435:(GWAS). There have been a number of studies looking into various polymorphisms of asthma-associated genes and how those polymorphisms interact with the carrier's environment. One example is the gene CD14, which is known to have a polymorphism that is associated with increased amounts of CD14 protein as well as reduced levels of IgE serum. A study was conducted on 624 children looking at their IgE serum levels as it related to the polymorphism in CD14. The study found that IgE serum levels differed in children with the C allele in the CD14/-260 gene based on the type of allergens they regularly exposed to. Children who were in regular contact with house pets showed higher serum levels of IgE while children who were regularly exposed to stable animals showed lower serum levels of IgE. Continued research into gene-environment interactions may lead to more specialized treatment plans based on an individual's surroundings.
391:. Asp312Asn and Lys751Gln are the two common polymorphisms of XPD that result in a change in a single amino acid. This variation in Asn and Gln alleles has been related to individuals having a reduced DNA repair efficiency. Several studies have been conducted to see if this diminished capacity to repair DNA is related to an increased risk of lung cancer. These studies examined the XPD gene in lung cancer patients of varying age, gender, race, and
413:
is becoming increasingly important to understand the specific mutations involved in the individual's cancer, such as needed to select specific molecular targets such as mutations in various receptors, but also understanding the polymorphisms they inherited which play important roles in diagnosis,
49:
Gene polymorphisms can occur in any region of the genome. The majority of polymorphisms are silent, meaning they do not alter the function or expression of a gene. Some polymorphisms are visible. For example, in dogs the E locus can have any of five different alleles, known as E, E, E, E, and e.
395:. The studies provided mixed results, from concluding individuals who are homozygous for the Asn allele or homozygous for the Gln allele had an increased risk of developing lung cancer, to finding no statistical significance between smokers who have either allele polymorphism and their
1413:
Misra, R Rita; Ratnasinghe, Duminda; Tangrea, Joseph A; Virtamo, Jarmo; Andersen, Mark R; Barrett, Michael; Taylor, Philip R; Albanes, Demetrius (2003). "Polymorphisms in the DNA repair genes XPD, XRCC1, XRCC3, and APE/ref-1, and the risk of lung cancer amongmale smokers in
Finland".
430:
Asthma is an inflammatory disease of the lungs and more than 100 loci have been identified as contributing to the development and severity of the condition. By using the traditional linkage analysis, these asthma correlated genes were able to be identified in small quantities using
53:
A polymorphic variant of a gene can lead to the abnormal expression or to the production of an abnormal form of the protein; this abnormality may cause or be associated with disease. For example, a polymorphic variant of the gene encoding the enzyme
1561:
Baldini, M.; Lohman, I. C.; Halonen, M.; Erickson, R. P.; Holt, P. G.; Martinez, F. D. (May 1999). "A Polymorphism* in the 5' flanking region of the CD14 gene is associated with circulating soluble CD14 levels and with total serum immunoglobulin E".
125:
rather than polymorphisms. However, since polymorphisms may occur at low allele frequency, this is not a reliable way to tell new mutations from polymorphisms. A mutation is a change to an inherited genetic sequence.
66:
at the gene's nucleotide 8590 position encodes a CYP4A11 protein that substitutes phenylalanine with serine at the protein's amino acid position 434. This variant protein has reduced enzyme activity in metabolizing
1608:
Eder, Waltraud; Klimecki, Walt; Yu, Lizhi; von Mutius, Erika; Riedler, Josef; Braun-Fahrländer, Charlotte; Nowak, Dennis; Martinez, Fernando D.; Allergy And
Endotoxin Alex Study Team (September 2005).
46:
within a population. In addition to having more than one allele at a specific locus, each allele must also occur in the population at a rate of at least 1% to generally be considered polymorphic.
620:
Bodmer, J. G.; Marsh, S. G. E.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Hansen, J. A.; Mach, B. (1999-04-01). "Nomenclature for factors of the HLA system, 1998".
137:
nearly all mutations are not passed on to subsequent generations. A mutation may, or may not, be passed on to off-spring (e.g. if is a mutation that happens in some replicating cells
167:, which can be subsequently passed on to future generations, and it is very helpful to be clear when discussing mutations whether it is a somatic mutation or germline mutation.
