Genetics Genetics Research
CHROMOSOME 4 QDPR 4p15.32 GENE VIEW QDPR · 4p15.32 4p16 4p14 rs744731 — ~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 rs744731 T / A · QDPR · 4p15.32 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs744731

Gene: QDPR — Quinoid Dihydropteridine Reductase Chr 4:17491220 4p15.32 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.736144C 0.263856TT 0.547018TC/CT 0.378252CC 0.07473pop=600,536 ↬
African T 0.88001C 0.11999TT 0.792117TC/CT 0.175795CC 0.032087pop=51,048
African American T 0.87857C 0.12143TT 0.789679TC/CT 0.177773CC 0.032548pop=49,220
African Others T 0.919C 0.081TT 0.857768TC/CT 0.122538CC 0.019694pop=1,828
Asian T 0.75004C 0.24996TT 0.571322TC/CT 0.357432CC 0.071247pop=13,362
East Asian T 0.76563C 0.23437TT 0.592481TC/CT 0.346306CC 0.061213pop=10,586
European T 0.716147C 0.283853TT 0.513676TC/CT 0.404942CC 0.081382pop=489,468
Latin American 1 T 0.7675C 0.2325TT 0.599044TC/CT 0.336962CC 0.063994pop=7,532
Latin American 2 T 0.82115C 0.17885TT 0.679186TC/CT 0.283931CC 0.036883pop=17,786
Other T 0.75094C 0.24906TT 0.567184TC/CT 0.367502CC 0.065314pop=17,638
Other Asian T 0.6906C 0.3094TT 0.490634TC/CT 0.399856CC 0.10951pop=2,776
South Asian T 0.8033C 0.1967TT 0.650999TC/CT 0.3047CC 0.0443pop=3,702

Studies1

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1

Neurotransmission and bipolar disorder: A systematic family‐based association study

Study ↗ PDF ↗
PID
Neurotransmission pathways/systems have been proposed to be involved in the pathophysiology and treatment of bipolar disorder for over 40 years. In order to test the hypothesis that common variants of genes in one or more of five neurotransmission systems confer risk for bipolar disorder, we analyzed 1,005 tag single nucleotide polymorphisms in 90 genes from dopaminergic, serotonergic, noradrenergic, GABAergic, and glutamatergic neurotransmitter systems in 101 trios and 203 quads from Caucasian bipolar families. Our sample has 80% power to detect ORs ≥ 1.82 and ≥1.57 for minor allele frequencies of 0.1 and 0.5, respectively. Nominally significant allelic and haplotypic associations were found for genes from each neurotransmission system, with several reaching gene‐wide significance (allelic: GRIA1, GRIN2D, and QDPR; haplotypic: GRIN2C, QDPR, and SLC6A3). However, none of these associations survived correction for multiple testing in an individual system, or in all systems considered together. Significant single nucleotide polymorphism associations were not found with sub‐phenotypes (alcoholism, psychosis, substance abuse, and suicide attempts) or significant gene–gene interactions. These results suggest that, within the detectable odds ratios of this study, common variants of the selected genes in the five neurotransmission systems do not play major roles in influencing the risk for bipolar disorder or comorbid sub‐phenotypes. © 2008 Wiley‐Liss, Inc.

2008 · Jiajun Shi, Judith A. Badner, Eiji Hattori, James B. Potash, Virginia L. Willour, Francis J. McMahon, ELLIOT S. GERSHON, Chunyu Liu

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These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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