Varoni Elena M, Lodi Giovanni, Del Fabbro Massimo, Sardella Andrea, Carrassi Antonio, Iriti Marcello, Tripputi Pasquale
Dipartimento di Scienze Biomediche, Chirurgiche ed Odontoiatriche, Università degli Studi di Milano, Via Beldiletto 1, 20142 Milano, Italy.
National Interuniveristy Consortium of Materials Science and Technology (INSTM), 50121 Firenze, Italy.
Vaccines (Basel). 2021 Apr 1;9(4):333. doi: 10.3390/vaccines9040333.
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 ( < 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 ( < 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.
本文旨在回顾性地重新分析米兰大都市地区白种人患者中人类βT细胞受体（TCRβ）单核苷酸多态性（SNP）rs1800907等位基因频率在男性和女性之间的不同分布情况。等位基因频率在性别之间存在显著差异。女性的C/C基因型频率高于男性，但T/C基因型频率低于男性（<0.0001）。杂合子（T/C）与纯合子（T/T + C/C）基因型在男性和女性中的频率分布不同，女性具有更高的纯合性（<0.0001）。在本研究的局限性（纳入研究数量少且仅涉及特定地理区域）范围内，根据性别划分的等位基因分布可能解释了TCRβ相关SNP在自身免疫性疾病中的作用，从性别相关的T细胞免疫反应性和自身免疫性角度来看，还需要进一步研究以更好地解释这种遗传背景。
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