Nunez G, Moore S E, Ball G V, Hurd E R, Stastny P
J Rheumatol. 1984 Apr;11(2):129-35.
We studied the inheritance of HLA haplotypes in 10 families with more than one member affected with adult onset rheumatoid arthritis (RA). The frequency of DR4 was 81% among these patients. Nine families had DR4 bearing haplotypes and homozygosity for DR4 existed in 4 families. In 6 of these families DR4 positive haplotypes were shared among affected members. All but one of the affected sibs shared at least one haplotype with their index case. Ten percent of the unaffected relatives had rheumatoid factor (RF). HLA-DR4 or associated genes appeared to confer susceptibility for RF production and development of RA. However, these haplotypes were inherited also by many sibs who did not develop any manifestations of disease.
我们研究了10个家庭中成人型类风湿性关节炎(RA)患者的HLA单倍型遗传情况,这些家庭中不止一名成员患病。这些患者中DR4的频率为81%。9个家庭携带DR4单倍型,4个家庭存在DR4纯合性。在其中6个家庭中,患病成员之间共享DR4阳性单倍型。除一名患者外,所有患病同胞与其先证者至少共享一个单倍型。10%的未患病亲属有类风湿因子(RF)。HLA-DR4或相关基因似乎赋予了产生RF和发生RA的易感性。然而,许多未出现任何疾病表现的同胞也继承了这些单倍型。