Myopia in chinese families shows linkage to 10q26.13

Anthony M. Musolf, Claire Simpson, Kyle A. Long, Bilal A. Moiz, Deyana D. Lewis, Candace D. Middlebrooks, Laura Portas, Federico Murgia, Elise B. Ciner, Joan E. Bailey-Wilson, Dwight Stambolian

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Purpose: To determine genetic linkage between myopia and Han Chinese patients with a family history of the disease. Methods: One hundred seventy-six Han Chinese patients from 34 extended families were given eye examinations, and mean spherical equivalent (MSE) in diopters (D) was calculated by adding the spherical component of the refraction to one-half the cylindrical component and taking the average of both eyes. The MSE was converted to a binary phenotype, where all patients with an MSE of-1.00 D or less were coded as affected. Unaffected individuals had an MSE greater than 0.00 D (ages 21 years and up), +1.50 (ages 11-20), or +2.00 D (ages 6-10 years). Individuals between the given upper threshold and −1.00 were coded as unknown. Patients were genotyped on an exome chip. Three types of linkage analyses were performed: single-variant two-point, multipoint, and collapsed haplotype pattern (CHP) variant two-point. Results: The CHP variant two-point results identified a significant peak (heterogeneity logarithm of the odds [HLOD] = 3.73) at 10q26.13 in TACC2. The single-variant two-point and multipoint analyses showed highly suggestive linkage to the same region. The single-variant two-point results identified 25 suggestive variants at HTRA1, also at 10q26.13. Conclusions: We report a significant genetic linkage between myopia and Han Chinese patients at 10q26.13. 10q26.13 contains several good candidate genes, such as TACC2 and the known age-related macular degeneration gene HTRA1. Targeted sequencing of the region is planned to identify the causal variant(s).

Original languageEnglish (US)
Pages (from-to)29-42
Number of pages14
JournalMolecular Vision
Volume24
StatePublished - Jan 14 2018

Fingerprint

Myopia
Genetic Linkage
Haplotypes
Exome
Macular Degeneration
Genes
Phenotype

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

Musolf, A. M., Simpson, C., Long, K. A., Moiz, B. A., Lewis, D. D., Middlebrooks, C. D., ... Stambolian, D. (2018). Myopia in chinese families shows linkage to 10q26.13. Molecular Vision, 24, 29-42.

Myopia in chinese families shows linkage to 10q26.13. / Musolf, Anthony M.; Simpson, Claire; Long, Kyle A.; Moiz, Bilal A.; Lewis, Deyana D.; Middlebrooks, Candace D.; Portas, Laura; Murgia, Federico; Ciner, Elise B.; Bailey-Wilson, Joan E.; Stambolian, Dwight.

In: Molecular Vision, Vol. 24, 14.01.2018, p. 29-42.

Research output: Contribution to journalArticle

Musolf, AM, Simpson, C, Long, KA, Moiz, BA, Lewis, DD, Middlebrooks, CD, Portas, L, Murgia, F, Ciner, EB, Bailey-Wilson, JE & Stambolian, D 2018, 'Myopia in chinese families shows linkage to 10q26.13', Molecular Vision, vol. 24, pp. 29-42.
Musolf AM, Simpson C, Long KA, Moiz BA, Lewis DD, Middlebrooks CD et al. Myopia in chinese families shows linkage to 10q26.13. Molecular Vision. 2018 Jan 14;24:29-42.
Musolf, Anthony M. ; Simpson, Claire ; Long, Kyle A. ; Moiz, Bilal A. ; Lewis, Deyana D. ; Middlebrooks, Candace D. ; Portas, Laura ; Murgia, Federico ; Ciner, Elise B. ; Bailey-Wilson, Joan E. ; Stambolian, Dwight. / Myopia in chinese families shows linkage to 10q26.13. In: Molecular Vision. 2018 ; Vol. 24. pp. 29-42.
@article{2e6027e817a14e93a0cf32f8b2e217c1,
title = "Myopia in chinese families shows linkage to 10q26.13",
abstract = "Purpose: To determine genetic linkage between myopia and Han Chinese patients with a family history of the disease. Methods: One hundred seventy-six Han Chinese patients from 34 extended families were given eye examinations, and mean spherical equivalent (MSE) in diopters (D) was calculated by adding the spherical component of the refraction to one-half the cylindrical component and taking the average of both eyes. The MSE was converted to a binary phenotype, where all patients with an MSE of-1.00 D or less were coded as affected. Unaffected individuals had an MSE greater than 0.00 D (ages 21 years and up), +1.50 (ages 11-20), or +2.00 D (ages 6-10 years). Individuals between the given upper threshold and −1.00 were coded as unknown. Patients were genotyped on an exome chip. Three types of linkage analyses were performed: single-variant two-point, multipoint, and collapsed haplotype pattern (CHP) variant two-point. Results: The CHP variant two-point results identified a significant peak (heterogeneity logarithm of the odds [HLOD] = 3.73) at 10q26.13 in TACC2. The single-variant two-point and multipoint analyses showed highly suggestive linkage to the same region. The single-variant two-point results identified 25 suggestive variants at HTRA1, also at 10q26.13. Conclusions: We report a significant genetic linkage between myopia and Han Chinese patients at 10q26.13. 10q26.13 contains several good candidate genes, such as TACC2 and the known age-related macular degeneration gene HTRA1. Targeted sequencing of the region is planned to identify the causal variant(s).",
author = "Musolf, {Anthony M.} and Claire Simpson and Long, {Kyle A.} and Moiz, {Bilal A.} and Lewis, {Deyana D.} and Middlebrooks, {Candace D.} and Laura Portas and Federico Murgia and Ciner, {Elise B.} and Bailey-Wilson, {Joan E.} and Dwight Stambolian",
year = "2018",
month = "1",
day = "14",
language = "English (US)",
volume = "24",
pages = "29--42",
journal = "Molecular Vision",
issn = "1090-0535",

