Dataset of allele, genotype and haplotype frequencies of five polymorphisms CDKN2B-AS1 gene in Russian patients with primary open-angle glaucoma

Data on the allele, genotype and haplotype frequencies of the five single nucleotide polymorphisms (SNPs) such as rs1063192, rs7865618, rs2157719, rs944800 and rs4977756 of the CDKN2B-AS gene in Russian patients with primary open-angle glaucoma (POAG) are provided. These SNPs are found to be associated with the risk of POAG by genome-wide association studies (GWAS). The frequencies of alleles, genotypes and haplotypes of CDKN2B-AS gene were present separately for entire group of patients, females and males, and may be used as reference data of Russian population.


Subject
Biology Specific subject area Genetics Type of data Value of the data • The frequencies of alleles, genotypes and haplotypes for five SNPs such as rs1063192, rs7865618, rs2157719, rs944800 and rs4977756 of the CDKN2B-AS1 gene are presented separately for entire sample, males and females with POAG from Russian population. • The data on the allele, genotype and haplotypes frequencies represent a resource for conducting meta-analyses of genetic studies on POAG. • Allele, genotype and haplotype frequencies of the CDKN2B-AS1 gene polymorphisms and linkage disequilibrium values can be used as reference data for further population and genetic association studies of common diseases.

Data Description
The dataset represents the raw data (supplementary Table), frequencies of alleles, genotypes ( Table 1 ) and haplotypes ( Table 2 ) for five SNPs (rs1063192, rs7865618, rs2157719, rs944800 and rs4977756) of the CDKN2B-AS gene in Russian patients with POAG. These SNPs are found to be associated with the risk of POAG in previously published GWAS ( Table 3 ) [1][2][3][4][5][6][7][8][9][10] . These SNPs possess the regulatory potential ( Table 4 ), as demonstrated by several eQTLs ( Table 5 ) and splicing QTLs ( Table 6 ). The frequencies of alleles, genotypes and haplotypes for the SNPs are provided separately for three groups: entire sample, females and males. No significant differences in the allele, genotype and haplotype frequencies were found between the males and females groups.

Study subjects
A study sample was comprised of 536 patients with POAG, including 290 females and 246 males. The study participants were examined at the Division of Eye Microsurgery of Saint Joasaph's Belgorod Regional Clinical Hospital. The patients with POAG were unrelated Russians, residents of the Central Russia [11] . The subjects were enrolled for the study according to criteria described elsewhere [12] . All study participants signed a written informed consent in accordance with the principles of the Helsinki Declaration.  Table 3 The literature data about associations of the studied polymorphisms CDKN2B-AS1 gene with POAG and optic disc characteristics (GWAS data).
DNA samples were genotyped using the MALDI-TOF mass spectrometry iPLEX platform (Agena Bioscience Inc, San Diego, CA). Concentration of DNA varied from 10 to 15 ng/mL. Assay Design Suite 1.0 (http:// agenabio.com/assay-design-suite-10-software) was used to design a multiplex genotyping assay. About 5% of blind replicate samples were included for quality control of genotyping, and the repeatability test resulted in a 100% concordance rate.

Statistical analysis
Allele frequencies were estimated by the gene counting method, and the chi-square test was applied to identify significant departures from Hardy-Weinberg equilibrium (HWE). Differences in allele, genotype and haplotype frequencies between the study groups (females and males) were analyzed by the Kruskal-Wallis test. The haplotypes for the SNPs of the CDKN2B-AS1 gene were constructed using an algorithm implemented in the PLINK software, v. 2.050 [16] ( http: //zzz.bwh.harvard.edu/plink/ ).

Declaration of Competing Interest
The authors declare that they have no competing financial interests or personal relationships which have, or could be perceived to have, influenced the work reported in this article.