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Identification of variants in NFKBIA and association analysis with hepatocellular carcinoma risk among chronic HBV patients
Author(s) -
Hyo Kim Lyoung,
Doo Shin Hyoung,
Lae Park Byung,
Jung Ji Hyun,
Kim Jun Yeun,
Kim Yoon Jun,
Lee HyoSuk
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9146
Subject(s) - biology , single nucleotide polymorphism , haplotype , hepatocellular carcinoma , linkage disequilibrium , genetics , genotyping , gene , microbiology and biotechnology , enhancer , snp genotyping , allele , genotype , gene expression
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‐ κ B, 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 in 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. © 2003 Wiley‐Liss, Inc.