Department of Biochemistry, College of Science, King Saud University, P.O. Box 22452, Riyadh 11495, Saudi Arabia.
Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, P.O. Box 22452, Riyadh 11495, Saudi Arabia.
Genes (Basel). 2023 Feb 26;14(3):592. doi: 10.3390/genes14030592.
Genetic polymorphism in long noncoding RNA (lncRNA) HOTAIR is linked with the risk and susceptibility of various cancers in humans. The mechanism involved in the development of CRC is not fully understood but single nucleotide polymorphisms (SNPs) can be used to predict its risk and prognosis. In the present case-control study, we investigated the relationship between HOTAIR (rs12826786, rs920778, and rs1899663) polymorphisms and CRC risk in the Saudi population by genotyping using a TaqMan genotyping assay in 144 CRC cases and 144 age- and sex-matched controls. We found a significant ( < 0.05) association between SNP rs920778 G > A and CRC risk, and a protective role of SNPs rs12826786 (C > T) and rs1899663 (C > A) was noticed. The homozygous mutant "AA" genotype at rs920778 (G > A) showed a significant correlation with the female sex and colon tumor site. The homozygous TT in SNP rs12816786 (C > T) showed a significant protective association in the male and homozygous AA of SNP rs1899663 (C > A) with colon tumor site. These results indicate that HOTAIR can be a powerful biomarker for predicting the risk of colorectal cancer in the Saudi population. The association between HOTAIR gene polymorphisms and the risk of CRC in the Saudi population was reported for the first time here.
长链非编码 RNA（lncRNA）HOTAIR 的遗传多态性与人类多种癌症的风险和易感性有关。CRC 发病机制涉及的机制尚未完全阐明，但单核苷酸多态性（SNP）可用于预测其风险和预后。在本病例对照研究中，我们通过 TaqMan 基因分型检测，在 144 例 CRC 病例和 144 例年龄和性别匹配的对照中，研究了 HOTAIR（rs12826786、rs920778 和 rs1899663）多态性与沙特人群 CRC 风险之间的关系。我们发现 SNP rs920778 G > A 与 CRC 风险之间存在显著关联（<0.05），并且 SNP rs12826786（C > T）和 rs1899663（C > A）的保护作用。SNP rs920778（G > A）中的纯合突变“AA”基因型与女性和结肠肿瘤部位有显著相关性。SNP rs12816786 中的纯合 TT（C > T）在男性和 SNP rs1899663（C > A）的纯合 AA 中表现出显著的保护相关性与结肠肿瘤部位。这些结果表明 HOTAIR 可能是预测沙特人群结直肠癌风险的有力生物标志物。这是首次报道 HOTAIR 基因多态性与沙特人群 CRC 风险之间的关联。
