Tian W, Cai J H, Wang F, Li L X, Cao Y
Immunogenetics Research Group, Department of Immunology, College of Basic Medical Sciences, Central South University, Changsha, Hunan, China.
Tissue Antigens. 2010 Mar;75(3):227-34. doi: 10.1111/j.1399-0039.2009.01427.x. Epub 2009 Dec 18.
In this study, we investigated human leukocyte antigen (HLA)-G0105N and the 14 bp deletion/insertion polymorphism in exon 8 of the HLA-G gene in 600 individuals from two southern Chinese Han populations (Hunan Han and Guangdong Han) and two northern Chinese populations (Inner Mongolia Han and Inner Mongolia Mongol), we also studied the linkage disequilibrium (LD) between HLA-G and HLA-A locus in these four populations. Our data showed that (1) the allele and haplotype frequencies of HLA-G and HLA-A loci did not differ significantly between the two southern Chinese Han populations, and showed remarkable homogeneity in the two northern Chinese populations; (2) HLA-G0105N had significantly higher frequencies in the two northern Chinese populations with a frequency of 10.1% in the Inner Mongolia Han population, HLA-G 14 bp deletion/insertion frequency did not differ significantly between the southern and northern Chinese populations; (3) Ewens-Watterson homozygosity statistics at HLA-G0105N, HLA-G 14 bp deletion/insertion polymorphism and HLA-A were consistent with neutral expectations for all populations; (4) HLA-G0105N allele harbored the HLA-G 14 bp insertion in exon 8 and was linked to HLA-A30, five HLA-G0105N homozygotes were detected in the four populations; (5) haplotypes HLA-A30-HLA-G0105N and HLA-A02-HLA-G 14 bp deletion were in significant LD across four populations, other LD patterns were more population-specific. Our data suggest that HLA-A30-HLA-G0105N-HLA-G 14 bp insertion is a conserved haplotype, the ethnic and/or geographic difference in HLA-G0105N and HLA-G 14 bp distribution could largely be attributable to demographic factors other than selection. The LD patterns uncovered will facilitate the understanding of HLA-G role in associations previously described between HLA-A subregion and diseases.
在本研究中，我们调查了来自中国南方两个汉族人群（湖南汉族和广东汉族）以及中国北方两个群体（内蒙古汉族和内蒙古蒙古族）的600名个体的人类白细胞抗原（HLA）-G0105N以及HLA-G基因第8外显子的14bp缺失/插入多态性，我们还研究了这四个人群中HLA-G与HLA-A基因座之间的连锁不平衡（LD）。我们的数据表明：（1）中国南方两个汉族人群中HLA-G和HLA-A基因座的等位基因和单倍型频率无显著差异，而中国北方的两个人群表现出显著的同质性；（2）HLA-G0105N在中国北方两个人群中的频率显著更高，内蒙古汉族人群中的频率为10.1%，中国南方和北方人群之间HLA-G 14bp缺失/插入频率无显著差异；（3）HLA-G0105N、HLA-G 14bp缺失/插入多态性和HLA-A的Ewens-Watterson纯合性统计结果与所有群体的中性预期一致；（4）HLA-G0105N等位基因在第8外显子中携带HLA-G 14bp插入，并与HLA-A30连锁，在这四个人群中检测到五个HLA-G0105N纯合子；（五）单倍型HLA-A30-HLA-G0105N和HLA-A02-HLA-G 14bp缺失在四个人群中存在显著的LD，其他LD模式更具人群特异性。我们的数据表明，HLA-A30-HLA-G0105N-HLA-G 14bp插入是一种保守的单倍型，HLA-G0105N和HLA-G 14bp分布的种族和/或地理差异很大程度上可能归因于选择以外的人口因素。所发现的LD模式将有助于理解HLA-G在先前描述的HLA-A亚区域与疾病之间关联中的作用。
