Genetics Genetics Research
CHROMOSOME 17 SLC46A1 17q11.2 GENE VIEW SLC46A1 · 17q11.2 17q10 17q12 rs80338774 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs80338774 G / A · SLC46A1 · 17q11.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs80338774

Gene: SLC46A1 — Solute Carrier Family 46 Member 1 Chr 17:28400658 17q11.2 3 Prime UTR Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies2

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Global G 0.999993A 0.000007pop=149,160 ↬
African G 0.99998A 0.00002pop=41,426

Studies1

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1

Methotrexate pharmacogenetics in the treatment of rheumatoid arthritis

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PID
For many decades, methotrexate (MXT) has remained the drug of choice in the treatment of rheumatoid arthritis (RA). Unfortunately, a considerable number of patients do not achieve an appropriate therapeutic response. Pharmacogenetics studies do not give usable results regarding differences in MTX response among RA patients. The mechanism of MTX action in RA is not completely understood. We present and discuss data regarding the molecular basis of folate and adenosine pathways, the most obvious MTX targets, to explain possible causes of therapy failure. The molecular basis of the disease could also have an impact on therapy outcomes and in this review we explore this. Finally, we make a short review of available pharmacogenetics study results.

2019 · Biljana Jekic, Nela Maksimovic, Tatjana Damnjanovic

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