PMID- 26393465
OWN - NLM
STAT- MEDLINE
DCOM- 20160105
LR  - 20181113
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 56
IP  - 10
DP  - 2015 Sep
TI  - Single Nucleotide Polymorphisms in the BDNF, VDR, and DNASE 1 Genes in Dry Eye 
      Disease Patients: A Case-Control Study.
PG  - 5990-6
LID - 10.1167/iovs.15-17036 [doi]
AB  - PURPOSE: To identify single nucleotide polymorphisms (SNPs) in the brain-derived 
      neurotrophic factor (BDNF), vitamin D receptor (VDR), and DNASE1 genes that may 
      be associated with dry eye disease (DED), and determine whether this association 
      varies by the presence of depression. METHODS: A case-control study was performed 
      with 64 DED cases and 51 controls. We collected 2 mL of saliva following a 
      routine eye exam. Genotyping was performed using both custom and predesigned 
      TaqMan SNP genotyping assays for 12 hypothesized SNPs. Genotype and allele 
      frequencies of cases and controls were evaluated. Odds ratios were calculated for 
      allele frequencies. Stratified analysis was performed to determine if the 
      association between SNPs and DED varied by depression status. RESULTS: A total of 
      18% of cases had the minor allele A of Val66Met (rs6265) SNP in the BDNF gene 
      compared with 9% of the controls (P = 0.05). Odds ratio was 2.22. Two SNPs 
      (Fokl-rs2228570 and Apal-rs7975232) in the VDR genes also varied between DED 
      cases and controls. Cases were 1.72 and 1.66 times more likely to have the minor 
      allele A in rs2228570 and rs7975232, respectively, than controls (P = 0.06 for 
      both). While not statistically significant, among patients with depression, DED 
      cases were 3.93 times more likely to have the minor allele A of the Val66Met SNP 
      compared to controls. CONCLUSIONS: This pilot study showed that Val66Met in the 
      BDNF gene and two SNPs, Fokl and Apal, in the VDR gene may potentially be 
      associated with DED. Additionally, the association between DED and Val66Met may 
      vary by depression status.
FAU - Hallak, Joelle A
AU  - Hallak JA
AD  - Corneal Neurobiology Laboratory Department of Ophthalmology and Visual Sciences, 
      University of Illinois at Chicago, College of Medicine, Chicago, Illinois, United 
      States 2Quantitative Scientific Solutions, LLC, Arlington, Virginia, United 
      States.
FAU - Tibrewal, Sapna
AU  - Tibrewal S
AD  - Corneal Neurobiology Laboratory Department of Ophthalmology and Visual Sciences, 
      University of Illinois at Chicago, College of Medicine, Chicago, Illinois, United 
      States.
FAU - Mohindra, Neil
AU  - Mohindra N
AD  - Corneal Neurobiology Laboratory Department of Ophthalmology and Visual Sciences, 
      University of Illinois at Chicago, College of Medicine, Chicago, Illinois, United 
      States.
FAU - Gao, Xiaoyi
AU  - Gao X
AD  - Quantitative Ocular Genomics Laboratory, Department of Ophthalmology and Visual 
      Sciences, University of Illinois at Chicago, College of Medicine, Chicago, 
      Illinois, United States.
FAU - Jain, Sandeep
AU  - Jain S
AD  - Corneal Neurobiology Laboratory Department of Ophthalmology and Visual Sciences, 
      University of Illinois at Chicago, College of Medicine, Chicago, Illinois, United 
      States.
LA  - eng
GR  - R01 EY022651/EY/NEI NIH HHS/United States
GR  - R01 EY024966/EY/NEI NIH HHS/United States
GR  - R01EY022651/EY/NEI NIH HHS/United States
GR  - R01EY024966/EY/NEI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Brain-Derived Neurotrophic Factor)
RN  - 0 (Receptors, Calcitriol)
RN  - 7171WSG8A2 (BDNF protein, human)
RN  - 9007-49-2 (DNA)
RN  - EC 3.1.21.1 (Deoxyribonuclease I)
SB  - IM
MH  - Alleles
MH  - Brain-Derived Neurotrophic Factor/*genetics/metabolism
MH  - DNA/*genetics
MH  - Deoxyribonuclease I/*genetics/metabolism
MH  - Dry Eye Syndromes/*genetics/metabolism
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Pilot Projects
MH  - *Polymorphism, Single Nucleotide
MH  - Receptors, Calcitriol/*genetics/metabolism
MH  - Retrospective Studies
PMC - PMC5102496
EDAT- 2015/09/24 06:00
MHDA- 2016/01/06 06:00
PMCR- 2015/09/01
CRDT- 2015/09/23 06:00
PHST- 2015/09/23 06:00 [entrez]
PHST- 2015/09/24 06:00 [pubmed]
PHST- 2016/01/06 06:00 [medline]
PHST- 2015/09/01 00:00 [pmc-release]
AID - 2443513 [pii]
AID - IOVS-15-17036 [pii]
AID - 10.1167/iovs.15-17036 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2015 Sep;56(10):5990-6. doi: 10.1167/iovs.15-17036.