected from Medical College, Kolkata with an informed consent. Analyzed the PARKIN gene (Chr 6q 25.2-26), Exon: 4, 10 to detect the disease causing mutations. Four population cohorts namely, Andh, Munda, Kathodi and Gallong housed in the DNA repository have also been analysed to understand candidate gene polymorphism.
DNA Polymorphism: Diabetes Type I
‘Molecular Characterization of Type1 Diabetes in West Bengal population’ project came in to being in collaboration with the Department of Endocrinolgy, SSKM, Kolkata, Diabetic Clinic, Calcutta Medical College Kolkata, Rabindranath Research Institute of Cardiac Sciences, Kolkata and School of Tropical of Medicine, Kolkata.
Type 1 diabetes mellitus is a multifactorial autoimmune disease where more than 90% of patients are children in whom insulin-producing pancreatic beta cells are destroyed before the clinical manifestations. The main objectives of the study are 1) to use a combination of genetic markers associated with type 1 diabetes to predict the future development of T1D in newborns or early infancy 2) for the molecular understanding of the pathogenesis of this autoimmune disease and 3) to determine the frequency of Type-1 diabetes in different ethnic groups of West Bengal.
Diabetes is defined by the (ADA) Expert Panel by (1) replicate fasting blood glucose levels exceeding 126 mgs/dl (7 mmol/L) and/or (2) 2 hour peak glucose levels, after an oral glucose tolerance test (OGTT) of 200 mgs/dl (11.1 mmol/L) in the absence of symptoms, or by a random glucose level exceeding 200 mgs/dl in the presence of symptoms such as polyuria, polydipsia and weight loss that suggest insulin deficiency.
India has an incidence of 10.5 / 1,00,000 in a year. T1D-mellitus is a multifactorial autoimmune disease where more than 90% of patients are children in whom insulin-producing pancreatic beta cells are destroyed before all the manifestations.
Altogether 109 patients & 50 control blood samples were collected with an informed consent and HLA CLASS II Genes - HLA DRB1_Exon-2, DQA1_Exon-2&3 were sequenced and the SNPs were also detected.
Eco-Genetic Study in Manipur
Eco-genetic study in Manipur was taken up in the Central Regional Centre of the An.S.I. to study 1) the prevalence of abnormal haemoglobin types and other genetic disorders namely, G-6-PD deficiency among the Kuki (Thadou, Paite etc.) of Manipur, 2) to investigate the role of abnormal haemoglobins playing in the malaria prone zones of the state inhabited by the Kuki and 3) to examine the type of Beta-globin haplotypes prevalent among the Kuki of two districts of Manipur.
Molecular Evaluation of the Angiotensinogen Gene in Indian Populations
The project ‘Molecular evaluation of the angiotensinogen gene in Indian populations’ was taken up in the CRC, of An.S.I. The principal aim of this study is oriented towards understanding the mechanisms of blood pressure control and hypertension at the molecular genetic level. Two other larger objectives are: 1) Identification of linkage between AGT gene and human essential hypertension and 2) to utilize molecular-genetic, biochemical and anthropometric techniques to elucidate the basic mechanisms of normal and altered regulation of blood pressure. The results have been communicated to press.
Genetic Profile of Aggression and Aggressive Behavior
Studies related to aggression and aggressive behaviour are largely associated with Psychiatric Departments but this project was taken up to have a comprehensive comparative study within the normal populations, criminals and psychiatric subjects to unravel the genetic bases, if any. The broad objectives of the study are: 1) to evaluate the ratio of aggression using psychiatric tools 2) to study and compare the comprehensive genetic profile of aggression and aggressive behaviour with their sibs with age matched normal, sociable, and amiable individuals 3) to bring whether gender has any genetic pattern in determining aggression and aggressive behaviour and 4) to see whether or not genetic factor per-se influences it and 4)to bring out the pattern of genetic elements that underlie aggression and aggressive behavoiur, if any.
Genetic Analysis of Tumor Supressor Genes (DBC2, BRCA1, BRCA2 2) & Mitocondrial DNA Involved in Brest Cancer Patiences in India
This project was initiated with the aim to determine the patterns of breast cancers through a comprehensive screening of mtDNA mutations. The broad objectives are: 1) to understand the genetic pattern of tumor suppressor genes (DBC2, BRCA1 and BRCA2) in the development of human breast cancers patients in India and 2) to detect the DBC2, BRCA1 and BRCA2 mutations in a group of Indian patients with breast cancer, in an attempt to establish a genetic profile for these patients and 3) to focus on the pattern of inheritance of genes (DBC2, BRCA1 and BRCA2) in Indian populations. This project is undertaken in collaboration with Department of Genetics, Osmania University, Hyderabad. The results have been communicated to press.
In addition, a few short projects were undertaken by the An.S.I. in collaboration with various university departments / PG Institutes of Medical Sciences from time to time in the last few years.
1) Gene Expression study on cox1, cox2 in induced gastric ulcer in collaboration with the Department of Biochemistry, Post Graduate Institute of Medical Education and Research, Kolkata.
2) Dissertation programme / Project work done by M.Sc. student/s from:
i. The Department of Biotechnology, Barkatullah University, Bhopal (March 2007)
ii. The Department of Biotechnology, Trident Academy of Creative Technology, Bhubaneswar. (March 2008)
iii. Project work done by two students from the Department of Genetics, University of Calcutta, Kolkata under summer project programme (May 2008)
iv. Laboratory appreciation and orientation programme for the students of Bengal Institute of Technology, Kolkata (August 2007)
v. Laboratory appreciation and orientation of Molecular Anthropology for the students of the Department of Anthropology, University of Calcutta, Kolkata (May 2008).