Pathology Research International / 2012 / Article / Tab 1

Review Article

Genetics of Behçet's Disease

Table 1

Findings supporting the genetic background of Behçet’s disease.

StudiesFindings/associations

EpidemiologyGeographical distribution: from Japan to the Middle East and the Mediterranean basin

Ethnic originPrevalence in Berlin: high in Lebanese and Turks and low in Germans

HLAHLA-B51 (B510101 subtype)

Genome-wide association studies(i) MHC Class I region: HLA-B51 (B5101)
(ii) Non-HLA regions: IL10 region and region between IL23R and IL12RB2
(iii) Chromosome regions: 6q25-26, 12p12–13

Familial aggregation(i) In patients with pediatric onset
(ii) Autosomal-recessive Mendelian mode of inheritance in a pediatric subgroup

Twin concordance studiesHigh concordances in monozygotic twins

Gene polymorphism studiesInconsistent and weak associations, further investigations are needed for definitive conclusions

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