Rapid typing of DNA sequence polymorphism at the HLA-DRB1 locus using the polymerase chain reaction and nonradioactive oligonucleotide probes

Scharf, Stephen J.; Griffith, Robert L.; Erlich, Henry A.

doi:10.1016/0198-8859(91)90034-7

Cited by 154 publications

(69 citation statements)

References 17 publications

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“…24 HLA-DRB1, -DQA1 and -DQB1 exon 2 alleles were amplified using PCR and typed with sequence-specific oligonucleotide probes. 25,26 Additionally, 157 samples were genotyped using the DeCode Genetics (Reykjavik, Iceland) multiplex set of 63 MHCspecific microsatellite markers spanning a 9.38 Mb and 5.75 cM region encompassing the extended MHC. All microsatellite genotyping was performed at DeCode Genetics with a genotyping call rate of 93.9%.…”

Section: Resultsmentioning

confidence: 99%

Differential effects of DRB10301 and DQA10501-DQB1*0201 on the activation and progression of islet cell autoimmunity

et al. 2007

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Autoimmune diabetes shows extreme variation in age of onset and clinical presentation, although most studies have been done in children with the most severe subtype. Disease risk is strongly associated with HLA-DRB1*0301-DQA1*0501-DQB1*0201 (DR3-DQ2), but it has not been possible to separate the effects of the DR and DQ alleles. We have identified a large Bedouin kindred in which a high prevalence of islet autoimmunity is associated with two different DR3 haplotypes, one carrying the usual DQ2 and the other carrying DQA1*0102-DQB1*0502 (DQ5). Results of prospective follow-up studies indicate that DR3 is associated with the initial activation of islet autoimmunity whereas DQ2 is associated with early-onset and severe clinical disease. The association signals map to a 350-kb interval, thus implicating primary effects for DR3 and DQ2. Overall, our results emphasize the importance of prospective genetic studies that examine the full range of variation in the initiation, progression and expression of autoimmune disease.

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Section: Resultsmentioning

confidence: 99%

Differential effects of DRB10301 and DQA10501-DQB1*0201 on the activation and progression of islet cell autoimmunity

et al. 2007

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“…DNA samples were typed at the HLA class II loci (DRB1, DQA1, DQB1, and DPB1) using the polymerase chain reaction to amplify a locus-specific second exon product, and analyzed using sequence-specific oligonucleotide probes in a dot blot format, as previously described [31][32][33][34][35][36].…”

Section: Hla Typingmentioning

confidence: 99%

HLA class II haplotype associations with inflammatory bowel disease in Jewish (Ashkenazi) and non-Jewish Caucasian populations

Trachtenberg¹,

Yang

Hayes³

et al. 2000

Human Immunology

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Ulcerative colitis (UC) and Crohn's disease (CD) are the clinical entities comprising idiopathic inflammatory bowel disease (IBD). Previous studies on the association of IBD and human leukocyte antigen (HLA) class II genes suggested a role for HLA in this disease. Here we present HLA class II (DRB1, DQB1, DQA1, DPB1) allele and haplotype distributions determined using the polymerase chain reaction and sequence-specific oligonucleotide probe methods. A total of 578 UC and CD Caucasian patients and controls from Jewish (Ashkenazi) and non-Jewish populations was examined. Our previously reported association of DR1-DQ5 with CD was attributable to DRB1*0103. A dramatic association with IBD and the highly unusual DRB1*0103-DQA1*0501-DQB1*0301 haplotype (OR = 6.6, p = 0.036) was found. The more common DR1 haplotype, DRB1*0103-DQA1*0101-DQB1*0501, was also associated with IBD (OR = 3.1, p = 0.014), a result suggesting that interaction between DR and DQ may determine the extent of disease risk. Our previously reported association of DR2 with UC was attributable to DRB1*1502 (OR = 2.6, p = 0.006). At the DPB1 locus, a significant association of DPB1*0401 with CD was observed for the combined populations (OR = 1.85, p = 0.007). These observations indicate that some class II alleles and haplotypes confer susceptibility to both UC and CD, implying common immunogenetic mechanisms of pathogenesis, while others confer risk to only one of these diseases, and illustrate the value of DNA HLA typing in disease susceptibility analyses.

