Genetics Genetics Research
CHROMOSOME 1 PRKACB 1p31.1 GENE VIEW PRKACB · 1p31.1 1p32 1p30 rs12132032 — ~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 rs12132032 A / G · PRKACB · 1p31.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs12132032

Gene: PRKACB — Protein Kinase CAMP-Activated Catalytic Subunit Beta Chr 1:84100906 1p31.1 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.55461G 0.44539AA 0.313635AG/GA 0.481957GG 0.204408pop=49,548 ↬
African A 0.7096G 0.2904AA 0.504283AG/GA 0.410718GG 0.084999pop=9,106
African American A 0.7082G 0.2918AA 0.501942AG/GA 0.412611GG 0.085447pop=8,754
African Others A 0.744G 0.256AA 0.5625AG/GA 0.363636GG 0.073864pop=352
Asian A 0.738G 0.262AA 0.584615AG/GA 0.307692GG 0.107692pop=130
East Asian A 0.755G 0.245AA 0.588235AG/GA 0.333333GG 0.078431pop=102
European A 0.51098G 0.48902AA 0.260299AG/GA 0.501362GG 0.238339pop=36,704
Latin American 1 A 0.648G 0.352AA 0.378788AG/GA 0.537879GG 0.083333pop=264
Latin American 2 A 0.65G 0.35AA 0.431767AG/GA 0.436242GG 0.131991pop=894
Other A 0.5755G 0.4245AA 0.33705AG/GA 0.476844GG 0.186106pop=2,332
Other Asian A 0.68G 0.32AA 0.571429AG/GA 0.214286GG 0.214286pop=28
South Asian A 0.619G 0.381AA 0.389831AG/GA 0.457627GG 0.152542pop=118

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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