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. 2014 Nov;33(11):556–568. doi: 10.5732/cjc.014.10170

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]