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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
Submission date: 2017-09-11
Acceptance date: 2017-10-06
Online publication date: 2018-12-10
Publication date: 2019-10-31
Corresponding author
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.
REFERENCES (38)
1.
Nayak PS, Wang Y, Najrana T, et al. Mechanotransduction via TRPV4 regulates inflammation and differentiation in fetal mouse distal lung epithelial cells. Respir Res. 2015;16:60. https://doi.org/10.1186/s12931....
2.
Nilius B, Voets T. The puzzle of TRPV4 channelopathies. EMBO J. 2013;14(2):152–163. https://doi.org/10.1038/embor.....
3.
Raddatz, N, Castillo, JP, Gonzalez, C, et al. Temperature and voltage coupling to channel opening in transient receptor potential melstatin 8 (TRPM8). J Biol Chem. 2014;289(51):35438––35454. https://doi.org/10.1074/jbc.M1....
4.
Juneja VK, Whiting RC, Marks HM, et al. Predictive model for growth of Clostridium perfringens at temperatures applicable to cooling of cooked meat. Food Microbiol. 1999; 16(4):335–349. https://doi.org/10.1006/fmic.1....
5.
Juneja VK, Huang L, Harshvardhan H, Thippareddi RR. Predictive model for growth of Clostridium perfringens in cooked cured pork. Int J Food Microbiol. 2006;110(1):85–92. https://doi.org/10.1016/j.ijfo....
6.
Du J, Yang X, Zhang L, et al. Expression of TRPM8 in the distal cerebrospinal fluid-contacting neurons in the brain mesencephalon of rats. Cerebrospinal Fluid Res. 2009;6:3. https://doi.org/10.1186/1743-8....
7.
Sabnis S. Human lung epithelial cells express a functional cold-sensing TRPM8 variant. Am J Respir Cell Mol Biol. 2008;39(4):466–474. https://doi.org/10.1165/rcmb.2....
8.
Anderson DA, Nash M, Bevan S. Modulation of the cold-activated channel TRPM8 by lysophospholipids and polyunsaturated fatty acids. J Neurosci. 2007:27(12):3347–3355. https://doi.org/10.1523/JNEURO....
9.
Potapova TA, Babenko VN, Kobzev VF, et al. Associations of cold receptor TRPM8 gene single nucleotide polymorphism with blood lipids and anthropometric parameters in Russian population. Bull Exp Biol Med. 2014;157(6):757–761. https://doi.org/10.1007/s10517....
10.
Liu B, Qin F. Functional control of cold- and menthol-sensitive TRPM8 ion channels by phosphatidylinositol 4,5-bisphosphate. J Neurosci. 2005;25(7):1674–1681. https://doi.org/10.1523/JNEURO....
11.
Chung MK, Caterina MJ. TRP channel knockout mice lose their cool. Neuron. 2007;54(3):345–347. https://doi.org/10.1016/j.neur....
12.
Morgan GK, Sadofsky LR, Morice AH. Genetic variants affecting human TRPA1 or TRPM8 structure can be classified in vitro as ‘well expressed’, ‘poorly expressed’ or ‘salvageable’. Biosci Rep. 2015;35(5): e00255. https://doi.org/10.1042/BSR201....
13.
Ferrandiz-Huertas C, Mathivanan S, Wolf CJ, et al. Trafficking of ThermoTRP Channels. Membranes. 2014:4(3):525–564. https://doi.org/10.3390/membra....
14.
Kozyreva TV, Tkachenko EY, Potapova TA, et al. Single-nucleotide polymorphism rs11562975 of the thermosensitive ion channel TRPM8 gene and human sensitivity to cold and menthol. Fiziol Cheloveka. 2011;37(2):71–76. https://doi.org/10.1134/S03621....
16.
Dusa A, Staerk J, Elliott J, et al. Substitution of pseudokinase domain residue V617 by large non-polar amino acids causes activation of Jak2. J Biol Chem. 2008;283(19):12941––12948. https://doi.org/10.1074/jbc.M7....
17.
Ma X, Vanasse G, Cartmel B, et al. Prevalence of polycythemia vera and essential thrombocythemia. Am J Hematol. 2008;83(5):359–362. https://doi.org/10.1002/ajh.21....
18.
Farrell PM. The prevalence of cystic fibrosis in the European Union. J Cyst Fibros. 2008;7(5):450–453. https://doi.org/10.1016/j.jcf.....
