Sex-Related Differences in Allelic Frequency of the Human Beta T Cell Receptor SNP rs1800907: A Retrospective Analysis from Milan Metropolitan Area
Open Access
Abstract
This paper aims at retrospectively re-analyzing the different distribution, between males and females, in the allelic frequency of the human β T cell receptor (TCR β) single nucleotide polymorphism (SNPs) rs1800907 in Caucasian patients in the Milan metropolitan area. The allelic frequency significantly differed between sexes. Females showed higher frequency of C/C genotype than males, but lower T/C genotype (p < 0.0001). Heterozygous (T/C) versus homozygous (T/T + C/C) genotypes resulted in a different distribution of frequencies in males than in females, the latter possessing higher homozygosis (p < 0.0001). Within the limitations of this work (small number of included studies that concerned just a specific geographical area), allelic distribution according to sex might account the role of TCRβ-related SNPs in autoimmune diseases and further investigations are required to explain better this genetic background, in the perspective of a sex-related T cell immune responsiveness and auto-immunity.Keywords
This publication has 32 references indexed in Scilit:
- Revisiting the T-cell receptor alpha/delta locus and possible associations with multiple sclerosisGenes & Immunity, 2011
- REVIEW ARTICLE: The Immune System in Pregnancy: A Unique ComplexityAmerican Journal of Reproductive Immunology, 2010
- Sex-specific genetic architecture of human diseaseNature Reviews Genetics, 2008
- A possible mechanism for non-replication of allelic association between a single nucleotide polymorphism of the human beta T-cell receptor and autoimmune diseasesInternational Journal of Immunogenetics, 2008
- Combining Sperm Typing and Linkage Disequilibrium Analyses Reveals Differences in Selective Pressures or Recombination Rates Across Human PopulationsGenetics, 2007
- The sex-specific genetic architecture of quantitative traits in humansNature Genetics, 2006
- One step closer to fixing association studies: evidence for age- and gender-specific allele frequency variations and deviations from Hardy-Weinberg expectations in controlsHuman Genetics, 2005
- Sequence Variation and Linkage Disequilibrium in the Human T-Cell Receptor β (TCRB) LocusThe American Journal of Human Genetics, 2001
- A common T/C polymorphism in the promoter region of the beta T-cell receptor geneMolecular and Cellular Probes, 2000
- Two Mechanisms for the Extinction of Gene Expression in Hybrid CellsScience, 1988