}

TY - JOUR

T1 - Myopia in chinese families shows linkage to 10q26.13

AU - Musolf, Anthony M.

AU - Simpson, Claire

AU - Long, Kyle A.

AU - Moiz, Bilal A.

AU - Lewis, Deyana D.

AU - Middlebrooks, Candace D.

AU - Portas, Laura

AU - Murgia, Federico

AU - Ciner, Elise B.

AU - Bailey-Wilson, Joan E.

AU - Stambolian, Dwight

PY - 2018/1/14

Y1 - 2018/1/14

N2 - Purpose: To determine genetic linkage between myopia and Han Chinese patients with a family history of the disease. Methods: One hundred seventy-six Han Chinese patients from 34 extended families were given eye examinations, and mean spherical equivalent (MSE) in diopters (D) was calculated by adding the spherical component of the refraction to one-half the cylindrical component and taking the average of both eyes. The MSE was converted to a binary phenotype, where all patients with an MSE of-1.00 D or less were coded as affected. Unaffected individuals had an MSE greater than 0.00 D (ages 21 years and up), +1.50 (ages 11-20), or +2.00 D (ages 6-10 years). Individuals between the given upper threshold and −1.00 were coded as unknown. Patients were genotyped on an exome chip. Three types of linkage analyses were performed: single-variant two-point, multipoint, and collapsed haplotype pattern (CHP) variant two-point. Results: The CHP variant two-point results identified a significant peak (heterogeneity logarithm of the odds [HLOD] = 3.73) at 10q26.13 in TACC2. The single-variant two-point and multipoint analyses showed highly suggestive linkage to the same region. The single-variant two-point results identified 25 suggestive variants at HTRA1, also at 10q26.13. Conclusions: We report a significant genetic linkage between myopia and Han Chinese patients at 10q26.13. 10q26.13 contains several good candidate genes, such as TACC2 and the known age-related macular degeneration gene HTRA1. Targeted sequencing of the region is planned to identify the causal variant(s).

AB - Purpose: To determine genetic linkage between myopia and Han Chinese patients with a family history of the disease. Methods: One hundred seventy-six Han Chinese patients from 34 extended families were given eye examinations, and mean spherical equivalent (MSE) in diopters (D) was calculated by adding the spherical component of the refraction to one-half the cylindrical component and taking the average of both eyes. The MSE was converted to a binary phenotype, where all patients with an MSE of-1.00 D or less were coded as affected. Unaffected individuals had an MSE greater than 0.00 D (ages 21 years and up), +1.50 (ages 11-20), or +2.00 D (ages 6-10 years). Individuals between the given upper threshold and −1.00 were coded as unknown. Patients were genotyped on an exome chip. Three types of linkage analyses were performed: single-variant two-point, multipoint, and collapsed haplotype pattern (CHP) variant two-point. Results: The CHP variant two-point results identified a significant peak (heterogeneity logarithm of the odds [HLOD] = 3.73) at 10q26.13 in TACC2. The single-variant two-point and multipoint analyses showed highly suggestive linkage to the same region. The single-variant two-point results identified 25 suggestive variants at HTRA1, also at 10q26.13. Conclusions: We report a significant genetic linkage between myopia and Han Chinese patients at 10q26.13. 10q26.13 contains several good candidate genes, such as TACC2 and the known age-related macular degeneration gene HTRA1. Targeted sequencing of the region is planned to identify the causal variant(s).

UR - http://www.scopus.com/inward/record.url?scp=85040815151&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85040815151&partnerID=8YFLogxK

M3 - Article

C2 - 29383007

AN - SCOPUS:85040815151

VL - 24

SP - 29

EP - 42

JO - Molecular Vision

JF - Molecular Vision

SN - 1090-0535

ER -