Table 3. Familial and case-control genomic studies in NPC.
Study type | Location | Details | Results |
Familial | Guangzhou | 20 families 382 microsatellite markers covering 22 auto- somes with average marker density of 10 cM |
Linkage to chromosome (chr) 4p15.1-q12 (14.21 cM)[128] |
Familial | Hunan | 18 families 20 microsatellite markers from chr 4p15-q12 (5), chr 3p (8), chr 9p (7) |
Linkage to chr 3p21.3-21.2 (13.6 cM)[129] |
Familial | Guangzhou | 15 families 800 microsatellite markers covering 22 auto- somes with average marker density of 5 cM |
Linkage to chr 5p13 (17 cM)[39] |
Case-control | Guangxi | 350 NPC cases, 634 controls | chr 4p not confirmed[130] |
Study of chr 4p15.1-q12 region with 34 microsatellite markers | |||
Case-control | Malaysia | 111 NPC cases, 260 controls Genome-wide association study (GWAS) with 500,000 tag single nucleotide polymorphisms (SNPs) |
Identified SNP in intron 3 of ITGA9 (integrin, α9) on 3p21 (40 kb)[15] |
Case-control | Taiwan | 277 NPC cases, 285 controls GWAS with 480,000 SNPs; biological role for GABBR1 in NPC |
Linkage to HLA region at 6p21.3 in HLA-A & F/GABBR1 (GABA receptor 1) genes[14] |
Case-control | Guangzhou, Guangxi | 1,583 NPC cases, 1,894 controls GWAS with 464,000 autosomal SNPs |
Linkage to 13q12 (TNFRSF19, TNF receptor superfamily 19), 3q26 (MDS1-EVI1), 9p21 (CDKN2A-CDKN2B) and reconfirm HLA on chr 6[13] |
Case-control | Hong Kong | 360 NPC cases, 360 controls MassArray Sequenom SNP study with 233 SNPs confined to 6p |
GABBR1, HLA-A, and HCG9 were highly associated with NPC in single- marker association studies; microdeletions in GABBR1 and NEDD9 (neural precursor cell expressed developmentally down-regulated 9) were detected[131] |