Pediatric and adult forms of type I autoimmune hepatitis in argentina: Evidence for differential genetic predisposition

Pando, Marcelo J.; Larriba, J.; Fernández, Gabriela; Fainboim, Hugo; Ciocca, Mirta; Ramonet, Margarita; Badia, I.; Daruich, Jorge; Findor, Jorge; Tanno, Hugo; Cañero-Velasco, Cristina; Fainboim, Leonardo

doi:10.1002/hep.510300611

Cited by 201 publications

(153 citation statements)

References 25 publications

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“…18,19 In Argentine adults and children DRB1*0405 and DRB1*13 have been described as the susceptibility alleles respectively. 20 In our study DRB1*04 and DRB1*13 were associated with pediatric AIH only. In Brazilian population, DRB1*13 and DRB1*03 have been described to be associated with AIH, 21 contrary to this we have previously reported the association of DRB1*03 with PBC/AIH overlap in north Indian population.…”

Section: Discussionmentioning

confidence: 40%

HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population

Kaur

Minz

Anand

et al. 2014

Journal of Clinical and Experimental Hepatology

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Background: Autoimmune hepatitis is a polygenic disorder of unknown etiology, where genetic factors affect the occurrence and clinical phenotype of the disease. It has been reported as a rare disease entity in the Indian subcontinent. This study was undertaken to investigate the association of HLA alleles with autoimmune hepatitis type 1 and type 2 in north Indian population and to analyze if distinct human leukocyte antigen (HLA) alleles help in characterization of the subtypes of autoimmune hepatitis. Methods: Sixty-eight patients with autoimmune hepatitis and 128 healthy controls were recruited in the study. Out of 68 patients, 55 were diagnosed with autoimmune hepatitis type 1 and 13 with autoimmune hepatitis type 2. The patients and the controls were typed for HLA class II alleles by PCR-SSP method. Results: HLA DRB1*04 and DRB1*08 were found to be significantly associated with autoimmune hepatitis type 1 in north Indian population. It was also observed that DRB1*04, DRB1*13 were significantly associated with pediatric autoimmune hepatitis type 1 and DRB1*08 was significantly associated with adult autoimmune hepatitis type 1. DRB1*14 was significantly associated with autoimmune hepatitis type 2. Conclusion: The study indicates that autoimmune hepatitis in north Indian population is associated with HLA alleles that may help to discriminate the subtypes as autoimmune hepatitis type 1 and type 2. The study also highlights the ethnic variations in the Indian subcontinent in context to the genetic association of HLA with autoimmune diseases. ( J CLIN EXP HEPATOL 2014;4:14-18)

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Section: Discussionmentioning

confidence: 40%

HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population

Kaur

Minz

Anand

et al. 2014

Journal of Clinical and Experimental Hepatology

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“…HLA DRB1,04 has been reported to be a significant risk factor in different studies (29)(30)(31)(32)(33)(34)(35)(36)(37)(38). The frequency of A24,9, A26, A32, DRB1,15 was high in our type-1 subjects, the frequency of A26, B51, DRB1,11 was high in our type 2 subjects and the frequency of A32 and DRB1,04 was found high in the undefined type.…”

