Type 1 diabetes is a chronic autoimmune disease in which the pancreas creates little to no insulin, thus the body cannot break down sugars and starches from food to use for energy. Type 1 diabetes accounts for only 5% of all people with diabetes (http://www.diabetes.org/diabetes-basics/type-1/). According to a study in 2012, approximately 1.25 million people in the United States, both children and adults, have type 1 diabetes (http://www.diabetes.org/diabetes-basics/statistics/). My little sister is one of those 1.25 million.
Using GWAS Catalog I identified SNP rs9272346 as a SNP indicating an increased risk of developing type 1 diabetes (PMID 17554300). SNP rs9272346 is located on chromosome 6 at position 32636595 and is intergenic. It is near the HLA-DQA1 gene. It’s p-value is 5x10-134 thus indicating it is significant, however the Q-Q plot does not show that the statistics of the study were good. The major allele is A and the minor allele G. The minor allele frequency is 47.46% according to dbSNP. Individuals who have the genotype AA (the major allele) have a 18.5x risk of developing type 1 diabetes; individuals with AG have a 5.5x risk of developing type 1 diabetes; individuals with GG have a normal risk of developing type 1 diabetes. Greg and Lily Mendel’s genotypes are not reported in the article nor the new 23andme, so I chose a genotype for each of them. Strand sense had no need of change because 23andme, SNPedia and dbSNP all report A and G on the plus strand. If Greg had the genotype AG and Lily had the genotype AA, both would have an increased risk of developing type 1 diabetes, however Lily would have a higher risk than Greg.
I did not consult 23andme for this report except to look for their genotype in the raw data, which did not provide results because of the new update.
For supporting info, download documentation:
rs9272346 and diabetes.docx