Allelic variation in the NPY gene in 14 Indian populations

• Published in: Journal of human genetics Vol. 52; no. 7; pp. 592 - 598
• Main Authors: Bhaskar, L V K S, Thangaraj, K, Shah, Anish M, Pardhasaradhi, G, Praveen Kumar, K, Reddy, A G, Papa Rao, A, Mulligan, C J, Singh, Lalji, Rao, V R
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-07-2007
• Subjects: Alleles; Amino Acid Substitution - genetics; Chromosome 7; Gene frequency; Genetic drift; Genetic Variation; Genetics, Population; Haplotypes; Humans; India - ethnology; Linkage disequilibrium; Male; Nervous system; Neural coding; Neuropeptide Y; Neuropeptide Y - chemistry; Neuropeptide Y - genetics; Peptides; Polymorphism, Single Nucleotide - genetics; Population genetics; Population studies; Proline - genetics; India
• ISSN: 1434-5161; 1435-232X
• DOI: 10.1007/s10038-007-0158-x

NPY is a 36-aminoacid peptide expressed in several areas of the nervous system. Neuropeptide Y (NPY) receptors represent a widely diffused system that is involved in the regulation of multiple biological functions. The human NPY gene is located in chromosome 7. The functional significance of coding Leu7Pro polymorphism in the signal peptide of preproNPY is known. Six hundred and fifty four individuals of 14 ethnic Indian populations were screened for three mutations in the NPY gene, including Leu7Pro. We found that the Pro7 frequencies among the studied populations were much higher than in previous studies from other parts of the world. The highest allele frequency of Pro7 was detected in the Kota population in the Nilgiri Hill region of south India, and this may reflect a founder event in the past or genetic drift. All populations followed the Hardy-Weinberg equilibrium for the assayed markers. A total of five haplotypes were observed, only two of which were found to occur with a high frequency in all populations. No linkage disequilibrium (LD) was observed across the tested alleles in any population with the exception of Leu7Pro and Ser50Ser in the Badaga population (chi(2) = 13.969; p = 0.0001).