西班牙黑色素瘤患者中HLA-II的多态现象:HLA-DQA1基因座的纯合性可能为黑色素瘤的一个潜在危险因素  

HLA class II polymorphisms in Spanish melanoma patients: Homozygosity for HLA-DQA1 locus can be a potential melanoma risk factor

作　　者：Planelles D. Nagore E. Moret A. 吴佳纹 

机构地区：[1]Laboratory of Histocompatibility-Molecular Biology, Centro de Transfusión de la Comunidad Valenciana, Avenida del Cid, 65-A, 46014-Valencia, Spain

出　　处：《世界核心医学期刊文摘（皮肤病学分册）》2006年第6期22-22,共1页Digest of the World Core Medical JOurnals:Dermatology

摘　　要：Background: The association of melanoma with HLA class II loci is under extensive debate. Different investigators have found discrepant results due to, at least in part, sample size, patient series heterogeneity, choice of control population and differences in the techniques employed for the detection of HLA antigens and alleles. Objectives: This study was designed to analyse the possible association of melanoma with HLA class II loci with regard to different clinic pathological factors and to investigate other risk factors for melanoma susceptibility, such as HLA homozygosity. Patients and methods: HLA-DRB1,-DQA1 and -DQB1 genotyping was performed for 117 eastern Spanish patients presenting with primary melanoma. Results: Although there were no significant alterations in the phenotypic frequencies of HLA-DQA1, -DQB1 or -DRB1 alleles in any subgroup of patients when compared with controls, patients exhibited a statistically significant increase in HLA-DQA1 homozygosity rate. This DQA1 homozygosity-specific association was particularly dependent on some features in melanoma patients such as light hair colour, skin type I or II, early age at diagnosis, absence of atypical naevi, or abscence of atypical naevus syndrome phenotype (aetiological fractions about 10-20%). Analysis of homozygosity for single DQA1 alleles showed an increased homozygosity rate for DQA1*0505 and DQA1*0301 in comparison with controls. These DQA1 alleles are in strong linkage disequilibrium with DQB1*0301 in white populations, and DQB1*0301 homozygous individuals were significantly increased in red in or fair-haired patients (relative risk 5.65). Conclusions: Our results indicate that the contribution of HLA class II alleles to primary melanoma incidence is not significant in the Spanish population. However, homozygosity for the HLA-DQA1 locus (and,perhaps, for the HLA-DQB1*0301 allele) might be considered a potential risk factor for developing melanoma depending on the person’s genetic background and,perhaps, on certain environmental conditBac Ⅱ 1 kground： The association of melanoma with HLA class oci is under extensive debate. Different investigators have found discrepant results due to, at least in part, sample size, patient series heterogeneity, choice of control population and differences in the techniques employed for the detection of HLA antigens and alleles. Objectives： This study was designed to analyse the possible association of melanoma with HLA class Ⅱ loci with regard to different clinic pathological factors and to investigate other risk factors for melanoma susceptibility, such as HLA homozygosity. Patients and methods： HLA-DRB1, -DQA1 and -DQB1 genotyping was performed for 117 eastern Spanish patients presenting with primary melanoma. Results： Al- though there were no significant alterations in the phenotypic frequencies of HLA-DQA1, - DQB1 or - DRB1 alleles in any subgroup of patients when compared with controis, patients exhibited a statistically significant increase in HLA-DQA1 homozygosity rate. This DQA1 homozygosity-specific association was particularly dependent on some features in melanoma patients such as light hair colour, skin type Ⅰ or Ⅱ, early naevi, or abscence of （aetiologicalfractions age at diagnosis, absence of atypical atypical naevus syndrome phenotype about 10 - 20% ） . Analysis of homozygosity for single DQA1 alleles showed an increased homozygosity rate for DQA1 ＊ 0505 and DQA1 ＊ 0301 in comparison with controls. These DQA1 alleles are in strong linkage disequilibrium with DQB1 ＊ 0301 in white popula-tions, and DQB1 ＊ 0301 homozygous individuals were significantly increased in red in or fair-haired patients （relative risk 5.65） . Conclusions： Our resulis indicate that the contribution of HLA class Ⅱ alleles to primary melanoma incidence is not significant in the Spanish population. However, homozygosity for the HLA-DQA1 locus （and, perhaps, for the HLA-DQB1 ＊ 0301 allele） might be considered a potential risk factor for developing melanoma depending on the person＇s ge

关 键 词：HLA-Ⅱ等位基因 HLA-DQA1 原发性黑色素瘤 潜在危险因素 基因座 西班牙 纯合 患者 DRB1等位基因 多态现象 

分 类 号：R581[医药卫生—内分泌] R544.1[医药卫生—内科学]