Greetings /sci/Dumbfag here, seeking nerd knowledge regarding genetic inheritance. In respect to SNPs, are heterozygous sets ever associated as the primary protective or risk factors of an expressed trait? Shitty example attempt: SNP rs298734bbq2343 is associated with an increased or decreased risk of autism. Will the homozygous (C;C) or (T;T) pairings always be the determining factor for risk/protection? Or are there exceptions where the heterozygous inheritance (C;T) alleles are the primary driving force behind risk and protection? P.S. I'm sure my question is riddled with misuse of terminology. If any clarification is needed in order to offer insight please let me know and I'll do my best to reword things more coherently.
I'm not sure I understand precisely what you mean by "determining factor of risk/protection", but there are cases where the heterozygous state is better than the homozygous one.Look into sickle cell anemia and heterozygote advantage.https://bio.libretexts.org/Courses/University_of_California_Davis/BIS_2A%3A_Introductory_Biology_(Easlon)/Readings/21.1%3A_Sickle_Cell_Anemia
>>16262047 That link is perfect! Thank you so much anon! What I meant was that sometimes like on platforms such as SNPedia certain alleles are labeled as "risk alleles" >risk allele: in the context of a disease, this is the allele that confers a risk of developing the disease. Most of the time, risk allele = minor allele, as most people will not carry the risk allele. However, in some case, the risk allele can in fact be the major allele.
>>16262430No problem!
>>16262430>>16262047It's worth noting that the context of the genotype must be factored in when considering "risk" and "protection".In the context of sickle cell alleles, the heterozygous configuration confers protection against malaria, but still increases the risk of cardiovascular disease. In places where the risk of malaria is sufficient, the benefit of protection against malaria offsets the increased CVD risk, but in places with low or zero malaria risk, the heterozygous configuration is merely another risk factor to CVD as compared to homogenuous normal red blood cell alleles.
