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NS or HA also have been associated with polymorphisms thought to impact dopamine and serotonin synthesis or metabolism, e.g., catechol-O-methyl transferase (COMT, [25]) and tryptophan hydroxylase-2 gene (TPH2 [26]).
This is also true for disease processes and in particular in complex diseases, such as cancer, heart diseases, hypertension, and sporadic neurodegeneration, which have been associated with polymorphisms of multiple genes in the same or related pathway or caused by a single but different gene within individuals leading to biological changes in the same or related pathway among a given population.
In addition, plasma CRP concentrations have been associated with polymorphisms in the hepatocyte nuclear factor 1A (HNF1A) [ 3- 5].
Catsup In270Del has been associated with polymorphisms in the number of sensory bristles, starvation resistance and locomotor behavior (Carbone et al., 2006).
Subclasses of CFS have been associated with polymorphisms in genes that function in the HPA axis NR3C1, TPH2 and MAOA [ 37- 39].
17– 19 These data now have been extended at the genetic level where SLE and SSc have been associated with polymorphisms in the interferon regulatory factor 5 (IRF5) gene, STAT4, PTPN22 and FAS.
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The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403).
A genome-wide analysis showed that methotrexate clearance was associated with polymorphisms in the organic anion transporter gene SLCO1B1 (P = 2.1 x 10 -11 10 -11
In addition, increased susceptibility to develop PD appears to be associated with polymorphisms in lysosomal genes such as those associated with Gaucher disease and Niemann-Pick disease.
Lately it has become clear that the risk of developing CD is associated with polymorphisms in several genes that are involved in interaction with bacteria.
One school of thought favors the idea that common genetic diseases are associated with polymorphisms that are present in relatively high frequency in a population (common disease/common variant model).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com