POLYMORPHISMS OF DRUG TRANSPORTERS AND CLINICAL RELEVANCE - Drug Transporters: Molecular Characterization and Role in Drug Disposition - page 640

TABLE 21.2. ( Continued )

HUGO Outcome

Name SNP Population Marker Effect Ref.

Intron 1, − 41G > A,
− 145G > C,
− 129C > T, 1236C > T,
2677G > T/A,
3435C > T, 4036G > A

206 Chinese patients Parkinson's disease 1236, 2677, 3435 genotypes

associated with Parkinson's
disease; 2677T and 3435T
associated with late onset

207

5 UTR SNP, − 129T > C,
5 intronic SNPs,
1236C > T, 2677G > T,
3435C > T

144 UC, 163 CD patients Refractory CD, CD, UC 1236T/2677T/3435T (and two

intronic SNPs in LD with
this haplotype) alleles
associated with ↑ risk for
refractory CD and UC
(significant only as
haplotype)

162

Intronic SNP rs3789243
(intron 3)

249 UC, 179 CD patients UC, CD rs3789243 G allele associated

with susceptibility to UC
but not CD

171

Promoter, + 8T > C 139 patients Osteogenic sarcoma

susceptibility

+ 8CT genotype more
frequent in patients than in
controls

208

ABCB1,
ABCC2

1249G > A (ABCC2) 14 brain tissue samples Protein expression 1249 associated with different

labeling; no effect of
MDR1 polymorphisms on
Pgp expression

209

ABCB11 4 nonsense mutations; 6

missense mutations

PFIC families PFIC susceptibility Mutations associated with

PFIC

114