No associations between five polymorphisms inCOMTgene and migraine

Abstract

Our results indicate that the five polymorphisms in COMT have no association with migraineurs in Western Japan. The possibility that segments elsewhere in the gene may contain a mutation responsible for modifying the expression of COMT or the activity of the enzyme is important. We cannot conclusively exclude the entire COMT gene from being involved in migraine pathogenesis.

Genetic Variants in SDC3 Gene are Significantly Associated with Growth Traits in Two Chinese Beef Cattle Breeds

“…Numerous studies in the past few decades have clearly shown that synonymous single-nucleotide polymorphisms (SNPs) do not produce altered coding sequences, and therefore they are not expected to change the expression and function of the protein in which they occur (32)(33)(34)(35). However, according to recent research, the synonymous SNPs can affect protein expression by alteration or increase in the stability of the mRNA (38)(39)(40)(41).…”

Predicted activity of UGT2B7, ABCB1, OPRM1, and COMT using full-gene haplotypes and their association with the CYP2D6-inferred metabolizer phenotype

“…Table 1 Haplotype production approach for UGT2B7, ABCB1, OPRM1, and COMT. [48][49][50][51][52][53][54][55][56][57][58] Due to lack of empirical data for each polymorphism, additional damaging or most likely damaging polymorphisms in a gene were assumed to completely eliminate enzyme function. Logistic regression was used to explore possible relationships between the well-characterized CYP2D6-inferred metabolizer phenotype, represented as an activity score (a qualitative measure of phenotype derived from the activity conferred by each * allele an individual carries [54]) and the predicted activity of UGT2B7, ABCB1, OPRM1, and COMT.…”

“…Forensic Science International: Genetics 33 (2018) [48][49][50][51][52][53][54][55][56][57][58] differentiate the relationships between haplotypes; alternatively, the substantial reticulation in the OPRM1 and COMT haplotype networks might also suggest some degree of recombination between the regions of interest. Most major haplotypes in all four genes were observed in all five super-populations while many minor haplotypes were unique to one super-population, namely African (i.e., UGT2B7 haplotypes stemming from UGT2B7-H19).…”

“…Using previously identified genotype-phenotype data [13,17,[29][30][31][51][52][53] and additional polymorphisms characterized by Wendt et al [27], the activities of UGT2B7, ABCB1, OPRM1 and COMT were predicted for each 1000 Genomes Project individual. When grouped by CYP2D6-inferred metabolizer phenotype as a global cohort (2504 self-reported healthy individuals), there was no association detected between metabolizer phenotype and the diplotype-predicted activity of the selected downstream metabolically-relevant enzymes.…”

“…If these observations are correct, the relative abundance of these splice-altering polymorphisms suggests that decreased ATP-dependent efflux efficiency may be the norm for selfreported healthy individuals. For example, rs2235027 has an alternate [48][49][50][51][52][53][54][55][56][57][58] allele frequency of 0.517, 0.516, 0.383, 0.509, and 0.397 in the AFR, AMR, EAS, EUR, and SAS super-populations, respectively [27]. It can be hypothesized that affected, or drug-exposed, individuals possess additional polymorphisms, or are enriched for those identified here, that further alter transporter function and play a role in the idiosyncratic drug response phenotype [60][61][62][63].…”