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Table 1 Characteristics of candidate SNP representing LD blocks in the CHRNA5/A3/B4 locus

From: Combined genetic influence of the nicotinic receptor gene cluster CHRNA5/A3/B4 on nicotine dependence

Group

Candidate lead SNP

Asociation with RNA expressiona

Clinical phenotypeb

1

rs16969968

nsSNP alters CHRNA5 receptor function (CHRNA5)

Smoking-related, cardiovascular, pulmonary/lung cancer

2–1

rs880395

enhanced expression of CHRNA5/3 in brain and peripheral tissues

Smoking-related, cardiovascular, pulmonary/lung cancer

2–2

rs1948

enhanced expression of CHRNA3 in brain basal ganglia

3

rs4887074

reduced expression of CHRNB4 in peripheral tissuesc

Smoking-related

Cardio-vascular

4

rs6495308

reduced expression of CHRNA5/3 in peripheral tissues

Smoking-related, cardiovascular, pulmonary/lung cancer

  1. aBased on GTEx
  2. bBased on GWAS catalog and dbGaP database
  3. cNo brain expression eQTLs available in brain regions because of low mRNA expression