Decoding genetic divergence: TPMT and NUDT15 polymorphisms in north India mirror Caucasian ancestry
Year: 2025
Type: article
Study design: Observational Study
Abstract: sian populations, approximately 90.00% exhibit normal TPMT activity, while 10.00% have intermediate activity and a mere 0.30% lack enzyme function entirely.Conversely, NUDT15 variants, which are infrequent in Caucasians, are notably more common in East Asians, where mutant genotypes necessitate thiopurine dose reductions.Such variability underscores the necessity of region-specific pharmacogenetic data to guide clinical practice.2,5 We evaluated the prevalence of NUDT15 and TPMT polymorphisms in north Indian IBD cohort.This study was approved by the Institutional Review Board of Dayanand Medical College and Hospital (IRB No. DMCH/R & D/2020/23).Written informed consent was waived.Peripheral blood samples (2 mL) were collected in EDTA vials, and DNA was isolated using the QIAamp DNA Mini Kit.Samples (200 µL) were processed with proteinase K, lysis buffer, and ethanol, followed by centrifugation through QIAamp spin columns.The eluted DNA was stored in autoclaved tubes, and quality was verified using a NanoDrop spectrophotometer.Polymerase chain reaction amplification targeted TPMT (c.238 G > C, c.460 G > A, c.719A > G) and NUDT15 polymorphisms (c.415 C > T;R139C).Digestion with restriction enzymes (Hpy10F) and restriction fragment length polymorphism analysis were performed, and products were visualized using agarose gel electrophoresis with ethidium bromide staining under ultraviolet light.3 Among 454 patients (mean age 45.00 ± 29.69 years, 251 males [55.40%]), 1 patient (0.22%) was heterozygous for NUDT15 polymorphism with rest all having wild type gene.Twenty patients (4.40%) had TPMT polymorphisms, out of which 4
Source: Intestinal Research
Authors: Arshdeep Singh, Renu Moti Pandita, Manjeet Kumar Goyal, Barjinderjit K. Dhillon, Vandana Midha, Ajit Sood
Language: English
Subfield: Pharmacology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410477685