27:
308:
Many different human disease result from polymorphisms. Polymorphisms also play significant role as risk factors for development of disease. Finally, polymorphisms in
225:(i.e. silent or resulting in some change in function or change in fitness). Polymorphisms are also classified based on whether the change is in the sequence of the
352:
299:
are repeats of 1-6 base pairs of DNA sequence. Microsatellites are commonly used as a molecular markers especially for identifying the relationship between alleles
1258:"Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies"
490:
403:
387:. XPD works by cutting and removing segments of DNA that have been damaged due to things such as cigarette smoking and inhalation of other environmental
319:, proteins involved in drug transport (whether into the body, into protected areas of the body like the brain, or secreted out) as well as in specific
153:
268:
are a single nucleotide changes that happen in the genome in a particular location. The single nucleotide polymorphism is the most common form of
201:
sequence is repeated (both of these are common in parts of DNA that don't directly code for a protein, as are SNPs, but can have major effects on
1451:"ITPA, TPMT, and NUDT15 Genetic Polymorphisms Predict 6-Mercaptopurine Toxicity in Middle Eastern Children With Acute Lymphoblastic Leukemia"
800:"Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: Current and developing technologies"
539:
1140:
1003:
Mills RE, Pittard WS, Mullaney JM, Farooq U, Creasy TH, Mahurkar AA, Kemeza DM, Strassler DS, Ponting CP, Webber C, Devine SE (2011).
1514:
213:
can they spread into a population. Polymorphisms are classified based on what happens at the level of the individual mutation in the
250:
1449:
Moradveisi, Borhan; Muwakkit, Samar; Zamani, Fatemeh; Ghaderi, Ebrahim; Mohammadi, Ebrahim; Zgheib, Nathalie K. (2019-08-27).
1256:
Qin, Qin; Zhang, Chi; Yang, Xi; Zhu, Hongcheng; Yang, Baixia; Cai, Jing; Cheng, Hongyan; Ma, Jianxin; Lu, Jing (2013-11-15).
106:
of human MHC class I and II genes, and it has been estimated that there are 200 variants at the HLA-B HLA-DRB1 loci alone.
79:. A study has shown that humans bearing this variant in one or both of their CYP4A11 genes have an increased incidence of
1101:
798:
Chorley, Brian N.; Wang, Xuting; Campbell, Michelle R.; Pittman, Gary S.; Noureddine, Maher A.; Bell, Douglas A. (2008).
323:
proteins alter the effect of various drugs. This is a rapidly evolving area of drug safety research. Resources such as
98:(MHC) are in fact the most polymorphic genes known. MHC molecules are involved in the immune system and interact with
501:
399:. Research continues to be conducted to determine the relationship between XPD polymorphisms and lung cancer risk.
95:
245:
to amplify the sequence of a gene. Once amplified, polymorphisms and mutations in the sequence can be detected by
1667:
332:
76:
265:
206:
186:
121:
A rule of thumb that is sometimes used is to classify genetic variants that occur below 1% allele frequency as
285:
can also cause polymorphism by inserting themselves in new locations. For example, repetitive elements of the
432:
20:
1115:
233:
of the gene, which can occur at sites that are typically upstream and adjacent to the gene, but not always.
324:
178:
1364:
Liang, Gang; Xing, Deyin; Miao, Xiaoping; Tan, Wen; Yu, Chunyuan; Lu, Wenfu; Lin, Dongxin (2003-07-10).
422:
where toxicity largely depends on polymorphisms in multiple different genes involved in its metabolism.
396:
1209:"The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk"
242:
194:
50:
Varying combinations of these alleles contribute to the pigmentation and patterns seen in dog coats.
663:
241:
Polymorphisms can be identified in the laboratory using a variety of methods. Many methods employ
1610:"Opposite effects of CD 14/-260 on serum IgE levels in children raised in different environments"
88:
1366:"Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population"
451:
209:. All genetic polymorphisms start out as a mutation, but only if they are germline and are not
915:
Sadee, W; Wang, D; Papp, AC; Pinsonneault, JK; Smith, RM; Moyer, RA; Johnson, AD (March 2011).
336:
547:
376:
356:
320:
1269:
282:
198:
8:
134:
110:
1273:
1005:"Natural genetic variation caused by small insertions and deletions in the human genome"
1538:
1509:
1485:
1450:
1300:
1257:
1078:
1053:
1029:
1004:
949:
916:
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832:
799:
772:
737:
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678:
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572:
1427:
1158:
1639:
1631:
1587:
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1543:
1490:
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1431:
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1387:
1346:
1305:
1287:
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1230:
1083:
1034:
989:
954:
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718:
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645:
637:
633:
602:
410:
269:
149:
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1423:
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1220:
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1016:
944:
928:
884:
868:
827:
811:
767:
749:
708:
690:
629:
592:
584:
452:"Genetic polymorphism - Biology-Online Dictionary | Biology-Online Dictionary"
419:
364:
205:). Polymorphisms which result in a change in fitness are the grist for the mill of
138:
68:
43:
1282:
917:"Pharmacogenomics of the RNA World: Structural RNA Polymorphisms in Drug Therapy"
736:
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15).
