Here I present: “Severe Obesity”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 嚴重肥胖。icd10=E66.01
INTRODUCTION.
Obesity is a medical condition, considered by multiple organizations to be a disease, in which excess body fat has accumulated to such an extent that it can potentially have negative effects on health.
People are classified as obese when their body mass index (BMI)—a person’s weight divided by the square of the person’s height—is over 30 kg/m2; the range 25–30 kg/m2 is defined as overweight. Obesity is a major cause of disability and is correlated with various diseases and conditions, particularly cardiovascular diseases, type 2 diabetes, obstructive sleep apnea, certain types of cancer, and osteoarthritis.
Obesity is predominantly a polygenic and multifactorial trait. Genetic variation in some genes have been associated with susceptibility to obesity as a monogenic trait.
There is evidence that obesity can be caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 (ENPP1) gene on cytogenetic location 6q23.2 and genomic coordinates 6:131,808,020-131,895,155. The screenshot of the ENPP1 gene 87,136 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ENPP1 in the 6q23.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:131,125,627 | AKAP7 | A-kinase anchor protein 7 |
| 6:131,573,226 | ARG1 | Arginase, liver |
| 6:131,573,966 | MED23 | Mediator complex subunit 23 |
| 6:131,637,302 | ENPP3 | Ectonucleotide pyrophosphatase/phosphodiesterase 3 |
| 6:131,808,020 | ENPP1 | Ectonucleotide pyrophosphatase/phosphodiesterase 1 |
| 6:131,948,176 | CCN2 | Cellular communication network factor 2 |
| 6:132,296,055 | MOXD1 | Monooxygenase, DBH-like, 1 |
| 6:132,445,867 | STX7 | Syntaxin 7 |
| 6:132,538,277 | TAR3 | Trace amine receptor 3 |
| 6:132,552,672 | GPR102 | G protein-coupled receptor 102 |