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“…These procedures have been described previously. 19,20 For subtyping, group-specific amplifications of the DR*03, *04, *11, *13 and *14 alleles were performed as previously described. 21,22 …”

Section: Hla Typingmentioning

confidence: 99%

HLA class II alleles associated with infection by HPV16 in cervical cancerin situ

2001

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HLA class II alleles have been associated with an increased risk of developing cervical cancer through infection with oncogenic forms of human papilloma virus (HPV). We have examined the association of variation at the DRB1 and DQB1 loci with HPV16 infection and risk of development of cervical cancer by analysis of 440 cases diagnosed with cervical cancer in situ and 476 age-matched controls in a retrospective casecontrol study. The infection history of a woman was studied by analysis of cervical smears taken at multiple times during a period of up to 27 years (1969 -95 Key words: HLA; HPV; cervical cancerInfection with oncogenic forms of human papillomavirus (HPV) is the major etiologic factor for the development of cervical cancer. Using sensitive detection methods, oncogenic HPVs have been found in almost every cervical tumor. 1,2 However, infection with oncogenic HPVs is common among women having normal cytology, 3 mild lesions regress without intervention and most infections are cleared spontaneously. This implies that factors determining the course of an HPV infection contribute to the risk of developing cervical cancer. Such factors may include the inherent ability to respond to HPV infection.It has been suggested that differences in the immune response to HPV affect whether an HPV infection is cleared or becomes persistent. 4 Given the pivotal role of HLA molecules in the recognition of foreign peptides, several studies have been performed to examine the association of specific HLA alleles with HPV infection status and development of cervical cancer. In 1991, the HLA-DQw3 antigen was reported to be associated with cervical cancer in a German cohort, 4 and later studies in Spanish, 5 British 6 and African-American cohorts 7 showed similar results. Other HLA alleles have also been proposed to increase the risk of cervical cancer: DRB1*1501, 5,8 DRB1*04 and DRB1*11. 9 A number of alleles that are less common in patients relative to controls have also been reported, e.g., DRB1*1301, 8 DQB1*0501 9 and DQB1*0603. 5 An increased risk for HPV16-associated cervical cancer has been reported for the DRB1*1501-DQB1*0602 haplotype, 10 the DQA1*0102-DQB1*0602 haplotype 11 and for the DRB1*0701 allele. 12,13 Finally, an HPV16-specific protective effect for DR13 alleles has been reported. 10 While a direct comparison between these studies is somewhat difficult due to differences in cancer stage studied, laboratory methods and study population, they indicate an effect of HLA alleles on risk of cervical cancer. In our study, we have used a large case-control material to investigate the association of HLA class II alleles with infection by HPV16 and to the risk of developing cervical cancer in situ. Our results show that HLA class II alleles are associated primarily with infection of HPV and only secondarily with cervical cancer. MATERIAL AND METHODS SubjectsThe participants in our study were selected from a cohort of women residing in Uppsala County, Sweden, between 1969 -95. 14 The participants had to fulfill the follow...

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Rapid typing of DNA sequence polymorphism at the HLA-DRB1 locus using the polymerase chain reaction and nonradioactive oligonucleotide probes

Cited by 154 publications

References 17 publications

Differential effects of DRB10301 and DQA10501-DQB1*0201 on the activation and progression of islet cell autoimmunity

Differential effects of DRB10301 and DQA10501-DQB1*0201 on the activation and progression of islet cell autoimmunity

HLA class II haplotype associations with inflammatory bowel disease in Jewish (Ashkenazi) and non-Jewish Caucasian populations

HLA class II alleles associated with infection by HPV16 in cervical cancerin situ

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Rapid typing of DNA sequence polymorphism at the HLA-DRB1 locus using the polymerase chain reaction and nonradioactive oligonucleotide probes

Cited by 154 publications

References 17 publications

Differential effects of DRB1*0301 and DQA1*0501-DQB1*0201 on the activation and progression of islet cell autoimmunity

Differential effects of DRB1*0301 and DQA1*0501-DQB1*0201 on the activation and progression of islet cell autoimmunity

HLA class II haplotype associations with inflammatory bowel disease in Jewish (Ashkenazi) and non-Jewish Caucasian populations

HLA class II alleles associated with infection by HPV16 in cervical cancerin situ

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Product

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Differential effects of DRB10301 and DQA10501-DQB1*0201 on the activation and progression of islet cell autoimmunity

Differential effects of DRB10301 and DQA10501-DQB1*0201 on the activation and progression of islet cell autoimmunity