Ashkenazi Jews
From SNPedia
The ethnic and religious group known as the Ashkenazi Jews has been extensively studied for diseases occuring at higher frequencies compared to non-Jewish groups. These diseases include:
- Bloom syndrome
- Breast cancer and ovarian cancer
- Canavan disease
- 2 SNPs are found primarily in Jewish groups: rs28940279 and rs12948217
- Colorectal cancer due to the hereditary nonpolyposis colorectal cancer (HNPCC) gene
- Congenital adrenal hyperplasia (non-classical form)
- Crohn's disease (the NOD2/CARD15 locus appears to be implicated)
- Cystic fibrosis
- Factor XI deficiency, also known as hemophilia C
- Familial dysautonomia, also known as Riley-Day syndrome
- Familial hyperinsulinism
- Fanconi anemia
- Lysosomal storage disease of various types
- Gaucher disease, the most common lysosomal storage disease
- Glycogen storage disease type 1A, also known as von Gierke disease
- rs1801175 is the prevalent mutation
- Mucolipidosis type IV
- Niemann-Pick disease
- Tay-Sachs disease
- Maple Syrup Urine Disease
- The most common mutation is rs28934895, also known as R183P
- Pemphigus vulgaris
- Torsion dystonia
Many of these diseases are inherited in an autosomal recessive manner, meaning that carriers are not affected; a child does not develop the disease unless he or she inherits the risk allele from both parents.
Because some risk alleles appear at a high frequency among Ashkenazi Jews, the American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening (and genetic counseling as necessary) for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, Niemann-Pick disease type A, Fanconi anemia type C, Bloom syndrome, and Gaucher disease.
