The N/A values could not be imputed from the 1000 Genomes Project sohave not been included in the analysis. However, I have checked them all and all have ancestral alleles. This may be of use in the future becauce currntly we don´t know for certain which is the risk allele.
From the results above there are 2 alleles per marker, so of the 127 markers 16 need to be discounted giving 111 useful markers, 222 points. There are markers 118 making a total of 118/222 = 53.15% actual risk alleles. Of the 5000 testees at NG and I was at the 100th percentile risk of mLOY.
These are the 75 detected and suggested risk mLOY variants:
On further analyis I have removed a few variants due to incomplete data given, so now checking 75 with a positive risk and leaving the 50 with little or no effect on mLOY. This gives a small risk change to 46%.
For centuries people have known that on average women live longer than men. Until recently the reasons were unknown. However a possible reason may have been found - some men lose Y chromosome in some blood immune cells, leukocytes. These cells are made in the bone marrow. Some men aged over 80 may have a loss as much as 40%. Men affected with mLOY have an increased risk of developing autoimmune diseases, diabetes, AMD (age related macular degeneration), Alzheimer´s disease as well as various cancers such as prostate and leukemia. This list is growing as further research is carried out. By 2019 Deborah Thompson, et al had identified 156 risk variants after examining the genomes of over 750,000 males of European and Japanese ancestry.
Nebula Genomics (NG) analysed the data from 2000 men in their database. They found a detectable loss of the Y chromosome in approximately 20% of their male study participants. NG gave an estimation in percentiles for that group and they ranked my genetic predisposition to mosaic loss of chromosome Y at 100th percentile.
This is perhaps unsurprising - most of their customers are unlikely to be my age. mLOY increases with age and although not relevant to me, smoking increases the risk even higher.
Y chromosome loss in a cell is the only mosaic loss of any chromosome after the egg is fertilised.
From my 23andme data a few years ago I knew that I had the risk alleles for macular degeneration (AMD)
rs10490924 chr10:12454932 G>T ARMS2 gene has x8.2 risk AMD for TT alleles.
rs11200638 chr10:103122461028 G>A CFH gene has x10 risk AMD for AA alleles. (Estimates).
So far - not a problem. Of course, all is risk - like insurance sometimes may need it or may not; may be a pr oblem but may not. I do not worry about the results. It is what it is.
Some research reports have recently suggested that men aged 60 plus should be screened for mLOY. The main reason given is that loss of the y chromosome white blood cells makes a person vulnerable to diseases mentioned above - due to a lack of immunity. Early detection from such a monitoring service would save lives and in the longer term money.
As mentioned previously I have WGS 30x clinical quality results from Nebula Genomics. They frequently give individualised DNA related research reports. Recently I received my mLOY report:
The right hand column Nebula Genomics gave me their comparative analysis results for my mLOY. The tables opposite gives my breakdown of their data.
When I read from Nebula´s Library that I was at their 100th percentile with a very high genetic predisposition to mosaic loss of chromosome Y I thought, yes, must be one of their oldest clients. But not just that - the data itself shows a high predisposition to inherited mLOY. Many men and women may have simiar results to me. As there is no involvement of the Y chromosome in the production of leukocytes, why do women outlive men by about 5 years?
A number of related articles are appearing on the web:
This article published 12 December 2021 relates to the table opposite:
https://pubmed.ncbi.nlm.nih.gov/34895331
This is the link to the full article: https://cellandbioscience.biomedcentral.com/articles/10.1186/s13578-021-00716-z
This article is technical, but has many interesting points. https://www.karger.com/Article/FullText/508564
This Open Access Cancer Science article from Wiley Online Library is a worthwhie read. https://onlinelibrary.wiley.com/doi/full/10.1111/cas.16072