paperKB
coga / coga-kb
Help
Sign in

Chunk #32 — Discussion

Source
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
Embedded
yes

Text

an intronic SNP rs67031482 (p=4.7 × 10−6), which is in LD (R2 = 0.72, D′ = 0.92) with rs1064213 (p = 1.1.×10−4), a missense variant that leads to substitution of a conserved residue valine to isoleucine at position 667 in the PI_PLC Y-box region. This conserved region has been shown to be important for the catalytic activity of the protein (Jiang et al. 1994). Interestingly, in GWAS of Molecular Genetics of Schizophrenia control sample, researchers reported a variant rs10180112 in PLCL1 which showed moderate evidence of association (p=5.22 × 10−4) with alcohol dependence symptom counts in African Americans (Kendler et al. 2011). This variant showed nominal association with maxdrinks (p= 1.9 × 10−3) in COGA families, but no association was detected in the SAGE sample. The SNP rs10180112 is in low LD (R2 = 0.036, D′ = 0.51) with rs67031482, the most strongly associated SNP with maxdrinks in the current datasets. This same SNP, rs10180112, is a putative expression quantitative trait locus (eQTL) in monocytes (Zeller et al. 2010), as reported on an eQTL browser (http://eqtl.uchicago.edu/). The variant rs1579695 (p=1.12 × 10−5) identified in the present study was also found to be a potential cis eQTL in monocytes as shown