Severe Hepatic Fibrosis in Schistosoma mansoni Infection Is Controlled by a Major Locus That Is Closely Linked to the Interferon-γ Receptor Gene

Lethal disease due to hepatic periportal fibrosis occurs in 2%–10% of subjects infected by Schistosoma mansoni in endemic regions such as Sudan. It is unknown why few infected individuals present with severe disease, and inherited factors may play a role in fibrosis development. Schistosoma mansoni...

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Bibliographic Details
Published in:American journal of human genetics 1999-09, Vol.65 (3), p.709-721
Main Authors: Dessein, Alain J., Hillaire, Dominique, Elwali, Nasr Eldin M.A., Marquet, Sandrine, Mohamed-Ali, Qurashi, Mirghani, Adil, Henri, Sandrine, Abdelhameed, Ahmed A., Saeed, Osman K., Magzoub, Mubarak M.A., Abel, Laurent
Format: Article
Language:English
Subjects:
Adolescent
Adult
Biological and medical sciences
Child
Chromosomes, Human, Pair 6 - genetics
Diseases caused by trematodes
Female
Genetic Markers
Genetic Predisposition to Disease
Helminthic diseases
Hepatic fibrosis
Humans
Infectious diseases
Interferon gamma Receptor
Interferon-γ
Life Sciences
Liver Cirrhosis - diagnostic imaging
Liver Cirrhosis - genetics
Liver Cirrhosis - parasitology
Liver Diseases, Parasitic - complications
Liver Diseases, Parasitic - genetics
Liver Diseases, Parasitic - parasitology
Lod Score
Male
Medical sciences
Middle Aged
Odds Ratio
Parasitic diseases
Pedigree
Penetrance
Portal hypertension
Receptors, Interferon - genetics
Schistosomiases
Schistosomiasis
Schistosomiasis mansoni - complications
Schistosomiasis mansoni - genetics
Schistosomiasis mansoni - parasitology
Sex Factors
Sudan
Time Factors
Tropical medicine
Ultrasonography
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Summary:Lethal disease due to hepatic periportal fibrosis occurs in 2%–10% of subjects infected by Schistosoma mansoni in endemic regions such as Sudan. It is unknown why few infected individuals present with severe disease, and inherited factors may play a role in fibrosis development. Schistosoma mansoni infection levels have been shown to be controlled by a locus that maps to chromosome 5q31-q33. To investigate the genetic control of severe hepatic fibrosis (assessed by ultrasound examination) causing portal hypertension, a segregation analysis was performed in 65 Sudanese pedigrees from the same village. Results provide evidence for a codominant major gene, with .16 as the estimated allele A frequency predisposing to advanced periportal fibrosis. For AA males, AA females, and Aa males a 50% penetrance is reached after, respectively, 9, 14, and 19 years of residency in the area, whereas for other subjects the penetrance remains
ISSN:0002-9297
1537-6605
DOI:10.1086/302526