title: HLA-DR, HLA-DQ, and TAP genes in familial Hodgkin disease.
abstract: The HLA region has long been implicated in sporadic and familial Hodgkin disease (HD), with recent case-control studies suggesting that HLA class II loci predispose to sporadic nodular sclerosis HD (NSHD). To determine whether this predisposition extends to familial HD, HLA class II loci (DRB1, DQA1, DQB1, DRB3, DRB4, and DRB5) and transporter associated with antigen processing (TAP) loci (TAP1, TAP2) were investigated in 100 members of 16 families with at least 2 confirmed cases of HD. With the use of the transmission disequilibrium test, evidence for linkage disequilibrium with familial HD and, in particular, familial NSHD was obtained for the DRB1*1501-DQA1*0102-DQB1*0602 haplotype, the TAP1 allele encoding Ile at residue 333, and the DRB5-0101 allele. These 3 markers were in linkage disequilibrium and may not represent independent susceptibility regions. Use of a family-based approach excludes population stratification as an explanation for these findings.
authors.affiliation: Genetic Epidemiology Branch and the Laboratory of Pathology, National Cancer Institute, Bethesda, MD 20892-7236, USA.
authors.forename: Lea C
authors.initials: LC
authors.lastname: Harty
authors.forename: Albert Y
authors.initials: AY
authors.lastname: Lin
authors.forename: Alisa M
authors.initials: AM
authors.lastname: Goldstein
authors.forename: Elaine S
authors.initials: ES
authors.lastname: Jaffe
authors.forename: Mary
authors.initials: M
authors.lastname: Carrington
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Tucker
authors.forename: William S
authors.initials: WS
authors.lastname: Modi
mesh_terms: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D005260:Female; D005787:Gene Frequency; D005802:Genes, MHC Class II; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D006684:HLA-DR Antigens / Q000235:genetics*; D006689:Hodgkin Disease / Q000235:genetics* / Q000276:immunology; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male
chemical_list: D000071181:ATP Binding Cassette Transporter, Subfamily B, Member 2; D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; C073119:TAP1 protein, human; C071692:TAP2 protein, human