SNP Panel Analysis of Ancestry Inference in East Asian Populations / 法医学杂志

Objective To develop an SNP Panel for East Asian population, which has a high individual identification rate and the capability of ancestry analysis. Methods The 55 SNP Panel by Professor KIDD of Yale University and the 128 SNP Panel by Professor SELDIN of Davis School of California University, 170 SNP Panel in total was used as the basis and its test data in the East Asian population was collected. The genetic parameters of SNP loci were calculated and combined with the results of heatmap analysis to screen SNP loci suitable for East Asian population. Some Tibetan and Han samples were tested. The possibility of using the SNP loci in ancestry inference was analyzed by means of STRUCTURE analysis, principal component analysis and heatmap analysis. Results A Panel with 45 SNPs （45 SNP Panel） was screened out, and the average genetic parameters of each SNP were better than 170 SNP Panel, with the same ancestry analysis and inference ability. Conclusion In terms of ancestry inference information, the 45 SNP Panel can completely replace the 170 SNP Panel and achieve the same ancestry analysis and inference ability. In genetic parameters, 45 SNP Panel is better than 170 SNP Panel in the East Asian population, which shows its important potential forensic application value.

Meta-analysis on relationship between single nucleotide polymorphism of rs2231142 in ABCG2 gene and gout in East Asian population / 中华流行病学杂志

Objective To systematically evaluate the association between single nucleotide polymorphism of rs2231142 genetic susceptibility and gout in East Asian population.Methods The literature retrieval was conducted by using English databases (Medline, EMbase), Chinese databases (CNKI, Vip, Wanfang, SinaMed) and others to collect the published papers on the association between single nucleotide polymorphism of rs2231142 genetic susceptibility and gout by the end of December 2014.Meta-analysis was performed with software Stata 12.0.Results Nine studies were included.There were significant associations between increased risk of gout and single nucleotide polymorphism of rs2231142, the combined OR was 2.04 (95％ CI: 1.82-2.28)for A allele and C allele, 1.97 (95％ CI: 1.57-2.48) for CA and CC, 3.71 (95％ CI: 3.07-4.47) for AA and CC.Sex and region specific subgroup analysis showed less heterogeneity.Conclusion There is significant association between gout and single nucleotide polymorphism of rs2231142 in East Asian population,and A allele is a high risk gene for gout.

Molecular epidemiology of epidermal growth factor receptor mutations in lung cancers in Indian population.

BACKGROUND: Lung cancer is the leading cause of cancer related mortality world‑wide and amongst males in India. The discovery of tyrosine kinase inhibitors holds a ray of hope for a subset of lung cancer patients, which have activating epidermal growth factor receptor (EGFR) mutations. Much of the preliminary data on frequency of EGFR mutations emanated from Western studies, which reported EGFR mutation rates of 10‑15%. However, studies from Asian countries report a much higher frequency of EGFR mutations, not only in the male population, but also in females. AIM: The object of this study was to share the author’s experience of EGFR mutation testing in 402 lung cancer patients as no large‑scale study addressing the issue has been published from India. MATERIALS AND METHODS: Formalin fixed paraffin embedded tissues were analyzed for EGFR exon 19 deletions and exon 21 point mutation by length analysis of fluorescently labeled polymerase chain reaction products on Applied Biosystems Inc. 310 genetic analyzer. RESULTS: Out of 402 samples, 35 samples could not be analyzed because of poor deoxyribonucleic acid material. Thus of the remaining 367 cases analyzed, EGFR mutations were found in 118 patients (32%). Mutations were equally distributed between males (50%) and females (50%). Majority of the mutations were seen in adenocarcinoma subtype (90%). Exon 19 mutations accounted for 76% while exon 21 mutations accounted for 24% of the mutations. SUMMARY: EGFR mutation frequency is higher in Indian population vis‑à‑vis Caucasian population, but lower than that reported in the East Asian population. A significantly higher number of males also harbor EGFR mutations.