Genetics Genetics Research
CHROMOSOME 1 PRKACB 1p31.1 GENE VIEW PRKACB · 1p31.1 1p32 1p30 rs594631 — ~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 rs594631 A / C · PRKACB · 1p31.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs594631

Gene: PRKACB — Protein Kinase CAMP-Activated Catalytic Subunit Beta Chr 1:84220882 1p31.1 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.73547T 0.26453AA 0.549279AT/TA 0.372391TT 0.07833pop=24,818 ↬
African A 0.5981T 0.4019AA 0.354572AT/TA 0.487041TT 0.158387pop=5,556
African American A 0.601T 0.399AA 0.357517AT/TA 0.486911TT 0.155572pop=5,348
African Others A 0.524T 0.476AA 0.278846AT/TA 0.490385TT 0.230769pop=208
Asian A 0.544T 0.456AA 0.350877AT/TA 0.385965TT 0.263158pop=114
East Asian A 0.52T 0.48AA 0.340909AT/TA 0.363636TT 0.295455pop=88
European A 0.79333T 0.20667AA 0.629192AT/TA 0.328269TT 0.042538pop=17,114
Latin American 1 A 0.654T 0.346AA 0.421053AT/TA 0.464912TT 0.114035pop=228
Latin American 2 A 0.55T 0.45AA 0.329177AT/TA 0.441397TT 0.229426pop=802
Other A 0.705T 0.295AA 0.498891AT/TA 0.412417TT 0.088692pop=902
Other Asian A 0.62T 0.38AA 0.384615AT/TA 0.461538TT 0.153846pop=26
South Asian A 0.637T 0.363AA 0.431373AT/TA 0.411765TT 0.156863pop=102

Studies1

Unread Studies1 ▼
1

Association between PKA gene polymorphism and NTDs in high risk Chinese population in Shanxi.

Study ↗ PDF ↗
OBJECTIVE This study aimed to investigate the single nucleotide polymorphisms (SNPs) of PKA and neural tube defects (NTDs) in Chinese population. METHOD A total of 183 NTDs cases and 200 healthy controls were used in this study. 7 selected single nucleotide polymorphism (SNP) sites in the PKA gene were analyzed with MassArray high-throughput DNA analyzer with matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry. A series of statistical methods were carried out to investigate the correlation between the SNPs and the patient susceptibility to NTDs. RESULTS Statistical analysis showed a significant correlation between the SNP sites rs12132032 in PRKACB and NTDs. The AA genotype, A-allele and dominant AA in rs12132032 significantly increased the incidence of NTDs especially anencephaly (OR=3.87, 95% CI: 1.80-8.34 with genotype; OR=2.08, 95% CI: 1.43-3.04 with allele; OR=3.10, 95% CI: 1.53-6.26 with dominant). The T-allele of rs594631 in PRKACB was correlative with NTDs in male but not in female. CONCLUSIONS The gene polymorphism loci rs12132032 in PRKACB maybe a potential risk factor for anencephaly in Chinese population from Shanxi, while gender susceptibility may influence the correlation.

2013 · Jian Wu, Xiaolin Lü, Zhen Wang, Shaofang Shangguan, Shaoyan Chang, Rui Li, Lihua Wu, Yihua Bao, Bo Niu, Li Wang, Ting Zhang

Curated Studies0 ▼

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