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To identify HLA-B*15 subtypes distribution in Han population in Beijing, People’s Republic of China, 826 unrelated healthy individuals were typed using the polymerase chain reaction-sequence-based typing method. Within the 246 HLA-B*15 positive individuals, 29 HLA-B*15 alleles were identified, the most predominant of which is B*1501 (40.07%), followed by B*1502 (12.87%), B*1511 (12.87%), B*1518 (9.19%) and B*1532 (3.31%). The distribution of HLA-B*15 subtype frequencies was compared between the Beijing Han, eight other Chinese ethnic minorities and six Chinese populations covering the mainland of China, Taiwan, Hong Kong and Singapore. A neighbor-joining phylogenetic tree was constructed and revealed that the Beijing Han population clustered into the northern populations group and had a closer relationship with northern Han and Hui than with southern Han or other ethnic minorities. These results thus provide useful information that can be used in anthropology, selection for bone marrow transplantation as well as in disease-association study, such as in carbamazepine (CBZ)-induced Stevens–Johnson syndrome and toxic epidermal necrolysis. [ABSTRACT FROM AUTHOR]

Background: Genetic susceptibility is associated with nasopharyngeal carcinoma (NPC). We previously identified rare variants potentially involved in familial NPC and common variants significantly associated with sporadic NPC., Methods: We conducted targeted gene sequencing of 20 genes [16 identified from the study of multiplex families, three identified from a pooled analysis of NPC genome-wide association study (GWAS), and one identified from both studies] among 819 NPC cases and 938 controls from two case-control studies in Taiwan (independent from previous studies). A targeted, multiplex PCR primer panel was designed using the custom Ion AmpliSeq Designer v4.2 targeting the regions of the selected genes. Gene-based and single-variant tests were conducted., Results: We found that NPC was associated with combined common and rare variants in CDKN2A/2B ( P = 1.3 × 10 -4 ), BRD2 ( P = 1.6 × 10 -3 ), TNFRSF19 ( P = 4.0 × 10 -3 ), and CLPTM1L/TERT ( P = 5.4 × 10 -3 ). Such associations were likely driven by common variants within these genes, based on gene-based analyses evaluating common variants and rare variants separately (e.g., for common variants of CDKN2A/2B, P = 4.6 × 10 -4 ; for rare variants, P = 0.04). We also observed a suggestive association with rare variants in HNRNPU ( P = 3.8 × 10 -3 ) for NPC risk. In addition, we validated four previously reported NPC risk-associated SNPs., Conclusions: Our findings confirm previously reported associated variants and suggest that some common variants in genes previously linked to familial NPC are associated with the development of sporadic NPC., Impact: NPC-associated genes, including CLPTM1L/TERT, BRD2 , and HNRNPU , suggest a role for telomere length maintenance in NPC etiology., (©2019 American Association for Cancer Research.)

To identify HLA-B*15 subtypes distribution in Han population in Beijing, People's Republic of China, 826 unrelated healthy individuals were typed using the polymerase chain reaction-sequence-based typing method. Within the 246 HLA-B*15 positive individuals, 29 HLA-B*15 alleles were identified, the most predominant of which is B*1501 (40.07%), followed by B*1502 (12.87%), B*1511 (12.87%), B*1518 (9.19%) and B*1532 (3.31%). The distribution of HLA-B*15 subtype frequencies was compared between the Beijing Han, eight other Chinese ethnic minorities and six Chinese populations covering the mainland of China, Taiwan, Hong Kong and Singapore. A neighbor-joining phylogenetic tree was constructed and revealed that the Beijing Han population clustered into the northern populations group and had a closer relationship with northern Han and Hui than with southern Han or other ethnic minorities. These results thus provide useful information that can be used in anthropology, selection for bone marrow transplantation as well as in disease-association study, such as in carbamazepine (CBZ)-induced Stevens-Johnson syndrome and toxic epidermal necrolysis.