Section: Discussionsupporting

confidence: 45%

Otoimmün hepatitli olgularımızın irdelenmesi: 11 yıllık deneyimimiz

Gulec¹,

Urgancı²,

Demirel³

et al. 2012

tpa

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Aim:This study aimed to review a series of patients with autoimmune hepatitis in terms of disease pattern, laboratory results, treatment outcomes and adverse effects of treatment. Material and Method: Children with autoimmune hepatitis were retrospectively reviewed. In all patients, viral and metobolic etiologies were excluded. Patients were classified as type-1, type-2 and non-classified type, as well as acute and chronic groups. Treatment response and cessation of treatment were evaluated. Results: Patients were beetween 4 and 17 years old (12±2.68 years). Twenty patients were female, 11 patients were male. Seventeen percent of the patients were in the acute group and 14% were in the chronic group; 18% were in the type-1 group, 6% were in the type-2 group and 7% were in the non-classified type group. Deflazacort was started in all patients. Azothiopurine (2 mg/kg/day) was added in 10 patients with late response at the end of the third month. Deflazacort dosage was decreased at 6-8 weeks intervals and continued at a maintenance dosage of 5 mg/day. After a two-year period complete response was obtained in 24 patients and partial response was obtained in 5 patients. No response was obtained in 2 patients. During the nine-year follow-up period, treatment was ended in 6 patients. In one patient, there was a recurrance in 6 months; the remaining 5 patients are still being followed up without a problem. Despite treatment, portal hypertension was observed in 5 patients. Conclusions: Early diagnosis and treatment of childhood autoimmune hepatitis can decrease the risk of progression to cirrhosis and can increase the survival. Deflazocort can be a choice instead of prednisolone because of its efficiency in treatment and lesser side effects. (Turk Arch Ped 2012; 47: 29-34)

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“…13 Furthermore, we report evidence indicating that pediatric and adult forms of AH may represent different entities with different gene susceptibilities. 14 The present study, designed to investigate whether particular HLA alleles may influence the outcome of children infected with HAV, demonstrated that protracted, but not uncomplicated, forms of HAV infection are associated with the DRB1*1301 haplotype.…”

mentioning

confidence: 68%

“…A previous work from our group provided evidence that pediatric and adult forms of AH may represent different entities with different gene susceptibilities. 14 HLA studies performed by high-resolution techniques on a significant number of patients with type 1 pediatric AH have not been reported in the Northern hemisphere. A recent study reviewing a 20-year experience in the follow-up of pediatric AH in England reported the HLA typing of a very small sample of patients with this disease.…”

Section: Discussionmentioning

confidence: 99%

“…39 This observation is particularly interesting, because we have reported that HLA-DRB1*1302, which differs from HLA-DRB1*1301 by only 1 amino acid, appeared to be protective against the development of pediatric type 1 AH. 14 The exception in Africa seems to be represented by the Bubi population from the island of Bioko (Equatorial Guinea), where DRB1*1301 is present in almost half of their members. 40 It would be of interest to investigate this population for the prevalence of HAV infection and the evolution toward protracted forms of HAV infection or/and AH.…”

Section: Discussionmentioning

confidence: 99%

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Protracted, but not acute, hepatitis A virus infection is strongly associated with HLA-DRB1*1301, a marker for pediatric autoimmune hepatitis

Velasco²,

et al. 2001

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HLA alleles are known to be associated with susceptibility to develop autoimmune hepatitis (AH), and hepatitis A virus (HAV) infection is postulated as a putative trigger for AH. We investigated whether HLA may influence the outcome of the HAV infection by studying 67 children with self-limited and 39 children with protracted forms of this infection. HLA typing of the uncomplicated forms showed no significant increase of any HLA class I or II alleles. In contrast, DRB1*1301 was present in 46.1% of the children with protracted forms (vs. 9.8% in healthy controls; relative risk [RR]: 7.6; 2 ‫؍‬ 33.3; P ‫؍‬ 2 ؋ 10 ؊9 ). In uncomplicated hepatitis, 45% developed anti-smooth muscle antibody (SMA)/actin antibodies, but only 1 child had detectable antibodies after 3 months of infection onset. In contrast, after 1 year, 69% of the patients suffering protracted forms had titers of anti-SMA/actin antibodies that ranged between 1:40 and 1:160. Within their follow-up, 2 patients developed a Hashimoto's thyroiditis, but the remaining patients showed no signs of developing autoimmune hepatitis. We conclude that the DRB1*1301 haplotype is strongly associated with the protracted forms of HAV infection and suggest that the infection allows a sustained release of liver self-antigens. However, other still-unknown susceptibility genes are required for the full development of pediatric AH. (HEPATOLOGY 2001;33:1512-1517

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Pediatric and adult forms of type I autoimmune hepatitis in argentina: Evidence for differential genetic predisposition

Cited by 201 publications

References 25 publications

HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population

HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population

Otoimmün hepatitli olgularımızın irdelenmesi: 11 yıllık deneyimimiz

Protracted, but not acute, hepatitis A virus infection is strongly associated with HLA-DRB1*1301, a marker for pediatric autoimmune hepatitis

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