677:
Karki, Roshan; Pandya, Deep; Elston, Robert C.; Ferlini, Cristiano (2015-07-15).
588:
384:
313:
309:
230:
226:
202:
182:
174:
815:
16:
Occurrence in an interbreeding population of two or more discontinuous genotypes
1662:
1626:
1609:
1183:
360:
296:
246:
1225:
1208:
973:
857:"What is a functional genetic polymorphism? Defining classes of functionality"
754:
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1476:
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1391:
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210:
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mutations there isn't a change in fitness, and the pressures responsible for
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1435:
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1350:
1309:
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1087:
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722:
649:
606:
214:
80:
1020:
932:
525:
1341:
1324:
1069:
375:
Polymorphisms have been discovered in multiple XPD exons. XPD refers to "
286:
249:, either directly or after screening for variation with a method such as
218:
1528:
738:"Defining "mutation" and "polymorphism" in the era of personal genomics"
679:"Defining "mutation" and "polymorphism" in the era of personal genomics"
181:
equilibrium have no impact on the accumulation of silent polymorphisms
872:
388:
380:
316:
72:
1382:
1365:
392:
222:
116:
59:
465:
415:
340:
142:
122:
63:
348:
261:
A polymorphism can be any sequence difference. Examples include:
164:
157:
103:
55:
148:
For example, a mutation may occur in a skin cell as a result of
1510:"Genetic polymorphisms and associated susceptibility to asthma"
1448:
406:
99:
84:
39:
1412:
1325:"ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review"
573:"20-HETE and blood pressure regulation: clinical implications"
156:
which is not properly repaired before the skin cell undergoes
328:
290:
275:
190:
1560:
344:
163:
This is quite distinct from a mutation which occurs during
35:
26:
1564:
American
Journal of Respiratory Cell and Molecular Biology
1054:"Small insertions and deletions (INDELs) in human genomes"
1051:
1002:
797:
914:
571:
Wu CC, Gupta T, Garcia V, Ding Y, Schwartzman ML (2014).
1607:
735:
676:
664:"Genetic Polymorphism and How It Lasts over Generations"
353:
International
Nucleotide Sequence Database Collaboration
1139:
Research, Center for Drug
Evaluation and (2024-02-02).
619:
1507:
1141:"Table of Pharmacogenomic Biomarkers in Drug Labeling"
1102:"Difference Between Minisatellite and Microsatellite"
1052:
Mullaney JM, Mills RE, Pittard WS, Devine SE (2010).
1190:, National Center for Biotechnology Information (US)
540:"E-Locus (Recessive Yellow, Melanistic Mask Allele)"
130:
In unicellular organisms, there isn't a distinction.
278:
consist of insertions or deletions of bases in DNA.
990:"What are single nucleotide polymorphisms (SNPs)?"
491:"Technologic Issues in GWAS and Follow-up Studies"
117:Differences between gene polymorphism and mutation
570:
145:, none of the off-spring will bear the mutation.
1654:
1363:
470:National Human Genome Research Institute (NHGRI)
251:single strand conformation polymorphism analysis
133:In multi-cellular organisms which replicate via
30:Genes which control hair colour are polymorphic.
1322:
1255:
414:prognosis, and treatment, such as treatment of
1614:The Journal of Allergy and Clinical Immunology
566:
564:
345:Kyoto Encyclopedia of Genes and Genomes (KEGG)
1501:
1316:
293:families cause polymorphisms in human genome.
1045:
996:
1508:March ME, Sleiman PM, Hakonarson H (2013).
1184:"GenBank: The Nucleotide Sequence Database"
561:
221:), and what effect the mutation has on the
193:of one or more nucleotides, changes in the
38:is said to be polymorphic if more than one
793:
791:
1625:
1537:
1527:
1515:International Journal of General Medicine
1484:
1466:
1381:
1340:
1299:
1281:
1224:
1077:
1028:
948:
888:
831:
771:
753:
712:
694:
596:
276:Small-scale insertions/deletions (Indels)
1181:
1138:
910:
908:
861:Journal of Psychiatry & Neuroscience
303:
281:Polymorphic repetitive elements. Active
25:
788:
488:
109:Some polymorphism may be maintained by
102:. There are more than 32,000 different
94:Most notably, the genes coding for the
1655:
975:Genetics, Mutations, and Polymorphisms
921:Clinical Pharmacology and Therapeutics
854:
266:Single nucleotide polymorphisms (SNPs)
1603:
1601:
905:
971:
229:protein or in the regulation of the
1206:
13:
1598:
622:European Journal of Immunogenetics
14:
1679:
855:Albert, Paul R. (November 2011).