19.
Rozenberg R, Veiga Pereira LD. The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program. Sao Paulo Med J. 2001;119(4):146–149. https://doi.org/10.1590/S1516-....
20.
Basseres DS, Pranke PHL, Sales TSI, et al. A novel shortened B-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. Br J Haematol. 1997;97:579–585. https://doi.org/10.1046/j.1365....
21.
Delaunay J, Randon J, Miraglia Del Giudice E, et al. Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio. Br J Haematol. 1997;96(3):500–506. https://doi.org/10.1046/j.1365....
22.
Park J, Jeong DC, Yoo J, et al. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis. Clin Genet. 2016;90(1):69–78. https://doi.org/10.1111/cge.12....
23.
Delauney J. Molecular basis of red cell membrane disorders. Acta Haematol. 2002;108(4):210–218. https://doi.org/10.1159/000065....
24.
Delaunay J, Nouyrigat V, Proust A, et al. Different impacts of alleles aLEPRA and aLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans Br J Haematol. 2004;127(1):118–122. https://doi.org/10.1111/j.1365....
25.
Genetics Home Reference. US National Library of Medicine. Hereditary spherocytosis. https://ghr.nlm.nih.gov/condit.... Accessed: October 20, 2018.
26.
Hedvicakova P, Vondracek P, Fajkusova L, et al. Analysis of point mutations in the SMN1 gene in Czech SMA patients. Neuromuscul Disord. 2007;17(6):764–900. https://doi.org/10.1016/j.nmd.....
27.
Shin S, Park SS, Huang YS, et al. Deletion of SMA and NAIP genes in Korean Patients with Spinal Muscular Atrophy. J Korean Med Sci. 2000;15(1):93–98. https://doi.org/10.3346/jkms.2....
28.
Liang Y, Chen X, Yu Z, et al. Deletion analysis of SMN1 and NAIP genes in southern Chinese children with spinal muscular atrophy*. J Zhejiang Univ Sci B. 2009;10(1):29–34. https://doi.org/10.1631/jzus.B....
29.
Darin N, Arkblad E, Kroksmark A, et al. Spinal muscular atrophy. The mutational spectra in children from Western Sweden. Neuromuscul Disord. 2007;17(9–10):764–900. https://doi.org/10.1016/j.nmd.....
30.
Kumar R, Atamna H, Zakharov MN, et al. Role of the androgen receptor CAG repeat polymorphism in prostate cancer, and spinal and bulbar muscular atrophy. Life Sci. 2011:88(13–14):565–571. https://doi.org/10.1016/j.lfs.....
31.
Haidera MZ, Moosaa A, Dalala H, et al. Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes. J Biomed Sci. 2001;8(2):191–196. https://doi.org/10.1007/BF0225....
32.
Rekik I, Boukhris A, Ketata S, et al. Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy. Ann Indian Acad Neurol. 2013;16(1):57–61. https://doi.org/10.4103/0972-2....
33.
Parsons DW, McAndrew PE, Monani UR, et al. An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. Hum Mol Genet. 1996:5(11):1727–1732. https://doi.org/10.1093/hmg/5.....
34.
Rochette CF, Surh LC, Ray PN, et al. Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Neurogenetics. 1997:1:141–147. https://doi.org/10.1007/s10048....
35.
Voets T, Owsianik G, Janssens A, et al. TRPM8 voltage sensor mutants reveal a mechanism for integrating thermal and chemical stimuli. Nat Chem Biol. 2007;3(3):174–182. https://doi.org/10.1038/nchemb....
36.
Materljan E, J. Sepcic. Epidemiology of multiple sclerosis in Croatia. Clin Neurol Neurosurg. 2002;104(3):192–198. https://doi.org/10.1016/S0303-....
37.
Harbo HF, Utsi E, Lorentzen R, et al. Low frequency of the disease-associated DRB1*15-DQB1*06 haplotype may contribute to the low prevalence of multiple sclerosis in Sami. Tissue Antigens. 2007;69(4):299–304. https://doi.org/10.1111/j.1399....
38.
Casetta I, Granieri E, Marchi D, et al. An epidemiological study of multiple sclerosis in central Sardinia, Italy. Acta Neurol Scand. 1998;98(6):391–394. https://doi.org/10.1111/j.1600....
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