Sex-Related Differences In Allelic Frequency Of The Human Beta T Cell Receptor Snp Rs1800907: A Retrospective Analysis From Milan Metropolitan Area

This paper aims at retrospectively re-analyzing the different distribution, between males and females, in the allelic frequency of the human beta T cell receptor (TCR beta) 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 TCR beta-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.