Department of Psychiatry, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.
BMC Genomics. 2014 Jan 17;15:33. doi: 10.1186/1471-2164-15-33.
Genomes of men and women differ in only a limited number of genes located on the sex chromosomes, whereas the transcriptome is far more sex-specific. Identification of sex-biased gene expression will contribute to understanding the molecular basis of sex-differences in complex traits and common diseases.
Sex differences in the human peripheral blood transcriptome were characterized using microarrays in 5,241 subjects, accounting for menopause status and hormonal contraceptive use. Sex-specific expression was observed for 582 autosomal genes, of which 57.7% was upregulated in women (female-biased genes). Female-biased genes were enriched for several immune system GO categories, genes linked to rheumatoid arthritis (16%) and genes regulated by estrogen (18%). Male-biased genes were enriched for genes linked to renal cancer (9%). Sex-differences in gene expression were smaller in postmenopausal women, larger in women using hormonal contraceptives and not caused by sex-specific eQTLs, confirming the role of estrogen in regulating sex-biased genes.
This study indicates that sex-bias in gene expression is extensive and may underlie sex-differences in the prevalence of common diseases.
男性和女性的基因组仅在位于性染色体上的少数基因上存在差异，而转录组则具有更高的性别特异性。鉴定性别偏向的基因表达将有助于理解复杂性状和常见疾病中性别差异的分子基础。
使用微阵列在 5241 名受试者中描述了人类外周血转录组的性别差异，其中包括绝经期状态和激素避孕药的使用。在 582 个常染色体基因中观察到性别特异性表达，其中 57.7%在女性中上调（女性偏向基因）。女性偏向基因富集了几个免疫系统 GO 类别、与类风湿关节炎相关的基因（16%）和受雌激素调节的基因（18%）。男性偏向基因富集了与肾癌相关的基因（9%）。绝经后女性的基因表达性别差异较小，使用激素避孕药的女性的性别差异较大，并且不是由性别特异性 eQTL 引起的，这证实了雌激素在调节性别偏向基因中的作用。
本研究表明，基因表达的性别偏向是广泛存在的，可能是常见疾病患病率性别差异的基础。
