Fernández O, Fernández V, Martinez-Cabrera V, Mayorga C, Alonso A, León A, Arnal C, Hens M, Luque G, de Ramón E, Caballero A, Leyva L
Institute of Clinical Neurosciences, Hospital Regional Universitario Carlos Haya, Malaga, Spain.
Tissue Antigens. 2008 May;71(5):426-33. doi: 10.1111/j.1399-0039.2008.01016.x. Epub 2008 Feb 28.
Occasional reports have mentioned the prevalence of multiple sclerosis (MS) among Gypsies, and no studies have examined to date the prevalence of MS or human leukocyte antigen (HLA) genetics associations in the Spanish Gypsy population. We decided to study the prevalence, mitochondrial DNA (mtDNA) haplogroups and HLA class II distribution among gypsies with MS in southern Spain. We searched for Gypsy MS patients and studied HLA class II alleles by polymerase chain reaction with sequence-specific oligonucleotide (PCR/SSO) probe hybridization or sequence-specific primers amplification. An additional study of the mtDNA haplogroups by sequencing of the hypervariable segments of the control region was also performed to provide details of their ethnic origin. Estimated prevalence of MS in the Gypsy population in Malaga was 52/100,000. No significant differences were found in mtDNA between Gypsy MS patients and Gypsy controls. DRB11501, DQB10602 and DQB10608 alleles were the only positive HLA association with MS. The Gypsies in our series have the same anthropological origin as other European gypsy groups, as shown by mtDNA haplogroups. Although interpreted with great caution because of the small sample size, we found that the prevalence of MS in Gypsies in Malaga is not as low as that in Central Europe, although it is significantly less than that found in Caucasians from Spain (75-79/100,000). DQB10602 was the strongest positive association found with Gypsy MS patients, and DRB11501-DQB10602 was the most frequent haplotype in this group.
偶尔有报告提及吉普赛人中多发性硬化症(MS)的患病率,而迄今为止尚无研究调查西班牙吉普赛人群中MS的患病率或人类白细胞抗原(HLA)遗传学关联。我们决定研究西班牙南部患有MS的吉普赛人的患病率、线粒体DNA(mtDNA)单倍群及HLA II类分布情况。我们寻找吉普赛MS患者,并通过聚合酶链反应与序列特异性寡核苷酸(PCR/SSO)探针杂交或序列特异性引物扩增来研究HLA II类等位基因。还通过对控制区高变区进行测序对mtDNA单倍群进行了额外研究,以提供其种族起源的详细信息。马拉加吉普赛人群中MS的估计患病率为52/100,000。在吉普赛MS患者和吉普赛对照之间,mtDNA未发现显著差异。DRB11501、DQB10602和DQB10608等位基因是与MS唯一呈阳性关联的HLA。正如mtDNA单倍群所示,我们研究系列中的吉普赛人与其他欧洲吉普赛群体有着相同的人类学起源。尽管由于样本量小需谨慎解读,但我们发现马拉加吉普赛人中MS的患病率并不像中欧那么低,不过明显低于西班牙白种人(75 - 79/100,000)。DQB10602是与吉普赛MS患者发现的最强阳性关联,而DRB11501 - DQB10602是该组中最常见的单倍型。