Familial autoimmunity: maternal parent-of-origin effect in juvenile idiopathic arthritis

Abstract

Juvenile idiopathic arthritis (JIA) is an autoimmune (AI) disease characterized by chronic arthritis in children. Children with JIA have increased prevalence of other AI diseases. Furthermore, relatives of children with JIA have been shown to have an increased prevalence of AI diseases. Our objective was to determine if there were differences in the prevalence of AI diseases among maternal and paternal relatives of children with JIA. Information about AI diseases among all living first and second degree relatives was collected by structured interviews with families of 121 simplex JIA families, 23 multiplex JIA families and 45 control families. Overall the prevalence of AI diseases was significantly increased among maternal second degree relatives of cases compared to that of controls (14% vs. 4.3%; p <0.001). The prevalence of AI diseases among mothers of JIA cases was three times that of fathers (32.3% vs. 11.4%; p <0.0001). The prevalence of AI diseases among all maternal second-degree relatives of children with JIA was significantly higher than that of all paternal second-degree relatives [14% vs. 7.9%; p < 0.004]. Together these results demonstrate that maternal relatives of children with JIA have an increased prevalence of autoimmunity compared to paternal relatives, suggesting that there might be maternal parent of origin effect in JIA.

The pattern of juvenile idiopathic arthritis; a retrospective Egyptian study

“…Our results were nearly equal to those found in other studies. 14,20,27 Most of anemic patients were of polyarticular subtype near to results of Baharbi et al 13 Meanwhile, most of CRP positive cases were of systemic onset subtype as reported by Italian study done by Melano in 2007. 29 The management of JIA aimed to control active symptoms, achieve remission and to prevent joint damage.…”

“…19 Also, the current study reported that most of the cases were from rural areas similar to Quartier et al 10 and Abu elsoud et al 16 Family history of JIA showed high frequency among patients like other studies. 15,20 On contrary, to many studies the numbers of male patients were higher than the females. [11][12][13][14][15][16] However, our results matched Ozdogan et al 21 and El-hemiari et al 22 who reported male predominance.…”

Immunogenetics of juvenile idiopathic arthritis: A comprehensive review

“…This is consistent with the female preponderance of autoimmunity. A follow up study demonstrated that the prevalence of autoimmunity was significantly higher among maternal aunts and maternal grandmothers compared to paternal aunts and paternal grandmothers, suggesting a maternal parent of origin effect in JIA [15]. These findings support the hypothesis that clinically distinct autoimmune phenotypes share common genetic susceptibility factors.…”

How do autoimmune diseases cluster in families? A systematic review and meta-analysis

“…Besides assessing the increased frequency of familial autoimmunity, the search also retrieved studies describing how this familial autoimmunity presents. A predominant inheritance of the autoimmunity trait from mothers was evident in some ADs including SS [62], juvenile idiopathic arthritis [97] and T1D [40]. This is indicative of a preferential transmission of susceptibility alleles from mothers to offspring.…”