POLYMORPHISMS OF DRUG TRANSPORTERS AND CLINICAL RELEVANCE - Drug Transporters: Molecular Characterization and Role in Drug Disposition - page 633

TABLE 21.2. Summary of Clinical Associations with SLC and ABC Membrane Transporter Polymorphisms a
HUGO

Outcome

Name SNP Population Marker Effect Ref.

SLC22A4 ,
SLC22A5

1672C > T (Leu503Phe),
− 207G > C

625 CD, 363 UC patients CD or UC susceptibility

and severity

1672T/ − 207C haplotype
associated with ↑ CD risk,
earlier age of disease onset,
and ↓ need for surgery

179

241 CD, 247 UC Japanese
patients

CD or UC susceptibility No statistical association 180

120 Caucasian patients CD susceptibility 1672T/ − 207C haplotype

associated with CD

181

769 CD, 186 UC Caucasian
patients

CD or UC susceptibility
and severity

1672T/ − 207C haplotype
associated with penetrating
disease but not
susceptibility

182

679 patients CD or UC susceptibility 1672T/ − 207C haplotype not

associated with CD in the
absence of IBD risk
haplotype; no association
with UC

183

1672T/ − 207C haplotype not
associated with CD and UC
in the absence of IBD risk
haplotype

229 Caucasian children,
502 parents

CD or UC susceptibility 107

503 patients CD susceptibility 1672T/-207C haplotype

associated with CD

46

11 SNPs 909 Caucasian patients RA susceptibility No statistical association 184

SLC22A4 Intronic SNPs slc2F1 918 RA, 507 CD Caucasian CD or RA susceptibility No statistical association 185