BackgroundFamilial adenomatous polyposis (FAP) is a well characterised genetic predisposition to early onset colorectal cancer (CRC) that is characterised by polyposis of the colon and rectum. Animal models have consistently suggested the role of modifier genes in determining disease phenotype, yet none have been substantiated in the human population. The mouse homologue of cluster of differentiation 36 (CD36) has been proposed as a modifier of disease in the MIN mouse model of FAP.MethodsThree single nucleotide polymorphisms (SNPs); rs1049673, rs1761667 and rs1984112 in CD36, have been investigated in 275 FAP patients to determine if they were associated with age of polyposis or risk of developing disease.ResultsThe results revealed a substantially lower age of polyposis diagnosis for patients belonging to the severe FAP group (harbouring adenomatous polyposis coli (APC) variants in the mutation cluster region (MCR)) and high age for patients in the attenuated familial adenomatous polyposis (AFAP) group for SNPs rs1761667 and rs1984112.ConclusionsThis study provides evidence for patients belonging to the MCR and AFAP groups harbouring specific genotypes for SNPs in CD36 to initiate screening/treatment for FAP at much earlier (MCR) and much later (AFAP) ages than the norm in today’s clinical practice. The findings need to be verified in an independent FAP patient cohort.

中文翻译：

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CD36 - 家族性腺瘤性息肉病疾病表型的合理修饰符

背景家族性腺瘤性息肉病（FAP）是一种以结肠和直肠息肉病为特征的早发性结直肠癌（CRC）的遗传易感性。动物模型一直表明修饰基因在确定疾病表型中的作用，但尚未在人群中得到证实。在 FAP 的 MIN 小鼠模型中，已提出分化簇 36 (CD36) 的小鼠同源物作为疾病的修饰物。已在 275 名 FAP 患者中研究了 CD36 中的 rs1049673、rs1761667 和 rs1984112，以确定它们是否与息肉病的年龄或发病风险有关。结果结果显示，属于重度 FAP 组（突变簇区域 (MCR) 中含有腺瘤性结肠息肉病 (APC) 变异体）的患者的息肉病诊断年龄显着降低，而减毒家族性腺瘤性息肉病 (AFAP) 患者的诊断年龄高SNP rs1761667 和 rs1984112 组。结论该研究为属于 MCR 和 AFAP 组的患者提供了证据，这些患者在 CD36 中具有特定 SNP 基因型，可以在比正常年龄更早 (MCR) 和更晚 (AFAP) 的年龄开始筛查/治疗 FAP在今天的临床实践中。这些发现需要在独立的 FAP 患者队列中进行验证。