title: Analysis of ANKKI (rs1800497) and DRD2 (rs1079597, rs1800498) variants in five ethnic groups from Punjab, North-West India.
abstract: Dopamine D2 receptor (DRD2) is one of the essential neurotransmitters in the brain studied extensively in the field of psychiatric disorders, alcoholic behaviors and Pharmacology. It is also a promising gene for studying the evolutionary and genetic variation among populations. The present study was an attempt to understand the extent of genetic variation among five different ethnic groups (Bania, Brahmin, Jat Sikh, Khatri and Scheduled caste) of Punjab (North West India). A total of 1012 individuals belonging to the above mentioned groups were analyzed for three TaqI Polymorphic loci of DRD2 and ankyrin repeat and kinase domain containing 1 (ANKKI) using the allele frequencies and haplotype frequency distribution pattern. All the three loci were found to be polymorphic among the studied populations. The average heterozygosity for all loci in these ethnic groups was fairly substantial ranging from 0.3936 to 0.4986. The genetic differentiation among the population was observed to be in order of 0.0053.Among of the eight studied haplotypes, only six were shared by all the ethnic groups. TaqID and TaqIB loci were reported to be in significantly higher linkage disequilibrium (LD) in Scheduled Caste only, whereas TaqIA and TaqID showed modest LD in Brahmin, Jat Sikh and Khatri. Multidimensional scaling analysis revealed that the studied ethnic groups formed a close cluster, suggesting similar genetic structure of these populations which are in close proximity with other Indo European speaking North Indian and western Indian population groups. Overall this study highlights the genomic uniformity among the ethnic groups of Punjab (North-West India) owing to their common ancestral history and geographical closeness.
authors.affiliation: Department of Anthropology, Panjab University, Chandigarh 160014, India; Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India.
authors.forename: Gagandeep
authors.initials: G
authors.lastname: Singh
authors.affiliation: Department of Anthropology, Panjab University, Chandigarh 160014, India.
authors.forename: Indu
authors.initials: I
authors.lastname: Talwar
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India.
authors.forename: Rubina
authors.initials: R
authors.lastname: Sharma
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India.
authors.forename: Harkirat Singh
authors.initials: HS
authors.lastname: Sandhu
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India. Electronic address: matharookawal@gmail.com.
authors.forename: Kawaljit
authors.initials: K
authors.lastname: Matharoo
authors.affiliation: Department of Human Genetics, Guru Nanak Dev University, Amritsar 143005, Punjab, India. Electronic address: ajsbhanwer@gmail.com.
authors.forename: A J S
authors.initials: AJS
authors.lastname: Bhanwer
mesh_terms: D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007194:India; D015810:Linkage Disequilibrium; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017448:Receptors, Dopamine D2 / Q000235:genetics*
chemical_list: D017448:Receptors, Dopamine D2; C489948:ANKK1 protein, human; D017346:Protein Serine-Threonine Kinases
keywords: ANKKI gene; DRD2 gene; Haplotype; Linkage disequilibrium; North West India; PCR-RFLP