Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients

✍ Scribed by Lyoung Hyo Kim; Hyoung Doo Shin; Byung Lae Park; Ji Hyun Jung; Jun Yeun Kim; Yoon Jun Kim; Hyo-Suk Lee

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 160 KB
• Volume: 21
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9146

✦ Synopsis

Human nuclear factor of kappa light chain gene enhancer in B cells inhibitor, alpha (NFKBIA) inhibits the action of NF-κB by forming a heterodimer with NF-κB, and preventing its translocation to the nucleus. We have sequenced a human NFKBIA full gene including -1000bp promoter region to identify its gene polymorphisms as a potential candidate gene for host genetic study of Hepatocellular Carcinoma (HCC). Nine novel single nucleotide polymorphisms (SNPs) and one GAA deletion were identified; two in promoter region (c.-673A>T, c.-642C>T), two in exon 1 (c.78G>A (Leu26Leu), c.81C>T (Asp27Asp)), three i n introns (c.284T>A, c.1952A>G and c.2444C>T) and three in 3 'UTR (c.2710-2712delGAA, c.2758G>A and c.3053G>A). Among ten identified variants, six were selected for larger scale genotyping (n=1,750) for association study based on frequencies and location. Haplotypes, their frequencies and linkage disequilibrium coefficients (|D'|) between SNP pairs were estimated. Allele frequencies of each SNPs and haplotypes were compared between patients with HCC and patients without HCC among HbsAg positives by logistic regression. As a conclusion, we could not find any significant association of NFKBIA variants with development of HCC among chronic hepatitis B patients.