Association of HLA-DRB1 alleles and neuropsychological function in autism

Chien, Yi‐Ling; Wu, Yu‐Yu; Chen, Chia‐Hsiang; Gau, Susan Shur‐Fen; Huang, Yu-Shu; Chien, Wei-Hsien; Hu, Fu‐Chang; Chao, Yu-Lin

doi:10.1097/ypg.0b013e32834915ae

Cited by 38 publications

(31 citation statements)

References 21 publications

(27 reference statements)

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“…In addition, patients with autism and DR4, DR11, or DR14 had different performance on intelligence and neuropsychology tests. Despite a relatively small sample size and a case-control association design, the fi ndings suggest HLA-DRB1 gene might be associated with autism in Han Chinese (31).…”

Section: Discussionmentioning

confidence: 80%

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

Trajkovski¹,

Спироски²

2015

BLL

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Abstract:In the present study, we report the fi rst DNA analysis of HLA class I and class II alleles in Macedonian autistic subjects. We have analyzed the HLA-A, -C, -B, DRB1 genotypes of 35 autistic patients, and 98 healthy unrelated Macedonians (control group). HLA DNA typing of class I genes was performed using a Reverse Line Strip method (RLS), and the Sequencing Based Typing method (SBT) was used for typing of class II genes. In the autistic subjects for HLA-A locus 14 alleles have been identifi ed with 2 being predominant *02 (25.7 %), and *24 (18.6 %). Among the 11 identifi ed HLA-C alleles, 3 were predominant such as *12 (20.0 %), *07 (17.1 %), and *03 (12.9 %). Among the 18 identifi ed HLA-B alleles, 2 were predominant: *51 (18.6 %), and *18 (11.4 %). For HLA-DRB1 locus, 10 alleles have been identifi ed with 2 of them predominant such as: *11 (21.4 %), and *01 (14.3 %). The allele and haplotype frequencies in the patients group were compared to those of 98 control subjects. Our results showed signifi cantly increased frequencies of HLA-C*03 (OR = 2.74*; χ 2 = 4.68; p = 0.03), and HLA-DRB1*01 (OR = 3.10*; χ 2 = 6.26; p = 0.012) alleles in autistic patients when compared to the controls.

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Section: Discussionmentioning

confidence: 80%

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

Trajkovski¹,

Спироски²

2015

BLL

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“…Among the top-ranking genes were members of the HLA family ( HLA-A , HLA-DPA1 , and MICC ) as well as genes encoding for proteins involved in acetylcholine transport and synthesis ( SLC18A3 and CHAT ). A growing number of studies suggest a role for the HLA family of genes in different psychiatric disorders such as schizophrenia, autism, and depression (Chien et al , 2012; Sullivan et al , 2012; Al-Hakbany et al , 2014; Kodavali et al , 2014; Morgan et al , 2016). However, although this report recalls the potential involvement of the HLA family in ADHD, conflicting results exist regarding this matter (Odell et al , 1997; Payton et al , 2003; Aureli et al , 2008).…”

Section: Discussionmentioning

confidence: 99%

Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder

Shinwari

Yemni

Alnaemi

et al. 2017

Psychiatric Genetics

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AimGenetic and clinical complexities are common features of most psychiatric illnesses that pose a major obstacle in risk-gene identification. Attention deficit hyperactivity disorder (ADHD) is the most prevalent child-onset psychiatric illness, with high heritability. Over the past decade, numerous genetic studies utilizing various approaches, such as genome-wide association, candidate-gene association, and linkage analysis, have identified a multitude of candidate loci/genes. However, such studies have yielded diverse findings that are rarely reproduced, indicating that other genetic determinants have not been discovered yet. In this study, we carried out sib-pair analysis on seven multiplex families with ADHD from Saudi Arabia. We aimed to identify the candidate chromosomal regions and genes linked to the disease.Patients and methodsA total of 41 individuals from multiplex families were analyzed for shared regions of homozygosity. Genes within these regions were prioritized according to their potential relevance to ADHD.ResultsWe identified multiple genomic regions spanning different chromosomes to be shared among affected members of each family; these included chromosomes 3, 5, 6, 7, 8, 9, 10, 13, 17, and 18. We also found specific regions on chromosomes 8 and 17 to be shared between affected individuals from more than one family. Among the genes present in the regions reported here were involved in neurotransmission (GRM3, SIGMAR1, CHAT, and SLC18A3) and members of the HLA gene family (HLA-A, HLA-DPA1, and MICC).ConclusionThe candidate regions identified in this study highlight the genetic diversity of ADHD. Upon further investigation, these loci may reveal candidate genes that enclose variants associated with ADHD. Although most ADHD studies were conducted in other populations, our study provides insight from an understudied, ethnically interesting population.

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“…From the same study, an increased disease risk was found among families with history of autoimmune disease [31]. Furthermore, a study from china found that DR4, DR11, and DR14 had a different effect on intelligence and neuropsychology tests among autistic children [32], unlike an earlier study, which shows no significant association between autism and HLA [33]. …”

Section: Discussionmentioning

confidence: 99%

The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A Case Control Study

Alhakbany

Awadallah

Al-Ayadhi

2014

Autism Research and Treatment

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Earlier reports showed the relationship between autism and immune genes located in the human leukocyte antigen (HLA). In this current study, we compared the HLA class I and class II alleles and haplotypes in 35 autistic children with 100 control subjects from Saudi Arabia, using PCR-SSP method and Luminex technology. In class I the HLA-A*01 (P = 0.03, OR 2.68), A*02 (P = 0.001, OR 3.02) and HLA-B*07 (P = 0.01, OR 3.27), were significantly associated with autism. Also, the haplotype A*02-B*07 was significantly higher in autistic patients than in controls (P = 0.007, OR 5.83). In class II, DRB1*1104 was significantly higher in patients than in controls (P = 0.001, OR 8.75). The DQB1*0202 (P = 0.001, OR 0.24), DQB1*0302 (P = 0.001, OR 0.14), and DQB1*0501 (P = 0.012, OR 0.25), were negatively associated with disease. While the four-loci genotype study showed that A*01-B*07-DRB1*0701-DQB1*0602 (P = 0.001, OR 41.9) and the A*31-B*51-DRB1*0103-DQB1*0302 (P = 0.012, OR 4.8) are positively associated with autism among Saudi patients. This is the first report on a foreseeable risk of association of HLA-B*07 allele with autism. Thus, HLA-B*07 allele and the closely linked haplotype A*01 B*07 DRB1*0701 DQB1*0602 may serve as a marker for genetic susceptibility to autism in Saudis.

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Association of HLA-DRB1 alleles and neuropsychological function in autism

Cited by 38 publications

References 21 publications

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

DNA typing of HLA-A, -C, -B, AND -DRB1 in the children with autism in the Republic of Macedonia

Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder

The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A Case Control Study

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