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Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.

Publication ,  Journal Article
Li, Y-J; Minear, MA; Qin, X; Rimmler, J; Hauser, MA; Allingham, RR; Igo, RP; Lass, JH; Iyengar, SK; Klintworth, GK; Afshari, NA; Gregory, SG ...
Published in: Invest Ophthalmol Vis Sci
June 10, 2014

PURPOSE: We investigated whether mitochondrial DNA (mtDNA) variants affect the susceptibility of Fuchs endothelial corneal dystrophy (FECD). METHODS: Ten mtDNA variants defining European haplogroups were genotyped in a discovery dataset consisting of 530 cases and 498 controls of European descent from the Duke FECD cohort. Association tests for mtDNA markers and haplogroups were performed using logistic regression models with adjustment of age and sex. Subset analyses included controlling for additional effects of either the TCF4 SNP rs613872 or cigarette smoking. Our replication dataset was derived from the genome-wide association study (GWAS) of the FECD Genetics Consortium, where genotypes for three of 10 mtDNA markers were available. Replication analyses were performed to compare non-Duke cases to all GWAS controls (GWAS1, N = 3200), and to non-Duke controls (GWAS2, N = 3043). RESULTS: The variant A10398G was significantly associated with FECD (odds ratio [OR] = 0.72; 95% confidence interval [CI] = [0.53, 0.98]; P = 0.034), and remains significant after adjusting for smoking status (min P = 0.012). This variant was replicated in GWAS1 (P = 0.019) and GWAS2 (P = 0.036). Haplogroup I was significantly associated with FECD (OR = 0.46; 95% CI = [0.22, 0.97]; P = 0.041) and remains significant after adjusting for the effect of smoking (min P = 0.008) or rs613872 (P = 0.034). CONCLUSIONS: The 10398G allele and Haplogroup I appear to confer significant protective effects for FECD. The effect of A10398G and Haplogroup I to FECD is likely independent of the known TCF4 variant. More data are needed to decipher the interaction between smoking and mtDNA haplogroups.

Duke Scholars

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

June 10, 2014

Volume

55

Issue

7

Start / End Page

4577 / 4584

Location

United States

Related Subject Headings

  • White People
  • Transcription Factors
  • Transcription Factor 4
  • Smoking
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Ophthalmology & Optometry
  • Mitochondria
  • Middle Aged
  • Male
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Li, Y.-J., Minear, M. A., Qin, X., Rimmler, J., Hauser, M. A., Allingham, R. R., … FECD Genetics Consortium, . (2014). Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci, 55(7), 4577–4584. https://doi.org/10.1167/iovs.13-13517
Li, Yi-Ju, Mollie A. Minear, Xuejun Qin, Jacqueline Rimmler, Michael A. Hauser, R Rand Allingham, Robert P. Igo, et al. “Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.Invest Ophthalmol Vis Sci 55, no. 7 (June 10, 2014): 4577–84. https://doi.org/10.1167/iovs.13-13517.
Li Y-J, Minear MA, Qin X, Rimmler J, Hauser MA, Allingham RR, et al. Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2014 Jun 10;55(7):4577–84.
Li, Yi-Ju, et al. “Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy.Invest Ophthalmol Vis Sci, vol. 55, no. 7, June 2014, pp. 4577–84. Pubmed, doi:10.1167/iovs.13-13517.
Li Y-J, Minear MA, Qin X, Rimmler J, Hauser MA, Allingham RR, Igo RP, Lass JH, Iyengar SK, Klintworth GK, Afshari NA, Gregory SG, FECD Genetics Consortium. Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2014 Jun 10;55(7):4577–4584.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

June 10, 2014

Volume

55

Issue

7

Start / End Page

4577 / 4584

Location

United States

Related Subject Headings

  • White People
  • Transcription Factors
  • Transcription Factor 4
  • Smoking
  • Polymorphism, Single Nucleotide
  • Polymerase Chain Reaction
  • Ophthalmology & Optometry
  • Mitochondria
  • Middle Aged
  • Male