Marazita M L, Lu H, Cooper M E, Quinn S M, Zhang J, Burmeister J A, Califano J V, Pandey J P, Schenkein H A, Tew J G
Cleft Palate-Craniofacial Center, Department of Oral and Maxillofacial Surgery, University of Pittsburgh, Pennsylvania 15261, USA.
Am J Hum Genet. 1996 May;58(5):1042-9.
Summary : The aim of this study was to determine whether there was evidence for a genetic component in the immune response as measured by IgG2 levels. The study was motivated by our studies of early-onset periodontitis (EOP), a group of disorders characterized by rapid destruction of the supporting tissues of the teeth in otherwise healthy individuals. EOP has two subforms, localized juvenile periodontitis (LJP) and a generalized form (G-EOP). IgG2 levels are elevated in LJP but not G-EOP individuals; and African-American IgG2 levels are higher than Caucasian levels regardless of EOP status. IgG2 levels were determined in 123 EOP families and in 508 unrelated non-EOP control individuals. Segregation analysis under the regressive model approach of Bonney was used to analyze IgG2 levels for evidence of major locus segregation. After adjusting for LJP status, race, sex, and age, the best fitting model was an autosomal codominant major locus model (accounting for approximately 62% of the variance in IgG2), plus residual parent/offspring and spousal correlations. Smoking and GM23 are also known to affect IgG2 levels. If additional adjustments are made for smoking and GM23, the best-fitting model is still a codominant major locus but with no significant residual correlations.
本研究的目的是确定是否有证据表明免疫反应中存在由IgG2水平衡量的遗传成分。该研究的动机源于我们对早发性牙周炎(EOP)的研究,EOP是一组以牙齿支持组织在原本健康的个体中快速破坏为特征的疾病。EOP有两种亚型,局限性青少年牙周炎(LJP)和一种广泛型(G-EOP)。LJP个体的IgG2水平升高,但G-EOP个体则不然;并且无论EOP状态如何,非裔美国人的IgG2水平都高于白种人。在123个EOP家庭和508名无关的非EOP对照个体中测定了IgG2水平。采用Bonney回归模型方法进行分离分析,以分析IgG2水平是否存在主要基因座分离的证据。在对LJP状态、种族、性别和年龄进行调整后,最佳拟合模型是常染色体共显性主要基因座模型(解释了IgG2中约62%的方差),加上残余的亲子和配偶相关性。已知吸烟和GM23也会影响IgG2水平。如果对吸烟和GM23进行额外调整,最佳拟合模型仍然是共显性主要基因座,但没有显著的残余相关性。