Here I present: “Hepatic Fibrosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SM2) 肝纤维化。icd10=K74.00
INTRODUCTION.
Hepatointestinal schistosomiasis is caused by 2 species of helminth worms: Schistosoma japonicum, which is prevalent in Asia, and S. mansoni, which is prevalent in Africa and South America. Both worms develop in the host mesenteric system and lay eggs that trigger inflammation in the hepatic periportal space in which they are trapped. Worms live for years, and chronic liver inflammation and significant tissue destruction are therefore common in infected individuals. Tissue repair begins with deposition of extracellular matrix proteins (ECMPs) in the damaged tissues, which are later replaced by normal hepatocytes. In some individuals, ECMPs accumulate in the periportal space, forming fibrosis deposits that reduce blood flow and cause varicose veins. These individuals may die from the subsequent effects of hepatic fibrosis. About 5 to 10% of the 350 million infected individuals develop severe hepatic fibrosis. Development of hepatic fibrosis in schistosome-infected individuals is influenced by a locus SM2 on cytogenetic location 6q22-q23 and genomic coordinates 6:114,200,001-138,300,000. The screenshot of the SM2 gene 24,100,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides SM2 in the 6q22-q23 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:114,055,596 | HS3ST5 | Heparan sulfate-glucosamine 3-sulfotransferase 5 |
| 6:114,200,001 | FEB5 | Febrile seizures, familial, 5 |
| 6:114,200,001 | FIQTL1 | Fasting insulin level quantitative trait locus 1 |
| 6:114,200,001 | IGAN1 | IgA nephropathy, susceptibility to, 1 |
| 6:114,200,001 | SM2 | Hepatic fibrosis due to Schistosoma mansoni |
| 6:115,931,149 | FRK | FYN-related kinase |
| 6:116,100,853 | NT5DC1 | 5′-nucleotidase domain-containing protein 2 |
| 6:116,118,909 | COL10A1 | Collagen X, alpha-1 polypeptide |
| 6:116,249,964 | TSPYL4 | TSPY-like 4 |
| 6:116,254,171 | DSE | Dermatan sulfate epimerase |
