Abstract
We searched for a difference in allele distribution between males and females of a single nucleotide polymorphism located in the human beta T-cell receptor, in 500 subjects (200 males and 300 females). Genotype analysis gave the following results: among the males, 114 (57%) were heterozygous for the T/C polymorphism, 52 (26%) were homozygous (T/T), and 34 (17%) were homozygous (C/C). Among the females, 142 (47.3%) were heterozygous, 73 (24.3%) were homozygous (T/T), and 85 (28.3%) were homozygous (C/C). The allele frequency was significantly different between sexes (χ2 = 8.799, P = 0.012).
Similar content being viewed by others
References
Cigognini D, Corneo G, Ferro E, Zanella A, Tripputi P (2007) HIC gene, a candidate suppressor gene within a minimal region of loss at 7q31.1 in myeloid neoplasms. Leuk Res 31:477–482
Clark JV, Ptak ES, Tiemann I, Qian Y, Coop G (2007) Combining sperm typing and linkage disequilibrium analyses reveals differences in selective pressures or recombinant rates across human populations. Genetics 175:795–804
Hirschhorn NJ, Lohmueller K, Byrne E, Hirschhorn K (2002) A comprehensive review of genetic association studies. Genet Med 4:45–61
Niven MJ, Caffrey C, Moore RH, Sachs JA, Mohan V, Festenstein H, Hoover ML, Hitman GA (1990) T-cell receptor beta-subunit gene polymorphism and autoimmune disease. Hum Immunol 27:360–367
Payami H, Zhu M, Montimuro J, Keefe R, McCulloch CC, Moses L (2005) One step closer to fixing association studies: evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controls. Hum Genet 118:322–330
Redden TD, Allison BD (2003) Nonreplication in genetic association studies of obesity and diabetes research. J Nutr 133:3323–3326
Selmi C, Invernizzi P, Tripputi P, Battezzati PM, Bignotto M et al (2003) T-cell receptor polymorphism in primary biliary cirrhosis. Ann Ital Med Int 18:149–153
Tripputi P, Guerin S, Moore DD (1988) Two mechanisms for the extinction of gene expression in hybrid cells. Science 241:1205–1207
Tripputi P, Graziani D, Alfano RM, Cassani B, Coggi G (2000) A common T/C polymorphism in the promoter region of the beta T-cell receptor gene. Mol Cell Probes 14:195–197
Tripputi P, Bianchi S, Fedele L (2008) A possible mechanism for nonreplication of allelic association between a single nucleotide polymorphism of the human T-cell receptor and autoimmune diseases. Int J Immunogenet 35:141–144
Acknowledgment
This work was supported in part by grants (FIRST) from the University of Milan.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Tripputi, P., Cigognini, D., Bianchi, S. et al. Different Allelic Distribution of a Single SNP Between Sexes in Humans. Biochem Genet 46, 733–736 (2008). https://doi.org/10.1007/s10528-008-9188-0
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10528-008-9188-0