Single Nucleotide Polymorphism (SNP)

A Single Nucleotide Polymorphism (SNP) is the most common type of genetic variation in the human genome, involving a change in a single nucleotide base (A, T, C, or G) at a specific position in DNA. SNPs occur approximately once every 300 nucleotides and can be found in both coding and non-coding regions of genes. While many SNPs have no noticeable effect, some influence gene expression, protein function, disease susceptibility, drug response, and individual traits. SNPs play a crucial role in population genetics, genome-wide association studies (GWAS), personalized medicine, and the identification of genetic risk factors for complex diseases.

Single Nucleotide Polymorphism, SNP, Genetic Variation, DNA Sequence Variation, Allelic Variation, Point Mutation, Genome, Genomics, Gene Expression, GWAS, Personalized Medicine, Disease Susceptibility, Pharmacogenomics

#SingleNucleotidePolymorphism #SNP #GeneticVariation #Genomics #DNA #HumanGenetics #MolecularGenetics #GWAS #PrecisionMedicine #Pharmacogenomics #BiomedicalResearch #GeneticResearch

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Genetics role in ovarian cancer

The Medical Minute: Genetics play big role in ovarian cancer In 2024, about 19,680 women in the United States will receive a new diagnosis of ovarian cancer and 12,740 women will die from the disease, said Dr. Shaina Bruce , a gynecologic oncologist at Penn State Cancer Institute . The median age of all patients who develop ovarian cancer is 63. Historically, women at increased risk for ovarian cancer are recommended to have their fallopian tubes and ovaries removed when they have completed having children. Taking that step to protect themselves comes at a heavy price ― surgical menopause. But Bruce said medical science is catching up with ovarian cancer. Studies could lead to new methods for preventative care and the surgery needed to lower risk may be easier than it once was. Below, during Gynecologic Cancer Awareness Month, Bruce discusses the disease and why acting to reduce your risk is worth it. What’s the connection between heredity and ovarian cancer? About 25% of all cases of ...

Multifactorial Genetic Conditions

Multifactorial Genetic Conditions Multifactorial genetic conditions are disorders caused by the combined effects of multiple genes and environmental factors , rather than a single gene mutation . These conditions do not follow classic Mendelian inheritance patterns and instead result from complex gene–environment interactions . Factors such as lifestyle, nutrition, infections, stress, and exposure to toxins can significantly influence disease onset and severity in genetically susceptible individuals. Common examples include diabetes, cardiovascular diseases , neural tube defects, asthma, and many neuropsychiatric disorders. Understanding multifactorial inheritance is essential for risk prediction, preventive medicine, and personalized healthcare strategies. Multifactorial inheritance, polygenic traits, gene–environment interaction, complex diseases, genetic susceptibility, environmental risk factors, non-Mendelian inheritance, disease predisposition, polygenic risk score, precision ...

X chromosome

Gene on the X chromosome may help explain high multiple sclerosis rates in women Brain inflammation may be fueled by a gene on the X chromosome, a new study in mice suggests. And in female mice, who carry two X chromosomes, a diabetes drug called metformin may work to counteract that inflammation. If these findings bear out in later studies, they could help to unravel the long-standing mystery of why women, who have two copies of this inflammation-driving gene, are more prone to certain autoimmune diseases, particularly after menopause. A disparity between the sexes Our bodies are patrolled by immune cells that provide protection against bacteria and viruses, but sometimes, these defenses turn on us. In the autoimmune disorder multiple sclerosis (MS), for instance, the immune system attacks myelin, the fatty insulation surrounding the nerve fibers in the brain and spinal cord. This leads to symptoms such as muscle weakness and difficulty walking, as well issues with memory and thinking...

International Genetics and Genomics of Diseases

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