PMID- 25608828
OWN - NLM
STAT- MEDLINE
DCOM- 20160401
LR  - 20221207
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 60
IP  - 3
DP  - 2015 Mar
TI  - A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in 
      three Korean populations.
PG  - 113-8
LID - 10.1038/jhg.2014.108 [doi]
AB  - Serum levels of lipids, such as cholesterol and triglycerides, are heritable risk 
      factors for cardiovascular disease and targets for therapeutic intervention. 
      Because previous genome-wide association studies (GWASs) did not target 
      functional genetic variants, we employed an alternate approach using 
      nonsynonymous single-nucleotide polymorphisms (SNPs) to identify functional 
      genetic variants associated with the regulation of serum lipid levels. We 
      selected 3667 healthy individuals from a rural community-based cohort (CAVAS; 
      Cardio Vascular disease Association Study) of the Korean Genome and Epidemiology 
      Study project. We analyzed demographic and lifestyle information, lipid 
      measurements and genotypes using the Illumina-1M SNP chip. For genotyping, we 
      isolated 11 558 nonsynonymous SNPs and conducted a linear regression analysis 
      with four lipid traits (total, high-density lipoprotein (HDL) and low-density 
      lipoprotein (LDL) cholesterols and triglycerides). Significantly associated SNPs 
      were validated in two independent Korean populations, Korean Association Resource 
      (KARE) (n=4116) and Health Examinee (HEXA) (n=2178). Of the 11 558 SNPs, one SNP 
      (rs3733197) from the CAVAS was significantly associated with serum LDL 
      cholesterols (beta+/-s.e.=4.67+/-0.94, P-value=1.0 x 10(-6 and) Bonferroni corrected 
      P-value=0.012). The replication results of HEXA and KARE were 
      beta+/-s.e.=2.88+/-1.12, P-value=0.016 and beta+/-s.e.=1.26+/-0.97, P-value=0.196, 
      respectively. An overall meta-analysis of the three data sets revealed 
      beta=2.98+/-0.57, P-value=6.19 x 10(-7). The rs3733197 is located in the coding 
      region of BANK1 (B-cell scaffold protein with ankyrin repeats 1), and the minor 
      allele (A) resulted in the replacement of the Alanine at position 383 with 
      Threonine.
FAU - Hong, Kyung-Won
AU  - Hong KW
AD  - Division of Epidemiology and Health Index, Center for Genome Science, Korea 
      Centers for Disease Control and Prevention, Cheongju-si, Korea.
FAU - Lyu, Jieun
AU  - Lyu J
AD  - Division of Epidemiology and Health Index, Center for Genome Science, Korea 
      Centers for Disease Control and Prevention, Cheongju-si, Korea.
FAU - Lee, So Hyun
AU  - Lee SH
AD  - Division of Epidemiology and Health Index, Center for Genome Science, Korea 
      Centers for Disease Control and Prevention, Cheongju-si, Korea.
FAU - Choi, Bo Youl
AU  - Choi BY
AD  - Department of Preventive Medicine, College of Medicine, Hanyang University, 
      Seoul, Korea.
FAU - Kim, Sung Soo
AU  - Kim SS
AD  - Division of Epidemiology and Health Index, Center for Genome Science, Korea 
      Centers for Disease Control and Prevention, Cheongju-si, Korea.
FAU - Kim, Yeonjung
AU  - Kim Y
AD  - Division of Epidemiology and Health Index, Center for Genome Science, Korea 
      Centers for Disease Control and Prevention, Cheongju-si, Korea.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150122
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (BANK1 protein, human)
RN  - 0 (Cholesterol, LDL)
RN  - 0 (Membrane Proteins)
RN  - 0 (Triglycerides)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing/*genetics
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Asian People/genetics
MH  - Cardiovascular Diseases/blood/ethnology/*genetics
MH  - Cholesterol, LDL/*blood
MH  - Cohort Studies
MH  - Female
MH  - Gene Frequency
MH  - Genetic Predisposition to Disease/ethnology/*genetics
MH  - Genome-Wide Association Study
MH  - Genotype
MH  - Humans
MH  - Linear Models
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - *Polymorphism, Single Nucleotide
MH  - Republic of Korea
MH  - Risk Factors
MH  - Triglycerides/blood
EDAT- 2015/01/23 06:00
MHDA- 2016/04/02 06:00
CRDT- 2015/01/23 06:00
PHST- 2014/07/30 00:00 [received]
PHST- 2014/11/02 00:00 [revised]
PHST- 2014/11/18 00:00 [accepted]
PHST- 2015/01/23 06:00 [entrez]
PHST- 2015/01/23 06:00 [pubmed]
PHST- 2016/04/02 06:00 [medline]
AID - jhg2014108 [pii]
AID - 10.1038/jhg.2014.108 [doi]
PST - ppublish
SO  - J Hum Genet. 2015 Mar;60(3):113-8. doi: 10.1038/jhg.2014.108. Epub 2015 Jan 22.