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Association of lumican gene with susceptibility to pathological myopia in the northern han ethnic chinese.

Zhang F, Zhu T, Zhou Z, Wu Y, Li Y - J Ophthalmol (2009)

Bottom Line: There is no significant difference for incidence of these mutations between pedigree and sporadic group (P > .05).The results suggested that the sequence variants in 5'-regulatory region of lumican gene and 3'UTR of decorin gene were associated significantly with PM in Northern Han Chinese.Further studies are needed to confirm finally whether the two genes are the virulence genes of PM.

View Article: PubMed Central - PubMed

Affiliation: Eye Center of Beijing Tongren Hospital of Capital Medical University, Beijing 100730, China.

ABSTRACT
Pathological myopia is a severe hereditary ocular disease leading to blindness. It is urgent and very important to find the pathogenesis and therapy for this disease. The purpose of the study is to analyze sequences of lumican and decorin genes with pathological myopia(PM) and control subjects to verify the relationship between lumican, decorin genes and PM in Northern Han Chinese. We collected and analyzed the blood samples of 94 adults (including 12 pedigree cases and 82 sporadic cases) with PM and 90 controls in the northern Han ethnic Chinese. Genotyping was performed by direct sequencing after polymerase chain reaction(PCR) amplification and allele frequencies were tested for Hardy-Weinberg equilibrium. Univariate analysis revealed significant differences between two groups for three SNPs: rs3759223 (C --> T) and rs17853500 (T --> C) of the lumican gene and rs74419 (T --> C) of decorin gene with (P < .05) for all their genotype distribution and allele frequency. There is no significant difference for incidence of these mutations between pedigree and sporadic group (P > .05). The results suggested that the sequence variants in 5'-regulatory region of lumican gene and 3'UTR of decorin gene were associated significantly with PM in Northern Han Chinese. Further studies are needed to confirm finally whether the two genes are the virulence genes of PM.

No MeSH data available.


Related in: MedlinePlus

The genetic character of two Pedigrees with familial PM following autosomal recessive inheritance. Circles and squares denoted females and males, respectively; blackened symbols denoted affected subjects (refractive error < −6.00D); a diagonal line through a symbol denoted a deceased subject; a plus sign indicated genotyped subjects.
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fig1: The genetic character of two Pedigrees with familial PM following autosomal recessive inheritance. Circles and squares denoted females and males, respectively; blackened symbols denoted affected subjects (refractive error < −6.00D); a diagonal line through a symbol denoted a deceased subject; a plus sign indicated genotyped subjects.

Mentions: The subjects: 94 adult patients, including 12 pedigree cases (Figure 1) and 82 sporadic cases with PM (<−6.00D) and 90 controls, were recruited to study the relationships between the lumican, decorin genes and PM. All the patients showed a changing of ocular fundus such as temperal crescent, pigment epithelium thinning, leopard retina, Fuch's macula, retina-choroidal atrophy, and so on, which were not found in all of the controls. No participant had known ocular disease and injury that could predispose to PM, such as a history of retinopathy, prematurity, neonatal problems, a known genetic disease or connective tissue disorder associated with PM, such as Stickler and Marfan syndrome [15]. All cases and controls involved in this study had similar social backgrounds and were from the Northern Han ethnic Chinese, with no ethnic subdivision. The study was approved by the Ethics Committee of the Dalian Medical University, and adhered to the tenets of the Declaration of Helsinki. Blood samples were collected for genomic DNA isolation after obtaining informed consent from the subjects. Further information of all subjects is listed as Table 1.


Association of lumican gene with susceptibility to pathological myopia in the northern han ethnic chinese.

Zhang F, Zhu T, Zhou Z, Wu Y, Li Y - J Ophthalmol (2009)

The genetic character of two Pedigrees with familial PM following autosomal recessive inheritance. Circles and squares denoted females and males, respectively; blackened symbols denoted affected subjects (refractive error < −6.00D); a diagonal line through a symbol denoted a deceased subject; a plus sign indicated genotyped subjects.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC2836866&req=5

fig1: The genetic character of two Pedigrees with familial PM following autosomal recessive inheritance. Circles and squares denoted females and males, respectively; blackened symbols denoted affected subjects (refractive error < −6.00D); a diagonal line through a symbol denoted a deceased subject; a plus sign indicated genotyped subjects.
Mentions: The subjects: 94 adult patients, including 12 pedigree cases (Figure 1) and 82 sporadic cases with PM (<−6.00D) and 90 controls, were recruited to study the relationships between the lumican, decorin genes and PM. All the patients showed a changing of ocular fundus such as temperal crescent, pigment epithelium thinning, leopard retina, Fuch's macula, retina-choroidal atrophy, and so on, which were not found in all of the controls. No participant had known ocular disease and injury that could predispose to PM, such as a history of retinopathy, prematurity, neonatal problems, a known genetic disease or connective tissue disorder associated with PM, such as Stickler and Marfan syndrome [15]. All cases and controls involved in this study had similar social backgrounds and were from the Northern Han ethnic Chinese, with no ethnic subdivision. The study was approved by the Ethics Committee of the Dalian Medical University, and adhered to the tenets of the Declaration of Helsinki. Blood samples were collected for genomic DNA isolation after obtaining informed consent from the subjects. Further information of all subjects is listed as Table 1.

Bottom Line: There is no significant difference for incidence of these mutations between pedigree and sporadic group (P > .05).The results suggested that the sequence variants in 5'-regulatory region of lumican gene and 3'UTR of decorin gene were associated significantly with PM in Northern Han Chinese.Further studies are needed to confirm finally whether the two genes are the virulence genes of PM.

View Article: PubMed Central - PubMed

Affiliation: Eye Center of Beijing Tongren Hospital of Capital Medical University, Beijing 100730, China.

ABSTRACT
Pathological myopia is a severe hereditary ocular disease leading to blindness. It is urgent and very important to find the pathogenesis and therapy for this disease. The purpose of the study is to analyze sequences of lumican and decorin genes with pathological myopia(PM) and control subjects to verify the relationship between lumican, decorin genes and PM in Northern Han Chinese. We collected and analyzed the blood samples of 94 adults (including 12 pedigree cases and 82 sporadic cases) with PM and 90 controls in the northern Han ethnic Chinese. Genotyping was performed by direct sequencing after polymerase chain reaction(PCR) amplification and allele frequencies were tested for Hardy-Weinberg equilibrium. Univariate analysis revealed significant differences between two groups for three SNPs: rs3759223 (C --> T) and rs17853500 (T --> C) of the lumican gene and rs74419 (T --> C) of decorin gene with (P < .05) for all their genotype distribution and allele frequency. There is no significant difference for incidence of these mutations between pedigree and sporadic group (P > .05). The results suggested that the sequence variants in 5'-regulatory region of lumican gene and 3'UTR of decorin gene were associated significantly with PM in Northern Han Chinese. Further studies are needed to confirm finally whether the two genes are the virulence genes of PM.

No MeSH data available.


Related in: MedlinePlus