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A model for the identification of polymorphisms responsible for common genetic conditions and its relationship to multiple sclerosis
| 1 | Ohio State University Alumni Association, Columbus, OH, USA |
CORRESPONDING AUTHOR
Submission date: 2017-09-11
Acceptance date: 2017-10-06
Online publication date: 2018-12-10
Publication date: 2019-10-31
Pol. Ann. Med. 2019;26(1):24–29
KEYWORDS
ABSTRACT
Introduction:
Analyzing whether genetic polymorphisms proven responsible for known genetic conditions are equal in incidence to the prevalence of those conditions may demonstrate a means to identify polymorphisms responsible for genetic conditions without a known genetic basis. Performing the same analysis on the temperature sensing region of the TRPM8 receptor in relation to multiple sclerosis (MS) could provide evidence of a genetic basis for MS in the TRPM8 receptor.
Aim:
To test if correlation between the incidence of a genetic polymorphism and the prevalence of a genetic-linked condition in a large population can identify a polymorphism that could be associated with MS.
Material and methods:
Prevalences of genetic conditions with known genetic polymorphism responsible for that condition were matched to the genetic incidence of the polymorphism proven to cause that condition. The model was then used to identify MS candidate polymorphisms in the S4-S5 region of TRPM8. The University of California Southern California Genome Browser was used for this comparison to identify polymorphism incidence rates.
Results and discussion:
Two polymorphisms, Rs28902201 on exon 19 and Rs149328116 on exon 20, were identified as candidate polymorphisms for MS. Other polymorphisms at these loci can contribute to the overall prevalence of MS. Rare variants that have the same genetic effect as the predominant polymorphism responsible for a condition can affect local populations significantly.
Conclusions:
Rs28902201 and Rs149328116 are candidate variants for MS based on their incidence in the population and the similarity of these incidences to MS prevalence rates.
Analyzing whether genetic polymorphisms proven responsible for known genetic conditions are equal in incidence to the prevalence of those conditions may demonstrate a means to identify polymorphisms responsible for genetic conditions without a known genetic basis. Performing the same analysis on the temperature sensing region of the TRPM8 receptor in relation to multiple sclerosis (MS) could provide evidence of a genetic basis for MS in the TRPM8 receptor.
Aim:
To test if correlation between the incidence of a genetic polymorphism and the prevalence of a genetic-linked condition in a large population can identify a polymorphism that could be associated with MS.
Material and methods:
Prevalences of genetic conditions with known genetic polymorphism responsible for that condition were matched to the genetic incidence of the polymorphism proven to cause that condition. The model was then used to identify MS candidate polymorphisms in the S4-S5 region of TRPM8. The University of California Southern California Genome Browser was used for this comparison to identify polymorphism incidence rates.
Results and discussion:
Two polymorphisms, Rs28902201 on exon 19 and Rs149328116 on exon 20, were identified as candidate polymorphisms for MS. Other polymorphisms at these loci can contribute to the overall prevalence of MS. Rare variants that have the same genetic effect as the predominant polymorphism responsible for a condition can affect local populations significantly.
Conclusions:
Rs28902201 and Rs149328116 are candidate variants for MS based on their incidence in the population and the similarity of these incidences to MS prevalence rates.
FUNDING
None.
CONFLICT OF INTEREST
None.
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