CYP21A2 , 21-hydroxylase and SRD5A2

#1

Dear All,

I would like to ask you to post here your results -if you have your DNA analysed- to check for the pathogenic rs7755898 , with ‘T’ being the risk allele.

CYP21A2 is important because it is related to adrenal hyperplasia but also with SRD5A2 (5-alpha reductase 2) as seen here:

This SNP has quite a small fequency: 0.25%

Thank you in advance

#2

Not sure I’ve done this right, but ctrl+f-ed results for “7755898” and none came up.

#3

It has not being analyzed i believe

1 Like
#4

False alarm everyone, this SNP has a lot of miscalls if your data is from 23andme.

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#5

Same as @jinstewart - I didn’t see that gene in my 23andme results.

#6

@mariovitali, thanks for catching this early and relaying the information.

Found this on a search of the particular SNP in question:

https://www.snpedia.com/index.php/Rs7755898

This SNP is supposed to serve as a marker for the Q318X null allele of the 21-hydroxylase gene. This would generally be associated, when homozygous, with the most severe form of congenital adrenal hyperplasia (salt wasting). However, a random survey of 10 publicly uploaded genomes showed all 10 to be carriers. This is well out of Hardy-Weinberg equilibrium, making the accuracy of this SNP as reported by 23andme suspect. Positive results should be clinically correlated and verified in cooperation with your health care provider.

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#7

No problem, Thank you for providing more information. However i still do believe that CYP21A2 is of interest. Please have a look at the following post: