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Association of 5p15.2 and 15q14 with High Myopia in Tujia and Miao Chinese Populations
Tuo Li
Corresponding Author
ORCiD: https://orcid.org/0000-0002-4764-882X
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This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at BMC Ophthalmology.
Background: The polymorphisms rs6885224 and rs634990 have been reported to be associated with high myopia in many populations. As there is still no report on whether these two SNPs are associated with myopia in the Tujia and Miao minority areas of China, we conducted a replication study to evaluate the association of single-nucleotide polymorphisms in the regions 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.
Methods: We performed a comprehensive meta-analysis of 5831 cases and 7055 controls to assess whether rs6885224 in the 5p15.2 region and rs634990 in the 15q14 region are associated with high myopia. Our replication study enrolled 804 individuals. Genomic DNA was extracted from venous leukocytes, and these two SNPs were genotyped by Sanger sequencing. Allele and genotype frequencies were analysed using χ2 tests, and ORs and 95% CIs were calculated.
Results: According to the results of the meta-analysis, rs6885224 in the CTNND2 gene showed no association with myopia [p=0.222, OR=1.154, 95% CI (0.917-1.452)]. Conversely, rs634990 in the 15q14 region did exhibit a significant correlation with myopia [p=7.270´10-7, OR=0.817, 95% CI (0.754-0.885)]. In our replication study, no association with high myopia in the Tujia and Miao populations was found for rs634990 or rs6885224. The following were obtained by allele frequency analysis: rs6885224, p=0.175, OR=0.845, and 95% CI=0.662-1.078; rs634990, p=0.087, OR=0.84, and the 95% CI=0.687-1.026. Genotype frequency analysis yielded p=0.376 for rs6885224 and p=0.243 for rs634990.
Conclusions: Our meta-analysis results show that rs634990 was significantly associated with myopia but that rs6885224 was not. Nevertheless, in our replication study, these two SNPs showed no association with myopia in the Tujia and Miao Chinese populations. This is the first report involving Tujia and Miao ethnic groups from Enshi minority areas. However, the sample size needs to be expanded and more stringent inclusion and exclusion criteria need to be formulated to verify the findings.
Keywords
Myopia, Single-nucleotide polymorphism, 5p15.2 region, 15q14 region, Association study
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CURRENT STATUS: Published
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Posted 12 Jun, 2020
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Editorial decision: Major revision
On 21 May, 2020
Review #1 received
Received 19 May, 2020
Reviewer #1 agreed
On 27 Apr, 2020
Editor assigned
On 24 Apr, 2020
Reviewers invited
Invitations sent on 24 Apr, 2020
Submission checks complete
On 23 Apr, 2020
Editor invited
On 23 Apr, 2020
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Editorial decision: Major revision
On 25 Mar, 2020
Review #2 received
Received 19 Mar, 2020
Reviewer #2 agreed
On 02 Mar, 2020
Review #1 received
Received 13 Feb, 2020
Reviewer #1 agreed
On 04 Feb, 2020
Reviewers invited
Invitations sent on 03 Feb, 2020
Editor assigned
On 22 Jan, 2020
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On 21 Jan, 2020
Editor invited
On 20 Jan, 2020
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Subject Areas
Ophthalmology
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This preprint is under consideration at BMC Ophthalmology. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research article
Association of 5p15.2 and 15q14 with High Myopia in Tujia and Miao Chinese Populations
Tuo Li
Corresponding Author
ORCiD: https://orcid.org/0000-0002-4764-882X
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
Version 3
Posted 12 Jun, 2020
No comments provided
Editorial decision: Major revision
On 21 May, 2020
Review #1 received
Received 19 May, 2020
Reviewer #1 agreed
On 27 Apr, 2020
Editor assigned
On 24 Apr, 2020
Reviewers invited
Invitations sent on 24 Apr, 2020
Submission checks complete
On 23 Apr, 2020
Editor invited
On 23 Apr, 2020
No comments provided
Editorial decision: Major revision
On 25 Mar, 2020
Review #2 received
Received 19 Mar, 2020
Reviewer #2 agreed
On 02 Mar, 2020
Review #1 received
Received 13 Feb, 2020
Reviewer #1 agreed
On 04 Feb, 2020
Reviewers invited
Invitations sent on 03 Feb, 2020
Editor assigned
On 22 Jan, 2020
Submission checks complete
On 21 Jan, 2020
Editor invited
On 20 Jan, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Ophthalmology
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published version at BMC Ophthalmology.
Background: The polymorphisms rs6885224 and rs634990 have been reported to be associated with high myopia in many populations. As there is still no report on whether these two SNPs are associated with myopia in the Tujia and Miao minority areas of China, we conducted a replication study to evaluate the association of single-nucleotide polymorphisms in the regions 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.
Methods: We performed a comprehensive meta-analysis of 5831 cases and 7055 controls to assess whether rs6885224 in the 5p15.2 region and rs634990 in the 15q14 region are associated with high myopia. Our replication study enrolled 804 individuals. Genomic DNA was extracted from venous leukocytes, and these two SNPs were genotyped by Sanger sequencing. Allele and genotype frequencies were analysed using χ2 tests, and ORs and 95% CIs were calculated.
Results: According to the results of the meta-analysis, rs6885224 in the CTNND2 gene showed no association with myopia [p=0.222, OR=1.154, 95% CI (0.917-1.452)]. Conversely, rs634990 in the 15q14 region did exhibit a significant correlation with myopia [p=7.270´10-7, OR=0.817, 95% CI (0.754-0.885)]. In our replication study, no association with high myopia in the Tujia and Miao populations was found for rs634990 or rs6885224. The following were obtained by allele frequency analysis: rs6885224, p=0.175, OR=0.845, and 95% CI=0.662-1.078; rs634990, p=0.087, OR=0.84, and the 95% CI=0.687-1.026. Genotype frequency analysis yielded p=0.376 for rs6885224 and p=0.243 for rs634990.
Conclusions: Our meta-analysis results show that rs634990 was significantly associated with myopia but that rs6885224 was not. Nevertheless, in our replication study, these two SNPs showed no association with myopia in the Tujia and Miao Chinese populations. This is the first report involving Tujia and Miao ethnic groups from Enshi minority areas. However, the sample size needs to be expanded and more stringent inclusion and exclusion criteria need to be formulated to verify the findings.
Figure 1
Figure 2
Figure 3
Figure 4