A new study published in the journal Nature has found that the sex-specific activity of a gene increases the risk of schizophrenia and lupus,media reported. The study showed that a person’s gender can directly amplify the effects of genetic mutations, providing new insights into how certain diseases occur at different rates in different men and women.
“We all know that women or men get a lot of diseases, but we don’t know why,” said lead author Steven McCarroll of the new study. “This work is exciting because it gives us one of the first insights on this kind of biology. “
The new study focuses on a gene called C4. The gene expresses a protein called the fourth component of the complement, which the body uses to label unnecessary cell fragments to be removed by immune cells. Variants in the C4 gene have previously been found to be a major risk factor for schizophrenia, however, the C4 gene can also have a protective effect on other diseases such as lupus or Sj?gren syndrome.
“The C4 gene variant is associated with this yin and yang in different organ systems with increased susceptibility and susceptibility to reduced susceptibility. McCarroll said. The new study confirmed this yin and yang observation of the C4 gene, finding that those with the least C4 gene were 16 times more likely to develop Sj?gren syndrome and seven times more likely to develop lupus than those with more copies of the C4 gene. On the other hand, people found to have the most C4 genes were 1.6 times more likely to develop schizophrenia.
This observation is convincing enough to provide intriguing clues to the autoimmune origins of lupus and schizophrenia. But the next phase of the study found differences in gender specificity in C4 activities. The study found that men and women were able to express different amounts of C4 protein, although they showed essentially similar genetic characteristics. This means that men generally appear to show higher levels of C4 protein expression than women.
The gender differences in the incidence of the disease, which tracked the data, suggest that this difference in C4 activity may help explain why men are more likely to develop schizophrenia, while women are more likely to develop lupus or Sj?gren syndrome. “Large genetic effects often come from rare variants, whereas common genetic variants generally have less effect. McCarroll said. “C4 gene variants are common, but they have a significant effect on lupus and Sj?gren syndrome. “
The study raises many unanswered questions. For example, it is not clear at this stage how men and women with similar genes actually express different amounts of this protein — are there biological differences between men and women that lead to similar genes expressing different amounts of protein? It is not clear how this gender-specific difference manifests itself in subjects with no sexual traits.
In the short term, McCarroll believes the study has several immediate implications, adding overall to the weight of the gender hypothesis, demonstrating the need to take gender more seriously in new clinical drug trials, to illustrate the complexity of manipulating specific genes in treatment, and to a clearer understanding of the complexity of manipulating specific genes in treatment. “For example, researchers will need to ensure that drugs that lower the complement system do not inadvertently increase the risk of autoimmune diseases,” McCarroll said. “Scientists also need to consider how such drugs may help differently in both male and female patients. “
The new study was published in the journal Nature.