Confirmation of Linkage to Ocular Refraction on Chromosome 22q and Identification of a Novel Linkage Region on 1q

Klein, Alison P.; Duggal, Priya; Lee, Kristine E.; Klein, Ronald; Bailey-Wilson, Joan E.; Klein, Barbara E.K.

doi:10.1001/archopht.125.1.80

Cited by 33 publications

(40 citation statements)

References 26 publications

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“…11 Analyses of myopia and refractive error in the Beaver Dam Eye Study have shown confirmatory evidence of linkage of ocular refraction to chromosome 22q12 (MYP6) and provided suggestive evidence of linkage to chromo-some 1q. 12 …”

mentioning

confidence: 99%

Genome-wide Scan of African-American and White Families for Linkage to Myopia

Ciner

Ibay

Wojciechowski

et al. 2009

American Journal of Ophthalmology

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PURPOSE To identify myopia susceptibility genes influencing common myopia in 94 African-American and 36 White families. DESIGN A prospective study of families with myopia consisting of a minimum of two individuals affected with myopia. METHODS Extended families consisting of at least two siblings affected with myopia were ascertained. A genome-wide linkage scan using 387 markers was conducted by the Center for Inherited Disease Research. Linkage analyses were conducted with parametric and nonparametric methods. Model-free linkage analysis was performed maximizing over penetrance and over dominance (that is, fitting a wide range of both dominant and recessive models). RESULTS Under the model-free analysis, the maximum two point heterogeneity logarithm of the odds score (MALOD) was 2.87 at D6S1009 in the White cohort and the maximum multipoint MALOD was 2.42 at D12S373-D12S1042 in the same cohort. The nonpara-metric linkage (NPL) maximum multipoint at D6S1035 had a P value of .005. An overall multipoint NPL score was obtained by combining NPL scores from both populations. The highest combined NPL score was observed at D20S478 with a significant P value of .008. Suggestive evidence of linkage in the White cohort mapped to a previously mapped locus on chromosome 11 at D11S1981 (NPL = 2.14; P = .02). CONCLUSIONS Suggestive evidence of linkage to myopia in both African Americans and Whites was seen on chromosome 20 and became more significant when the scores were combined for both groups. The locus on chromosome 11 independently confirms a report by Hammond and associates mapping a myopia quantitative trait locus to this region.

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mentioning

confidence: 99%

Genome-wide Scan of African-American and White Families for Linkage to Myopia

Ciner

Ibay

Wojciechowski

et al. 2009

American Journal of Ophthalmology

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“…Finally, the same group carried out a quantitative trait locus linkage analysis in 61 Old Order Amish families (411 individuals) and 49 Orthodox Ashkenazi Jewish families (542 individuals) and then performed a meta-analysis of these results combined with previous evaluations of White and African American families (60). The combined analysis demonstrated a meta-P PW value of 0.0.0134 at 46 cM on 7p14, which supports an area associated with myopia but which is most likely distinct from that reported by Klein et al (52). Taken together, this body of data indicates that there are at least 2 locations on the 7p chromosome region that are associated with myopia, although so far the regions of interest have not been refined sufficiently to identify gene candidates.…”

Section: Other Myp Locimentioning

confidence: 52%

“…The major findings of the study conducted by Klein et al included the reporting of 2 novel gene loci on chromosome 1q (52). Exact multipoint p values for 1q24 and 1q41 were 0.0.27 and 0.0.0019, respectively, which suggests that there is evidence for at least one locus associated with refractive error.…”

Section: Other Myp Locimentioning

confidence: 98%

A decade in search of myopia genes

Jacobi

Pusch²

2010

Front Biosci

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Nearly half of visual impairment in the world is caused by uncorrected refractive errors, and myopia constitutes a significant proportion of this problem. Moreover, the prevalence of myopia is increasing, especially in Asian countries. Linkage studies have identified at least 18 possible loci (MYP) in 15 different chromosomes associated with myopia, although some of these remain to be confirmed. However, when studies have been carried out to identify specific candidate genes, it is apparent that these genes are often not part of MYP loci. In studying the expression of specific genes that might be responsible for myopia, we are learning that the involvement of various small leucine-rich repeat proteoglycans and growth factors is not a simple one. The emerging picture is one of complex interaction, in which mutations in several genes likely act in concert. The majority of myopia cases are not likely caused by defects in structural proteins, but in defects involving the control of structural proteins. The future of genetic research in this area will likely rely increasingly on microchip array technology.

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“…The risk factors for refractive error in adults include having a family member with a speci fi c refractive error [ 68 ] and associations with speci fi c gene sites [ 69 ] . It is likely that shared environmental factors and perhaps more than one gene (polygenic in fl uences) in fl uence refraction [ 70 ] .…”

Section: Refractive Errors Presbyopiamentioning

confidence: 99%

Visual Impairment

Klein¹,

Klein²

2012

The Epidemiology of Aging

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Visual impairment accompanies a wide range of ocular and systemic diseases and is a common cause of disability in the United States (US). It has been estimated that about 10 million people in the US are visually impaired. The World Health Organization (WHO) estimates that 314 million people worldwide are visually impaired and that 45 million of them are blind. These estimates are based for the most part on high contrast acuity. Common factors associated with visual impairment, some predisposing to impairment, other than the result of impairment, are age, potential to contribute to the work force, their quality of life, depression, and the possible effect of poor vision on independence and cognition.The economic burden of major adult visual disorder in the US was estimated to be 35.4 billion dollars annually, including 16.2 billion dollars in medical costs, 11.1 billion dollars in other direct costs, and 8 billion dollars in productivity losses. This is a transnational problem. For example, the economic cost of visual impairment in Japan was estimated to be 72.8 billion dollars in 2007. While assistive equipment exists to compensate for some of the disabilities, they do not restore vision and costs may be more than individuals and health care systems can afford. Thus, visual impairment is common and is a costly burden for individuals and for health care systems.Visual impairment associated with aging accompanies a wide range of ocular and systemic diseases including age related cataracts, age related macular degeneration diabetic retinopathy, retinal vein occlusions and refractive error. Therefore, information is given speci fi c to these entities.

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Confirmation of Linkage to Ocular Refraction on Chromosome 22q and Identification of a Novel Linkage Region on 1q

Cited by 33 publications

References 26 publications

Genome-wide Scan of African-American and White Families for Linkage to Myopia

Genome-wide Scan of African-American and White Families for Linkage to Myopia

A decade in search of myopia genes

Visual Impairment

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