Hla Class Ii Polymorphism and Iddm Susceptibility in the Greek Population

Khalil, I.; Spyropoulou, M.; Mallet, Christine; Loste, M N; Douay, Corinne; Laperriere, J.; Bartzokas, C. A.; Lepage, V.; Charron, Dominique; Stavropoulos, C.

doi:10.1111/j.1744-313x.1993.tb00110.x

Cited by 23 publications

(18 citation statements)

References 9 publications

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“…This was confirmed in a Danish population by both case control and family-based association studies and in particular by using haplotype analysis [Zamani et al, 1996a]. When the data from different ethnic groups Djoulah et al, 1992;Khalil et al, 1993;Hu et al, 1993;Cucca et al, 1993] are reanalyzed at the aa level, it can be shown ( Table I) that the DR␤1 Lys71+ alleles provide the highest RR for IDDM in the Belgian, Danish, Greek, Taiwanese, and Chinese population, while DQ␤1 Asp57− provides the highest RR for IDDM in Norwegians, Sardinians, and Algerians, indicating involvement of both DR␤1…”

Section: Amino Acid Polymorphisms In the Dr Moleculessupporting

confidence: 56%

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Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes

Zamani

Cassiman

1998

Am. J. Med. Genet.

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Several publications have shown that certain alleles at the HLA-DRB1, -DQA1, and -DQB1 loci are associated with insulin-dependent diabetes mellitus (IDDM). Many of these studies have claimed that HLA-DQalpha1Arg52 and DQbeta1Asp57 showed the strongest association with IDDM, but these results could not be confirmed in different populations. We have recently found that DRbeta1Lys71+ provided major susceptibility to IDDM and that DQbeta1Asp57- had an additive effect to DRbeta1Lys71+ [Zamani et al., 1994a: Eur J Hum Genet 2:177-184]. This was confirmed with haplotype analysis in multiplex IDDM families [Zamani et al., 1996a: J Med Genet 33:899-905]. Therefore, we have reanalyzed the data from the literature on the association of the human leucocyte antigen (HLA) DRB1, DQB1, and DQA1 with IDDM in different ethnic groups to determine whether different amino acids in the antigen binding cleft of HLA class II molecules play a preponderant role in the development of IDDM. The results showed that the DRbeta1Lys71+ allele provided the highest relative risk for IDDM in the Belgian, Danish, Greek Taiwanese, and Chinese population while this was not the case in Norwegians, Sardinians, and Algerians. Indeed, in the Sardinian and Algerian population the DRB1*0401 allele encoding Lys71+ is very rare. Nevertheless, the few positive cases were always in the patient group. We also measured the clinical relevance of the testing for DRbeta1Lys71, DQbeta1Asp57, and DQalpha1Arg52 by calculating a prevalence-corrected positive predictive value (PcPPV), a prevalence corrected negative predictive value (PcNPV), the sensitivity and specificity of these tests. The results indicated that the sensitivity of the test for DRbeta1Lys71+ was lower than for DQalpha1Ag52+ and DQbeta1Asp57-, while testing for DRbeta1Lys71+ was more specific than testing for DQbeta1Asp57- and DQalpha1Arg52+ and that the DRbeta1Lys71+ allele had a higher PcPPV than DQalpha1Arg52+ and DQbeta1Asp57- in all studied populations. These results also showed that testing for DRbeta1LyS71+/+ can be useful in IDDM risk assessment particularly in populations with a high prevalence (P) of IDDM such as the Danish (P[IDDM] = 0.65%). PcPPV for DRbeta1Lys71+/+ was 0.2313 in the Danish, indicating a 23.13% risk for an individual who is homozygous for the genotype DRbeta1Lys71+/+ to develop IDDM. Some mechanisms which might explain the role of these HLA class II alleles in susceptibility to IDDM are discussed.

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Section: Amino Acid Polymorphisms In the Dr Moleculessupporting

confidence: 56%

“…Some authors favor a role for environmental factors, while others see a role for molecular mimicry. [Khalil et al, 1993] , and DQ␤1 Asp57− alleles. The PVs could be higher if they were calculated from case control data, since the HRR is lower than the RR [Zamani et al, 1996 a ].…”

Section: Discussionmentioning

confidence: 99%

Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes

Zamani

Cassiman

1998

Am. J. Med. Genet.

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“…There were clear differences in the major DQB1 risk genotype combinations between the three ethnic groups. The DQB1 * 02/y conferred a high disease risk in the Greek population, a finding that has also been reported in other Mediterranean ethnic groups [18] [19]. In contrast, this combination had a much weaker effect among Hungarians and Finns.…”

Section: Discussionmentioning

confidence: 63%

Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence

Hermann

Bartsocas

Soltész

et al. 2004

Diabetes Metabolism Res

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“…This conclusion is supported by analysis of the linkage between DR and DQ genes, which carry the DQB1*0302 allele (She, 1996). HLA-DRB1*0405, which has been shown to be associated with IDDM in several ethnic groups, carries different DQB1 alleles supporting the independent role of DR in the disease predisposition (Awata et al, 1992;Caillat-Zucman et al, 1992;Rønningen et al, 1992;Khalil et al, 1993;Abdulkadir et al, 1994;Cucca et al, 1995). DRB1*0401 is positively associated with IDDM but DRB1*0403 is not, although they both carry DQB1*0302.…”

Section: Introductionmentioning

confidence: 97%

Hla‐dr4 Subtype and ‐b Alleles in Dqb1*0302‐positive Haplotypes Associated With Iddm

Reijonen

Nejentsev²,

Tuokko

et al. 1997

European Journal of Immunogenetics

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We determined the distribution of DR4 subtypes in 309 DQB1*0302-positive haplotypes found in insulin-dependent diabetes mellitus (IDDM) patients and 70 control haplotypes present only in healthy family members. An increased frequency of DRB1*0401 allele (74.4% vs. 55.7%, P = 0.003) and a decrease of DRB1*0404 allele (23.6% vs. 40.0%, P = 0.0064) was revealed. A further analysis of extended haplotypes demonstrated strong linkages between various B alleles and DRB1*04 subtypes. HLA-B39 was more frequent in DRB1*0404-DQB1*0302-positive IDDM haplotypes compared with control ones (37.0% vs. 14.3%, P = 0.049), suggesting an involvement of the region telomeric to HLA-DRB1 in the susceptibility to IDDM.

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Hla Class Ii Polymorphism and Iddm Susceptibility in the Greek Population

Cited by 23 publications

References 9 publications

Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes

Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes

Genetic screening for individuals at high risk for type 1 diabetes in the general population using HLA Class II alleles as disease markers. A comparison between three European populations with variable rates of disease incidence

Hla‐dr4 Subtype and ‐b Alleles in Dqb1*0302‐positive Haplotypes Associated With Iddm

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