Study on visual evoked related potentials in young adults of different COMT genotypes by using a numeric working memory task / 中国应用生理学杂志

<p><b>AIM</b>To explore the change of number working memory ability in healthy young adults, a continuous 3-back number working memory task were performed for an hour and 12 Blocks according to different COMT genotypes of young adults.</p><p><b>METHODS</b>18 different genotype subjects were chosen from 112 healthy young adults, P3 event-related potentials was utilized to observe the relationship between this COMT polymorphism and cortical physiology in a continuous working memory task.</p><p><b>RESULTS</b>Subjects bearing the Val/Val homozygote had significantly higher mean P3 amplitudes than Val/Met heterozygote (P < 0.01), however, no significant differences in comparison to Met/Met homozygote.</p><p><b>CONCLUSION</b>Val/Met Heterozygote subjects are associated with the poorest performance of working memory. There is a relationship between COMT genotype and P3 visual event-related potentials evoked from 3-back task.</p>

Association of polymorphisms of 1772 (C-->T) and 1790 (G-->A) in HIF1A gene with hypoxia adaptation in high altitude in Sherpas / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the association of single nucleotide polymorphisms (SNPs) of 1772 (C-->T) and 1790 (G-->A) in exon 12 of hypoxia-inducible factor 1, alpha subunit gene (HIF1A) with hypoxia adaptation in high altitude in Sherpas.</p><p><b>METHODS</b>The blood samples were chosen from 148 Sherpas in Tibet high altitude and 90 Han nationality healthy people in Guangdong province, and from which genomic DNA was extracted. The single nucleotide polymorphisms of 1772(C-->T) and 1790(G-->A) in exon 12 of HIF1A gene were examined by restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR).</p><p><b>RESULTS</b>The genotype frequency of HIF1A gene 1790 (G-->A) in Sherpas and Han nationality was 57.43% versus 75.56% in GG genotype, 37.84% versus 21.11% in GA genotype and 4.73% versus 3.33% in AA genotype. GG genotype frequency in Sherpas was lower than that in Han nationality (P<0.01), while GA genotype frequency in Sherpas was higher than that in Han nationality (P<0.01). No significant difference in CC, CT and TT genotype frequency of 1772(C-->T) was shown between two groups respectively. The total frequency of CC + GA, CT + AA, TT + GA and TT + AA in Sherpas was higher than that in Han nationality.</p><p><b>CONCLUSION</b>Polymorphisms of HIF1A gene 1790 (G-->A) are associated with hypoxia adaptation in high altitude in Sherpas. GA and AA genotype may be benefit to hypoxia adaptation, and it is worthy of deep-going investigation.</p>

A study on the relationship between glutathione S-transferases gene polymorphism and susceptibility response to hypoxia / 中国应用生理学杂志

<p><b>AIM</b>To investigate the relationship between glutathione S-transferases gene polymorphism and susceptibility response to hypoxia.</p><p><b>METHODS</b>In the case-control study, the gene polymorphisms of glutathione S-transferases were tested in Tibetan mountaineers and sea-level Han Chinese by multiple-PCR and PCR-RELP.</p><p><b>RESULTS</b>The frequency of GSTT1 null genotype was significant different between Tibetan mountaineers and sea-level Han Chinese (P < 0.05), OR = 1.86 (95% CI = 1.01-3.39), and also for GSTP(1-105) mutant genotype in two groups (P < 0.01), OR = 2.19 (95% CI = 1.16-4.13). There was significant difference between A allele and G allele of GSTP(1-105) groups (P < 0.01). There was no difference for GSTM1 null genotype between two groups (P > 0.05), OR = 0.78 (95% CI = 0.43 - 1.42).</p><p><b>CONCLUSION</b>GSTT1 and GSTP(1-105) genotype may be associated with susceptibility response to altitude hypoxia.</p>