Personal+Genomics+Behind+Endometriosis+Results

=__Results __=

__23 and Me Data: __ In the 23 and me tests, the results of whether or not a woman has elevated risk for endometriosis is based on their individual genotype of alleles correlated with specific variant markers. 23 and me looks at variant markers Rs 2235529 on the WNT4 gene, Rs 10965235 on the CDKN2BAS1 gene, and the Rs 9434741 on the CHD5 for correlation to disease risk for endometriosis. In regards to the variant marker Rs 2235529, women that have a copy of a “T” allele at this site show to have slightly elevated risks for endometriosis (Albertsen, et al., 2013). Women that have two Ts “TT”s at this allele position have shown through research to have a moderate disease risk for endometriosis. Women that have two copies of Cs “CC” at this position have normal disease risk for endometriosis (Albertsen, et al., 2013).

Figure 1: The variant marker data on Rs 2235529 for a sample 23 and me test. ([])

In regards to the variant marker Rs 9434741 on the CHD5 gene, women that have one copy of a “G” at this allele location have slightly lower chances of developing endometriosis (Falconer, et al., 2012). Women who have two copies of a “G” have significant lower disease risk for endometriosis than those with two copies of “A”s (Falconer, et al., 2012). Women that have two copies of “A”s have normal disease risk for endometriosis (Falconer, et al., 2012).

Figure 2: The variant marker data on Rs 9434741 for a sample 23 and me test. ([]).

The next variant marker that 23 and me looks at in a personal genomic test is Rs 10965235 on the gene CDKN2BAS1. Women that have at least one copy of an “A” genotype allele have lower than normal odds of developing endometriosis (Uno, et al., 2010). Women that have two copies of an “A” allele have even lower disease risk for endometriosis and those who have two copies of Cs “CC” genotypes have normal disease risk (Uno, et al., 2010).



Figure 3: The variant marker data on Rs 10965235 for a sample 23 and me test. ([]).

__HapMap Data: __ For the CDKN2BAS1 gene, there is no information listed in the HapMap program. Lastly for ESR1 gene, HapMap does not list that there are genotyped SNPs but there are some that are not genotyped.

Figure 7: A display of HapMap information regarding the ESR1 gene. ([|http://hapmap.ncbi.nlm.nih.gov/cgi-perl/gbrowse/hapmap28_B36/#search]) For the genotyped SNP, Rs 2235529 on the WNT4, there are 11 different populations that have tested for specific alleles.

Figure 5: A display of Hap Map information regarding the different genotypes alleles for the Rs 2235529 for the WNT4 gene. ([|http://hapmap.ncbi.nlm.nih.gov/cgi-perl/gbrowse/hapmap28_B36/#search]).

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">For the CHD5 gene, there are over 60 genotyped SNPs and many that have not been genotyped yet. <span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">Figure 6: A display of HapMap information regarding the CDH5 gene and the genotype SNPs. ([|http://hapmap.ncbi.nlm.nih.gov/cgi-perl/gbrowse/hapmap28_B36/#search]).

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">For the CDKN2BAS1 gene, there is no information listed in the HapMap program. Lastly for ESR1 gene, HapMap does not list that there are genotyped SNPs but there are some that are not genotyped.



<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">Figure 7: A display of HapMap information regarding the ESR1 gene. ([|http://hapmap.ncbi.nlm.nih.gov/cgi-perl/gbrowse/hapmap28_B36/#search])

__<span style="font-family: Arial,Helvetica,sans-serif; font-size: 150%;">Primary Research Article Data: __

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">In a study done by the Seoul National University of Medicine in South Korea, researchers were able to assemble a group of individuals, half diagnosed with endometriosis and half non-affected controls, to perform genetic testing on. The researchers performed genetic tests searching for variations in the genotype distribution of certain SNP variants. The testing showed that there was significant data found in the allele distribution of the genotypes for the Rs 10965235 variant on the CDKN2B-AS gene (Lee, et al., 2014). This research study also looked at the genotypes for the Rs 16826658 near the WNT4 gene.

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%; line-height: 1.5;">In another study conducted by the University of Tokyo, researchers took a deeper look at the genetic components of endometriosis in a population of Japanese women. Of the participants with endometriosis, there was significant data on the Rs 10965235 SNP variant on the CDKN2BAS gene and the Rs 16826658 on the WNT4 gene (Uno, et al., 2010).

<span style="font-family: Arial,Helvetica,sans-serif;"> (I was not able to get permission to post charts and tables from these research articles)

__<span style="font-family: Arial,Helvetica,sans-serif; font-size: 150%;">Gene World Maps Data: __

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">In another study conducted by Erik Corona and the Human Genome Diversity Project, the images below show the world mapping of genetic disease risk for endometriosis. The information is based on 51 different populations of people from around the world. The one variant marker of interest in this study was Rs 10965235.

<span style="font-family: Arial,Helvetica,sans-serif; font-size: 140%;">Figure 8: Gene Mapping for Endometriosis around the world. This image shows the data from different populations and the migration patterns. http://geneworld.erikcorona.com/geneworld/hgdp.html

<span style="display: block; font-family: Arial,Helvetica,sans-serif; font-size: 140%; text-align: center;">Figure 9: Genetic risk for endometriosis based populations of people and their genetic similarities. Based on the variant marker Rs 10965235. <span style="display: block; font-family: Arial,Helvetica,sans-serif; font-size: 140%; text-align: center;">http://geneworld.erikcorona.com/geneworld/world/index.html

=<span style="font-family: Arial,Helvetica,sans-serif; font-size: 150%;">Discussion = =<span style="font-family: Arial,Helvetica,sans-serif; font-size: 150%;">Home =

<span style="display: block; font-family: 'Comic Sans MS',cursive; font-size: 120%; text-align: left;"> <span style="display: block; font-family: 'Comic Sans MS',cursive; font-size: 120%; text-align: left;"> <span style="display: block; font-family: 'Comic Sans MS',cursive; font-size: 120%; text-align: left;"> <span style="display: block; font-family: 'Comic Sans MS',cursive; font-size: 120%; text-align: left;">