Abstract Cardiovascular disease (CVD) is a major cause of death around the world, with highest prevalence reported in minority Roma/Gypsy populations living in developed countries. Whether these differences are caused by unhealthy lifestyles or genetic factors remain unknown. The aim of our study was to examine the genotype frequencies of the rs10757274 polymorphism in the 9p.21 locus within ANRIL (antisense non-coding RNA in the INK4 locus), a long non-coding RNA located in the vicinity of the CDKN2A/2B inhibitors loci. ANRIL is understood to be the strongest genetic determinant of CVD in Caucasians. Using PCR-RFLP, we analysed the ANRIL rs10757274 polymorphism in 298 non-Roma (50% male) and 302 Roma/Gypsy (50% male) adult (39.5 ± 15.1 years and 39.2 ± 12.8 years, respectively) subjects. We found that frequencies of the ANRIL GG, GA and AA genotypes were 20.1%, 52.4% and 27.5% in the majority population and 32.9%, 47.9% and 19.2% in Roma/Gypsy subjects, respectively. The distribution of genotypes was deemed significantly different at P < 0.001. Within the Roma/Gypsy population, we detected increased prevalence of the CVD-associated GG genotype. Increased prevalence of CVD among Roma/Gypsies subjects may be significantly linked to genetic background.

中文翻译：

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与大多数捷克人群相比，罗姆人/吉普赛人群中与CVD相关的ANRIL等位基因的患病率增加

摘要心血管疾病（CVD）是世界范围内的主要死亡原因，在发达国家的少数罗姆人/吉普赛人中，患病率最高。这些差异究竟是由不健康的生活方式还是由遗传因素引起的，仍然未知。我们研究的目的是研究ANRIL（INK4基因座中的反义非编码RNA）（位于CDKN2A / 2B附近的一个长非编码RNA）内9p.21位点rs10757274多态性的基因型频率。抑制剂基因座。ANRIL被认为是白种人中最强的CVD遗传决定因素。使用PCR-RFLP，我们分析了298名非罗姆人（50％男性）和302名罗姆人/吉普赛人（50％男性）成年人（分别为39.5±15.1岁和39.2±12.8岁）受试者的ANRIL rs10757274多态性。我们发现ANRIL GG的频率 在大多数人群中，GA和AA基因型分别为20.1％，52.4％和27.5％，在罗马/吉普赛受试者中分别为32.9％，47.9％和19.2％。基因型的分布被认为在P <0.001时有显着差异。在罗姆人/吉普赛人中，我们发现了与CVD相关的GG基因型的患病率增加。吉普赛人/吉普赛人中CVD的患病率升高可能与遗传背景显着相关。