Familial sarcoidosis in Finland and Hokkaido, Japan–a comparative study

Pietinalho, Anne; Ohmichi, Mitsuhide; Hirasawa, Motohiro; Hiraga, Y; Ab, Löfroos; Selroos, Olof

doi:10.1053/rmed.1999.0579

Cited by 122 publications

(132 citation statements)

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“…In this Irish study, 9.6% of index cases were found to have at least one sibling with sarcoidosis. In a comparative study in Finland and Hokkaido, Japan, prevalence of familial sarcoidosis was comparable, being 3.6±4.7% in Finland and 2.9±4.3% in Hokkaido [35], in spite of the marked difference of overall prevalence of the disease between the two regions (28.2 versus 3.7 per 100,000, respectively) [15].…”

Section: Familial Aggregation Of Sarcoidosismentioning

confidence: 91%

“…yr -1 for males and 6.3 for females [13], whereas an annual all-race incidence rate of 4.8 per 100,000 persons was estimated in a Northwest US population [14]. In a comparative study, the prevalence of sarcoidosis in Finland was 28.2 per 100,00 and 3.7 per 100,000 in Japan (Hokkaido area) [15]. Studies in homogeneous areas have shown marked racial variations.…”

Section: Relationship Between Genetic and Environmental Factors Affecmentioning

confidence: 99%

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Genetic aspects in sarcoidosis

Luisetti¹,

Beretta²,

Casali³

2000

Eur Respir J

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Sarcoidosis is an immune-mediated, multiorgan, granulomatous disorder thought to be triggered by an intricate combination of environmental and genetic factors. Two robust lines of evidence support the hypothesis of a genetic component in the pathogenesis of sarcoidosis: racial variation in its epidemiology and familial clustering of cases. The relationship between epidemiology and environmental factors affecting variations in sarcoidosis incidence/prevalence and presentation are reviewed, as well as strategies to be pursued in the search for susceptibility genes for the disorder.Pathogenic processes leading to sarcoid granuloma formation and maintenance have prompted investigators interested in the genetics of sarcoidosis to focus mainly on major histocompatibility complex genes, and indeed a remarkable amount of data has been accumulated during the last two decades. Whilst in contrast with some autoimmune disorders a clear association between human leukocyte antigen (HLA) and sarcoidosis is still a controversial issue, there is, however, a general agreement that some HLA genes are related to phenotypic variations of the disease. Some genetic investigators have focused on T-cell receptor genes, immunoglobulin genes, angiotensin converting enzyme gene, chemokine genes and others.From a review of studies performed in different racial and ethnic groups, a reasonable suggestion arises that genetic factors are the major determinant in the racial variations in the epidemiology of the disorder. This assumption is, however, so far limited by lack of studies considering both genetic and environmental factors simultaneously. Eur Respir J 2000; 16: 768±780.

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Section: Familial Aggregation Of Sarcoidosismentioning

confidence: 91%

Section: Relationship Between Genetic and Environmental Factors Affecmentioning

confidence: 99%

Genetic aspects in sarcoidosis

Luisetti¹,

Beretta²,

Casali³

2000

Eur Respir J

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“…Familial sarcoidosis is mostly seen in siblings, then in mother-child relationships, and less frequently in father-child relationships (11,12). Its prevalence is high in monozygotic twins and in the same race, which suggests that the disease has a genetic component (10,14).…”

Section: Discussionmentioning

confidence: 99%

“…There were eight sibling-sibling, three mother-daughter, one mother-son, one father-son, and one cousin-cousin sarcoidosis cases in the study. No difference was found between familial sarcoidosis and non-familial sarcoidosis with regard to clinical presentation and prognosis (11,17). Sarcoidosis is a disease that is often seen in young adolescents and women (18).…”

Section: Discussionmentioning

confidence: 99%

Familial Sarcoidosis: An Analysis of Twenty-Eight Cases

Duman¹,

Sevim²,

Sertçelik³

et al. 2017

Eurasian J Pulmonol

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Objective: Sarcoidosis is a multisystemic disease, exact cause of disease is unknown but it is assumed that genetic predisposition and ethnic factors play a role in etiology. Studies related with familial sarcoidosis is limited and only case reports about familial sarcoidosis is available from our country. We aimed to evaluate the prevelance of familial sarcoidosis and clinical findings of cases with familial sarcoidosis. Methods:We retrospectively documented file records of 678 patients diagnosed with sarcoidosis and followed up in outpatient clinic of sarcoidosis from January 1996 to February 2016. 28 familial sarcoidosis cases in 14 families were enrolled into the study. Their demographic findings, family relationship, symptoms, laboratory and pulmonary function test results, radiological apperances, diagnostic methods, treatments were recorded.Results: Twenty-eight sarcoidosis patients out of 678 reported as familial cases, giving a prevelance of familial sarcoidosis as 4%. There were 8 sarcoidosis sib, 4 sarcoidosis mother-child, 1 sarcoidosis father-child and 1 sarcoidosis cousin relationship. Female/male ratio was 1.8, mean age of the study population was 43, most freguent symptoms were cough and dyspnea, stage 2 was mostly seen according to chest X-ray, most common CT appearance was mediastinal lymphadenopathy and mediastinoscopy was the most freguent diagnostic method. Conclusion:This study is important to lead interrogation of family in patients with suspected sarcoidosis and future studies investigating familial aggregation in sarcoidosis.

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“…Following the first description of 2 German sisters with sarcoidosis, the studies examining the familial clustering of the disease in various populations have reported 2.7%-17% of index cases with another affected family member (3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%