{"title":"西班牙乳糜泻患者及其一级亲属HLA-DQB1等位基因的研究","authors":"M. Y. Ruiz, José L. Olivares","doi":"10.1002/1438-826X(200112)2:4<159::AID-GNFD159>3.0.CO;2-0","DOIUrl":null,"url":null,"abstract":"<p>Celiac disease (CD) susceptibility is strongly associated with the HLA alleles DQA1 0501 and DQB1 02*. To investigate this, we performed a study which included thirty celiac children and sixty-five first-degree relatives of them. DQB1 genotyping was performed by PCR (polymerase chain reaction) amplification. The allele frequencies in each group were compared by Chi-square test (χ<sup>2</sup>) using Yates correction and Fisher test. Most patients (70%) were positive for DQB1 0201. HLA-DQB1 0201 was found in 61% of the first-degree relatives. 58% of the patients showed heterozygosity for DQB1 0201, whereas 12% of the celiac patients were homozygous for DQB1 0201. These findings support the role of DQB1 0201 alleles as a risk factor for celiac disease. No significant differences could be detected in the HLA-DQB1 allele distribution between celiac patients and their first-degree relatives.</p>","PeriodicalId":100573,"journal":{"name":"Gene Function & Disease","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2001-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1438-826X(200112)2:4<159::AID-GNFD159>3.0.CO;2-0","citationCount":"0","resultStr":"{\"title\":\"Study of HLA-DQB1 alleles in Spanish celiac patients and their first-degree relatives\",\"authors\":\"M. Y. Ruiz, José L. Olivares\",\"doi\":\"10.1002/1438-826X(200112)2:4<159::AID-GNFD159>3.0.CO;2-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Celiac disease (CD) susceptibility is strongly associated with the HLA alleles DQA1 0501 and DQB1 02*. To investigate this, we performed a study which included thirty celiac children and sixty-five first-degree relatives of them. DQB1 genotyping was performed by PCR (polymerase chain reaction) amplification. The allele frequencies in each group were compared by Chi-square test (χ<sup>2</sup>) using Yates correction and Fisher test. Most patients (70%) were positive for DQB1 0201. HLA-DQB1 0201 was found in 61% of the first-degree relatives. 58% of the patients showed heterozygosity for DQB1 0201, whereas 12% of the celiac patients were homozygous for DQB1 0201. These findings support the role of DQB1 0201 alleles as a risk factor for celiac disease. No significant differences could be detected in the HLA-DQB1 allele distribution between celiac patients and their first-degree relatives.</p>\",\"PeriodicalId\":100573,\"journal\":{\"name\":\"Gene Function & Disease\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2001-10-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1002/1438-826X(200112)2:4<159::AID-GNFD159>3.0.CO;2-0\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene Function & Disease\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/1438-826X%28200112%292%3A4%3C159%3A%3AAID-GNFD159%3E3.0.CO%3B2-0\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Function & Disease","FirstCategoryId":"1085","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/1438-826X%28200112%292%3A4%3C159%3A%3AAID-GNFD159%3E3.0.CO%3B2-0","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Study of HLA-DQB1 alleles in Spanish celiac patients and their first-degree relatives
Celiac disease (CD) susceptibility is strongly associated with the HLA alleles DQA1 0501 and DQB1 02*. To investigate this, we performed a study which included thirty celiac children and sixty-five first-degree relatives of them. DQB1 genotyping was performed by PCR (polymerase chain reaction) amplification. The allele frequencies in each group were compared by Chi-square test (χ2) using Yates correction and Fisher test. Most patients (70%) were positive for DQB1 0201. HLA-DQB1 0201 was found in 61% of the first-degree relatives. 58% of the patients showed heterozygosity for DQB1 0201, whereas 12% of the celiac patients were homozygous for DQB1 0201. These findings support the role of DQB1 0201 alleles as a risk factor for celiac disease. No significant differences could be detected in the HLA-DQB1 allele distribution between celiac patients and their first-degree relatives.