Increased prevalence of the CVD-associated ANRIL allele in the Roma/Gypsy population in comparison with the majority Czech population

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.

摘要 心血管疾病（CVD）是全球范围内的主要致死性疾病之一，在发达国家居住的罗姆人/吉普赛少数族群中，其患病率位居全球最高水平。目前尚不明确此类差异是否由不健康生活方式或遗传因素所引发。本研究旨在检测位于CDKN2A/2B抑制基因位点附近的长链非编码RNA ANRIL（antisense non-coding RNA in the INK4 locus）中9p21位点的rs10757274多态性的基因型频率。现有研究表明，ANRIL是高加索人群中心血管疾病最强的遗传决定因素。本研究采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对298名非罗姆人成年受试者（男性占比50%，平均年龄39.5±15.1岁）及302名罗姆人/吉普赛成年受试者（男性占比50%，平均年龄39.2±12.8岁）的ANRIL rs10757274多态性进行了分析。结果显示，非罗姆人群中ANRIL的GG、GA、AA基因型频率分别为20.1%、52.4%和27.5%，罗姆人/吉普赛人群中则分别为32.9%、47.9%和19.2%；两组间基因型分布差异具有统计学意义（P < 0.001）。在罗姆人/吉普赛族群中，我们检测到与心血管疾病相关的GG基因型患病率升高。罗姆人/吉普赛人群中心血管疾病患病率升高，可能与其遗传背景存在显著关联。