Fequency distribution of HLA DQ2 and DQ8 in celiac patients and first-degree relatives in Recife, northeastern Brazil

被引：13

作者：

Castro-Antunes, Margarida Maria ^{[1
,3
]}

Crovella, Sergio ^{[2
,4
]}

Cavalcanti Brandao, Lucas Andre ^{[2
]}

Guimaraes, Rafael Lima ^{[2
]}

Farias Almeida Motta, Maria Eugenia ^{[1
]}

Pontes da Silva, Giselia Alves ^{[2
]}

机构：

[1] Fed Univ Pernambuco UFPE, Hlth Sci Ctr, Dept Postgrad Studies Children & Adolescents Hlth, Recife, PE, Brazil

[2] Keiso Asami Immunopathol Lab LIKA, Recife, PE, Brazil

[3] Inst Med Integral Prof Fernando Figueira IMIP, Recife, PE, Brazil

[4] Fed Univ Pernambuco UFPE, Dept Genet, Recife, PE, Brazil

来源：

CLINICS | 2011年 / 66卷 / 02期

关键词：

Celiac disease; HLA; Relatives; Genotyping; Diagnosis; DISEASE; PREVALENCE; RISK; POPULATION; DIAGNOSIS;

D O I：

10.1590/S1807-59322011000200008

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

AIMS : The aim of this study was to evaluate the frequencies of the HLA genotypes DQ2 and DQ8 and the alleles A1(star)05, A1(star) 0201, B1(star)0201 and B1(star)0302 in individuals with celiac disease in Recife, northeastern Brazil. METHODS: HLA DQ2 and DQ8 genotyping was performed for 73 individuals with celiac disease and 126 first-degree relatives with negative transglutaminase serology. The alleles DQA1(star)05, DQA1(star)0201, DQB1(star)02 and DQB1(star)0302 were identified by sequencing using specific primers and the EU-DQ kit from the Eurospital Laboratory, Trieste, Italy and double-checked by the All Set SPP kit (Dynal). RESULTS: Among the 73 cases, 50 (68.5%) had the genotype DQ2, 13 (17.8%) had DQ8, 5 (6.8%) had DQ2 and DQ8, and 5 did not have any of these genotypes. Among the 5 negative individuals, four had the B1(star)02 allele and one did not have any of the alleles studied. B1(star)02 was the most frequent allele in both groups (94% in the patients and 89% in the control relatives). CONCLUSIONS: In this study, celiac disease was associated with the genotypes DQ2 and DQ8. DQ2 predominated, but the distribution of the frequencies was different from what has been found in European populations and was closer to what has been found in the Americas. The high frequencies of the HLA genotypes DQ2 and DQ8 that were found in first-degree relatives would make it difficult to use these HLA genotypes for routine diagnosis of celiac disease in this group.

引用

页码：227 / 231

页数：5

共 47 条

[41] HLA DQ2 HAPLOTYPE, EARLY ONSET OF GRAVES DISEASE, AND POSITIVE FAMILY HISTORY OF AUTOIMMUNE DISORDERS ARE RISK FACTORS FOR DEVELOPING CELIAC DISEASE IN PATIENTS WITH GRAVES DISEASE [J].

Miskiewicz, Piotr ;

Gos-Zajac, Agata ;

Kurylowicz, Alina ;

Plazinska, Teresa Maria ;

Franaszczyk, Maria ;

Bartoszewicz, Zbigniew ;

Kondracka, Agnieszka ;

Pirko-Kotela, Katarzyna ;

Rupinski, Maciej ;

Jarosz, Dorota ;

Regula, Jaroslaw ;

Ploski, Rafal ;

Bednarczuk, Tomasz .

ENDOCRINE PRACTICE, 2015, 21 (09) :993-1000

[42] One third of HLA DQ2 homozygous patients with type 1 diabetes express celiac disease-associated transglutaminase autoantibodies [J].

Bao, F ;

Yu, LP ;

Babu, S ;

Wang, TB ;

Hoffenberg, EJ ;

Rewers, M ;

Eisenbarth, GS .

JOURNAL OF AUTOIMMUNITY, 1999, 13 (01) :143-148

[43] In antibody-positive first-degree relatives of patients with type 1 diabetes, HLA-A*24 and HLA-B*18, but not HLA-B*39, are predictors of impending diabetes with distinct HLA-DQ interactions [J].

Mbunwe, E. ;

Van der Auwera, B. J. ;

Weets, I. ;

Van Crombrugge, P. ;

Crenier, L. ;

Coeckelberghs, M. ;

Seret, N. ;

Decochez, K. ;

Vandemeulebroucke, E. ;

Gillard, P. ;

Keymeulen, B. ;

van Schravendijk, C. ;

Wenzlau, J. M. ;

Hutton, J. C. ;

Pipeleers, D. G. ;

Gorus, F. K. .

DIABETOLOGIA, 2013, 56 (09) :1964-1970

[44] HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer:: Results from the European genetics cluster on celiac disease [J].

Karell, K ;

Louka, AS ;

Moodie, SJ ;

Ascher, H ;

Clot, F ;

Greco, L ;

Ciclitira, PJ ;

Sollid, LM ;

Partanen, J .

HUMAN IMMUNOLOGY, 2003, 64 (04) :469-477

[45] —to: Pani MA, Van Autreve J, Van Der Auwera BJ, Gorus FK, Badenhoop K (2002) Non-transmitted maternal HLA DQ2 or DQ8 alleles and risk of Type I diabetes in offspring: the importance of foetal or post partum exposure to diabetogenic molecules. Diabetologia 45:1340–1343 [J].

R. Hermann ;

R. Veijola ;

I. Sipilä ;

M. Knip ;

H. K. Åkerblom ;

O. Simell ;

J. Ilonen .

Diabetologia, 2003, 46 :588-589

[46] to:: !Pani MA, !Van Autreve J, !Van der Auwera BJ, !Gorus FK, !Badenhoop K (2002) Non-transmitted maternal HLA DQ2 or DQ8 alleles and risk of Type I diabetes in offspring:: the importance of foetal or post partum exposure to diabetogenic molecules.: Diabetologia 45:1340-1343 -: Comment [J].

Hermann, R ;

Veijola, R ;

Sipilä, I ;

Knip, M ;

Åkerblom, HK ;

Simell, O ;

Ilonen, J .

DIABETOLOGIA, 2003, 46 (04) :588-589

[47] Predictive power of screening for antibodies against insulinoma-associated protein 2 beta (IA-2β) and zinc transporter-8 to select first-degree relatives of type 1 diabetic patients with risk of rapid progression to clinical onset of the disease: implications for prevention trials [J].

De Grijse, J. ;

Asanghanwa, M. ;

Nouthe, B. ;

Albrecher, N. ;

Goubert, P. ;

Vermeulen, I. ;

Van Der Meeren, S. ;

Decochez, K. ;

Weets, I. ;

Keymeulen, B. ;

Lampasona, V. ;

Wenzlau, J. ;

Hutton, J. C. ;

Pipeleers, D. ;

Gorus, F. K. .

DIABETOLOGIA, 2010, 53 (03) :517-524

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