title: Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers.
abstract: A minority of individuals infected with the parasite Schistosoma mansoni develops hepatic fibrosis. HLA studies in Egypt and a candidate gene search in a Sudanese population indicate that the host's genetics contribute to disease susceptibility. In an Egyptian community, 32.7% of individuals 11 years and older had significant fibrosis by WHO ultrasound criteria. Linkage to 10 candidate genes was tested using 89 affected sibling pairs from 40 pedigrees in this community. The candidates included genes that initiate fibrosis, participate in collagen synthesis, or control collagen degradation. Two to four single-nucleotide polymorphisms (SNPs) were genotyped per locus, and 188 individuals were genotyped at 48 markers. Model-free modified Haseman-Elston analysis identified linkage to a SNP in the interferon gamma receptor locus (P=0.000001). There was also weak evidence for linkage to the interleukin 13-4 region and tissue growth factor beta 1.
authors.affiliation: Center for Global Health and Diseases, Case Western Reserve University, Wolstein Research Building, Room 4133, 2103 Cornell Road, Cleveland, OH 44106-7286, USA. reb6@po.cwru.edu
authors.forename: Ronald E
authors.initials: RE
authors.lastname: Blanton
authors.forename: Ekram Abdel
authors.initials: EA
authors.lastname: Salam
authors.forename: Amgad
authors.initials: A
authors.lastname: Ehsan
authors.forename: Charles H
authors.initials: CH
authors.lastname: King
authors.forename: Katrina Ab
authors.initials: KA
authors.lastname: Goddard
mesh_terms: D000293:Adolescent; D000328:Adult; D004534:Egypt; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D018793:Interleukin-13 / Q000235:genetics; D008103:Liver Cirrhosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000469:parasitology*; D008109:Liver Diseases, Parasitic / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000469:parasitology; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D017471:Receptors, Interferon / Q000235:genetics*; D012555:Schistosomiasis mansoni / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000469:parasitology; D014463:Ultrasonography; D000096743:Interferon gamma Receptor
chemical_list: D005819:Genetic Markers; D018793:Interleukin-13; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor