Department of Medical Genetics, University of Pecs, Medical School, Szigeti 12, Pecs, H-7624, Hungary.
Human Genetic and Pharmacogenomic Research Group, Janos Szentagothai Research Centre, Ifjusag 20, Pecs, H-7624, Hungary.
Pathol Oncol Res. 2019 Oct;25(4):1349-1355. doi: 10.1007/s12253-018-0388-6. Epub 2018 Feb 17.
Age-related hearing impairment (ARHI) is the most frequent sensory disease in the elderly, which is caused by an interaction between genetic and environmental factors. Here we examined the ethnic differences, allele and genotype frequencies of the NAT2, GRM7, and GRHL2 genes pooled samples of healthy Hungarian and healthy and hearing impaired Roma people. Study populations of healthy Hungarian and Roma subjects were characterized for the rs1799930 NAT2, rs11928865 GRM7, rs10955255, rs13263539, and rs1981361 GRHL2 polymorphisms and deaf Roma subjects were characterized for the rs1799930 NAT2, rs13263539, and rs1981361 GRHL2 using a PCR-RFLP method. We found significant differences in minor allele frequencies for GRHL2 rs13263539 and rs1981361 polymorphism between healthy Roma and Hungarian samples (37.9% vs. 51.0% and 43.6% vs. 56.2%, respectively; p < 0.05). The differences of homozygous genotype of GRHL2 rs13263539 and rs1981361 variants, values were also significantly different (13.0% vs. 25.3% and 16.5 vs. 32.3%; p < 0.05). The NAT2 rs1799930 homozygous genotype was 14.0% in healthy Romas and 7.7% in Hungarians, while the minor A allele frequency was 38.0% and 26.7% in Roma and Hungarian population, respectively (p < 0.05). Furthermore, the frequency of GGT, GAC and GAT haplotypes was significantly higher in the Hungarian population than in healthy Roma (1.87 vs. 4.47%, 0.91 vs. 2.07% and 1.15 vs. 5.51%, respectively; p < 0.008). Present study revealed significant interethnic differences in allele polymorphisms of NAT2, GRM7 and GRHL2 exhibit quite marked ethnic differences in Roma populations that might have important implications for the preventive and therapeutic treatments in this population.
年龄相关性听力损失(ARHI)是老年人中最常见的感觉疾病,它是由遗传和环境因素相互作用引起的。在这里,我们检查了健康的匈牙利人和健康的和听力受损的罗姆人 pooled 样本中 NAT2、GRM7 和 GRHL2 基因的种族差异、等位基因和基因型频率。健康的匈牙利和罗姆人研究人群的特征是 rs1799930 NAT2、rs11928865 GRM7、rs10955255、rs13263539 和 rs1981361 GRHL2 多态性,而耳聋的罗姆人研究人群的特征是 rs1799930 NAT2、rs13263539 和 rs1981361 GRHL2 使用 PCR-RFLP 方法。我们发现,健康的罗姆人和匈牙利人样本之间 GRHL2 rs13263539 和 rs1981361 多态性的次要等位基因频率存在显著差异(分别为 37.9%比 51.0%和 43.6%比 56.2%;p<0.05)。GRHL2 rs13263539 和 rs1981361 变体的纯合基因型的差异,数值也有显著差异(分别为 13.0%比 25.3%和 16.5%比 32.3%;p<0.05)。NAT2 rs1799930 纯合基因型在健康的罗姆人中为 14.0%,在匈牙利人中为 7.7%,而 A 等位基因的频率在罗姆人和匈牙利人中分别为 38.0%和 26.7%(p<0.05)。此外,匈牙利人群中 GGT、GAC 和 GAT 单倍型的频率明显高于健康的罗姆人(1.87 比 4.47%,0.91 比 2.07%和 1.15 比 5.51%;p<0.008)。本研究显示,NAT2、GRM7 和 GRHL2 基因的等位基因多态性存在显著的种族差异,罗姆人种群中存在明显的种族差异,这可能对该人群的预防和治疗有重要意义。