Association study of long non-coding RNA HOTAIR rs920778 polymorphism with the risk of cancer in an elderly Japanese population

• Published in: Gene Vol. 729; p. 144263
• Main Authors: Minn, Aye Ko Ko, Sato, Noriko, Mieno, Makiko Naka, Arai, Tomio, Muramatsu, Masaaki
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01-03-2020
• Subjects: Aged; Aged, 80 and over; Alleles; Autopsy study; Case-Control Studies; Case-control study; Databases, Genetic; Female; Gene Frequency - genetics; Genetic Association Studies; Genetic polymorphisms; Genetic Predisposition to Disease - genetics; Genome-Wide Association Study - methods; HOX transcript antisense RNA; Humans; Japan; Male; Malignancy; Neoplasms - genetics; Polymorphism, Single Nucleotide - genetics; Risk Factors; RNA, Long Noncoding - genetics; RNA, Long Noncoding - metabolism; Single nucleotide polymorphism; Japan; HOTAIR; JG-SNP; lncRNA; GWAS; OR; CI; Case-control study; Malignancy; Genetic polymorphisms; Autopsy study; HOX transcript antisense RNA; HOXD; REST; HOXC; SNP; PRC2; LSD1; CoREST; HWE; LD; Single nucleotide polymorphism
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2019.144263

•HOTAIR is a lncRNA involved in carcinogenesis.•Rs920778 has been implicated in susceptibility for cancers but with controversy.•We assessed the association of HOTAIR SNP rs920778 in consecutive autopsy samples.•Rs920778 does not contribute to cancer susceptibility in a Japanese population.
The HOTAIR gene encodes a long noncoding RNA (lncRNA), which functions in development and tumorigenesis. A single nucleotide polymorphism (SNP) rs920778 in the HOTAIR gene, has been recurrently studied for susceptibility to many cancers including oesophageal cancer, gastric cancer, lung cancer, and hepatocellular carcinoma. Most of these studies were conducted in Chinese populations, and a few in Turkish, Iranian, and Portuguese populations. They mostly give rise to controversial results. It still remains largely unknown whether the cancer risk is conferred in a Japanese population. Here, we established an association study on the representative SNP rs920778, to examine its contribution to the presence of cancer in consecutive autopsy cases in the JG-SNP database. A total of 1373 subjects (mean age 80) including 827 cancer positive and 546 cancer negative subjects were analyzed. As a result, the occurrence of overall cancer was not associated with the rs920778 polymorphism (p > 0.05). For each cancer type, we did not find association except for lung cancer (p = 0.04) which was more likely a by-chance association after multiple testing. Our findings imply that rs920778 polymorphism does not affect total cancer presence and the effect on specific cancer types is also weak in the Japanese population.