670:
466:"Genetic Testing Report-Glossary"
236:
71:to the blood pressure-regulating
1329:American Journal of Epidemiology
634:10.1046/j.1365-2370.1999.00159.x
217:(or RNA sequence in the case of
187:variation in a single nucleotide
185:. Most often, a polymorphism is
96:major histocompatibility complex
1554:
1442:
1406:
1370:International Journal of Cancer
1357:
1249:
1200:
1175:
1151:
1132:
1108:
1094:
982:
965:
848:
729:
489:Chanock, Stephen (2017-05-22).
433:genome-wide association studies
77:20-hydroxyeicosatetraenoic acid
1323:Benhamou S, Sarasin A (2005).
1182:Mizrachi, Ilene (2007-08-22),
656:
613:
532:
518:
482:
458:
444:
379:group D" and is involved in a
370:
207:evolution by natural selection
1:
1428:10.1016/s0304-3835(02)00638-9
438:
397:susceptibility to lung cancer
1283:10.1371/journal.pone.0079864
589:10.1097/CRD.0b013e3182961659
7:
816:10.1016/j.mrrev.2008.05.001
10:
1684:
1627:10.1016/j.jaci.2005.05.003
526:"Dog Coat Colour Genetics"
351:, and other parts of the
18:
1455:Frontiers in Pharmacology
1207:Hou, S.-M. (2002-04-01).
755:10.1186/s12920-015-0115-z
696:10.1186/s12920-015-0115-z
425:
1576:10.1165/ajrcmb.20.5.3494
1468:10.3389/fphar.2019.00916
1058:Human Molecular Genetics
256:
19:For other concepts, see
1226:10.1093/carcin/23.4.599
1159:"Genomics and Medicine"
1116:"Polygenic Risk Scores"
355:have become crucial in
189:(SNP), but also can be
89:coronary artery disease
1668:Polymorphism (biology)
383:mechanism used during
337:DNA Data Bank of Japan
31:
1021:10.1101/gr.115907.110
933:10.1038/clpt.2010.314
544:www.animalgenetics.us
377:xeroderma pigmentosum
357:Personalized medicine
321:cell surface receptor
304:Clinical significance
283:transposable elements
191:insertion or deletion
42:occupies that gene's
29:
978:. Landes Bioscience.
972:Bull, Laura (2013).
742:BMC Medical Genomics
683:BMC Medical Genomics
577:Cardiology in Review
404:Peronalized medicine
402:As a cornerstone of
1529:10.2147/IJGM.S28156
1274:2013PLoSO...879864Q
135:sexual reproduction
111:balancing selection
1342:10.1093/aje/kwi018
1188:The NCBI Handbook
1070:10.1093/hmg/ddq400
873:10.1503/jpn.110137
32:
1383:10.1002/ijc.11136
804:Mutation Research
454:. September 2020.
411:Sequence analysis
270:genetic variation
150:ultraviolet light
139:that are not part
1675:
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1605:
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845:
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810:(1–2): 147–157.
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546:. Archived from
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500:. Archived from
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486:
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477:
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420:6-mercaptopurine
365:pharmacogenomics
69:arachidonic acid
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1009:Genome Research
1001:
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913:
906:
853:
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628:(2–3): 81–116.
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510:
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385:DNA replication
373:
314:cytochrome p450
310:drug metabolism
306:
297:Microsatellites
259:
239:
203:gene expression
195:number of times
173:In the case of
152:resulting in a
119:
24:
17:
12:
11:
5:
1681:
1671:
1670:
1665:
1650:
1649:
1620:(3): 601–607.
1597:
1570:(5): 976–983.
1553:
1500:
1441:
1422:(2): 171–178.
1416:Cancer Letters
1405:
1376:(5): 669–673.
1356:
1315:
1268:(11): e79864.
1248:
1219:(4): 599–603.
1213:Carcinogenesis
1199:
1174:
1163:www.genome.gov
1150:
1131:
1120:www.genome.gov
1107:
1093:
1064:(R2): R131–6.
1044:
995:
981:
964:
927:(3): 355–365.
904:
867:(6): 363–365.
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728:
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247:DNA sequencing
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237:Identification
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179:Hardy-Weinberg
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154:thiamine dimer
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15:
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1168:2024-02-17
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554:2017-11-08
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498:Genome.gov
475:2017-11-08
439:References
393:pack-years
381:DNA repair
317:isoenzymes
231:expression
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