After getting my AncestryDNA results, which I found to be interesting, I downloaded the raw DNA data and uploaded anonymously to two sites that compared my DNA with scientific research studies. The information is deleted soon after (takes a lot of server space) and no extra information is collected about me to compare with the results (so they couldn't do anything with them anyway really).
I wouldn't recommend looking at this if you don't want to find out any medical conditions you might be more at risk for. I was curious, so I looked. There were traits including personality and appearance, biochemistry and medical conditions. Raw data can be uploaded from AncestryDNA or 23andMe. Take care with privacy concerns and if you have or want medical or life insurance that might be interested in pre-existing conditions.
Many traits are polygenic (interaction of many genes). This include eye colour. My DNA supports that I am a carrier for blue eyes and likely to have blue-grey eyes (I don't - I have hazel to olive green eyes). I could guess though that I am a carrier for blue-grey eyes as one parent has blue eyes and my son has light grey eyes and light coloured eyes are a recessive trait. A recessive trait only expresses in the absence of a dominant trait (dark brown eyes).
Medical conditions are usually an interaction between genetic predisposition and environmental factors. I already know I am heterozygous for celiac disease (have one copy of a celiac gene) but not everyone with one of the two known genes develops celiac. I was diagnosed celiac over a decade ago.
I uploaded the raw DNA data to two sites: Promethease.com (around $12) and Impute.me (free if wait for several weeks, quicker if donate $5). Both compare Single Nucleotide Polymorphisms (SNPs), which are variations in nucleotides, the building blocks of DNA. This will show up with the name of the SNP (letters and numbers) usually with the letters A, G, C or T as abbreviations for adenine, guanine, cytosine and thymine. Variations can be significant as markers associated with traits and medical conditions.
Promethease looked at each SNP separately with risk factors. Not usually that meaningful on its own but if a trait keeps popping up, it might have significance. It's an enormous report, so one can filter to look at findings from more than one study etc. Studies and information are linked.
This is an example of one of the SNPs from Promethease. I had no idea what Ankylosing Spondylitis was, so looked it up. It's an inflammatory condition resulting fusing of vertebrae which can result in stooped posture (something I have been starting to get). Also inflamed soft tissues like tendons. It still has a low risk overall (0.5%). I will enquire with my doctor about it as I was diagnosed with fibromyalgia years ago, yet had inflammation which wasn't typical for the diagnosis and I get easily strained and sprained soft tissue injuries. There is a gene test for it but my results from the analysis suggest I am heterozygous for it (have one copy of the gene). Homozygous means having both copies for a gene.
Turns out I have two variations for what is known as the MTHFR mutation, which is impairment with metabolising folic acid (a biochemistry issue). I had already suspected this (feel sluggish, depressed if I take anything with folic acid). My doctor told me to avoid supplements containing folic acid and to eat foods containing natural bioavailable folate instead (green vegetables etc). The MTHFR mutation has been associated with bipolar, depression, schizophrenia, autism and migraines (I also have suffered migraines since my teens).
In contrast, impute.me looked at several SNPs together (generally 5 to 100) and compared to research studies, giving a genetic risk score. I thought this was perhaps more useful.
It showed a standard bell curve for each trait. A bell curve has most of the population near the middle, with outliers at the edges. The outliers (under 5% or above 95%) tend to be the areas of interest. Each bell curve is risk compared to another population. Each study is linked so that can take a further look.
I set the search options to look for all studies. There were around half a dozen studies done for genetic markers for bipolar disorder. All of them came back with average risk, except one. This particular study of nine SNPs for Bipolar Disorder with Mood Incongruent Psychosis from 2013 with a sample size of over 10,000 participants came back at genetic risk of 98% higher and 2% lower than the general population. It also lists all the specific SNPs (I haven't listed them here). I am diagnosed with bipolar 1 disorder.
My risk for celiac disease was even higher. Celiac disease and bipolar and depression tend to go together. I started developing symptoms in my late teens but it took years to be diagnosed. This study was from 23 SNPs from a 2010 study with a sample size over 15, 000. My risk was assessed at 99% more and 1% less than the general population (99th percentile). This doesn't mean I have a 99% chance of developing celiac disease. This means that I am more at risk than the general population.
Approximately 30% of the population has genetic susceptibility for celiac disease but only 3% of these develop celiac disease. Indicating factors such as environmental. This is pretty typical for most genetic risks. I definitely feel worse when I consume gluten (physical pain, thyroid problems, gut problems, more depression etc). I've been on a strict gluten-free diet for years now.
Sometimes, the other end of the bell curve is more relevant, depending on what is being looked at. This trait was for a 2018 study 5 SNPs for vitamin D levels with a sample size of over 76,000 participants. My genetic risk score came back 99% lower and 1% higher than the general population. However, the information given said that one needs to consider what the study is for (eg low vitamin levels), so really it's in the reverse.
My vitamin D levels are chronically low and I am prescribed high dose vitamin D supplements. Low vitamin D is associated with all sorts of health conditions including bipolar disorder, depression and celiac disease. Vitamin D is needed for bone health.
I haven't listed all my risk factor results here. I posted some that I felt were relevant to my diagnoses of bipolar disorder and celiac disease (also spelled coeliac disease). Remember that risk factors aren't absolute. There are other factors such as other gene interactions, environment, lifestyle etc which can increase or decrease your risk.
Xanthe finds creative expression including writing and painting to be therapeutic and helps her to manage her diagnoses of bipolar disorder and post-traumatic stress disorder (PTSD).