rs660895

Genome-wide association study identifying genetic variations affecting hepatocellular carcinoma (HCC) susceptibility in Korean populations. Strong associations found with CNV at T-cell receptor loci (TRA@, TRG@; P < 1×10^-15) and SNPs in MHC class II regions (rs9267673, rs2647073, rs3997872). Antigen presentation and processing pathway showed highly significant association (P = 1×10^-11). TPTE2 SNP rs2880301 distinguished HCC from cirrhosis (P = 1.74×10^-12).

This genome-wide association study (GWAS) of the major histocompatibility complex (MHC) region identified 299 SNPs reaching locus-wide significance (P < 2.3 × 10⁻⁵) for anti-citrullinated protein antibody (ACPA)-positive rheumatoid arthritis (RA). After adjusting for HLA-DRB1 shared epitope alleles, HLA-DPB1 emerged as an independent risk locus with rs3117213 showing the strongest association (odds ratio 1.42, 95% CI 1.17–1.73, P = 0.0003). No significant MHC associations were found for ACPA-negative RA, indicating distinct genetic patterns between the two disease subsets.

This case-control study of 855 rheumatoid arthritis patients and 977 controls identified SNP associations in the MHC region using logistic regression across 2,360 markers. After adjusting for HLA-DRB1, 18 markers in 14 genes showed strong associations (P < 10^-4). The final model retained three independent markers: rs4678 in VARS2L (nonsynonymous R/Q at position 1049), rs2442728 upstream of HLA-B, and rs17499655 in HLA-DQA2 5'-UTR, confirming polygenic MHC contribution to RA beyond the shared epitope.