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Prenatal and Genetic Magnesium Deficiency in Cardiomyopathy: Possible Vitamin and Trace Mineral Interactions
Published in Fima Lifshitz, Childhood Nutrition, 2020
Genetic Factors in Control of Magnesium Levels in Plasma and Erythrocytes—Studies of identical and fraternal twins have shown that red cell magnesium is significantly more similar in monozygotic than in dizygotic twins and among family members than in unrelated subjects.21–23,58 Association of major histocompatibility complex human leukocyte antigens (HLA) alleles have been shown to regulate red blood cell magnesium in humans; H–2 alleles are involved in mice genetically selected for low red cell magnesium.22,23 HLA-B38 carriers, among blood donors, have lower plasma and red cell magnesium levels than do other genetically related groups.23,59
Nerve Growth Factor and Its Receptor System in Rheumatologic Diseases and Pain Management
Published in Siba P. Raychaudhuri, Smriti K. Raychaudhuri, Debasis Bagchi, Psoriasis and Psoriatic Arthritis, 2017
Smriti K. Raychaudhuri, Siba P. Raychaudhuri
Psoriasis has long been known to occur in families. Approximately 40% of patients with psoriasis or PsA have a family history of these disorders in first-degree relatives [7]. The HLA antigens B13, B17, B39, and Cw6 occur with increased frequency in both psoriasis and PsA when compared with the general population [8]. In PsA, additional associations have been found with HLA-B27, chiefly in patients with predominant spinal disease, HLA-B38, HLA-B39, and the class II antigen HLA-DR4 [8].
Epidemiology, Pathogenesis, and Genetics of Ankylosing Spondylitis
Published in Barend J. van Royen, Ben A. C. Dijkmans, Ankylosing Spondylitis Diagnosis and Management, 2006
Andrew E. Timms, B. Paul Wordsworth, Matthew A. Brown
As described earlier, the requirement for the presence of β2m is inconsistent between mouse models. Nonetheless, the development of spondyloarthritis in the absence of B27 has led to the hypothesis that B27 may not be causing spondy-loarthritis by a mechanism involving traditional peptide presentation to cytotoxic T-lymphocytes. B27 has been demonstrated to have many unusual properties in comparison with other class I antigens which may explain these findings. An unusual structural feature of B27 is the presence of an unpaired cysteine residue at position 67 (Cys67) in the B pocket of the peptide-binding groove. Although the Cys67 is seen in other HLA molecules not associated with AS (HLA-B38, -B39, -B14, -B15, and -B73), the presence of Cys67 with other unusual residues in the B pocket, such as the lysine at position 70, may result in some of the unique properties of B27 (60). Misfolding of B27 occurs to a greater extent than with other class I antigens, and appears to be related to the composition of its B pocket (61). B27 molecules can form homodimers, through the formation of disulfide bonds involving the unpaired B-pocket Cys67 residue, and possibly other residues. Misfolded and homodimeric B27 tends to accumulate in the ER and be slowly degraded in the cytosol, and it has been hypothesized that this may cause disease, perhaps through the generation of “stress responses” in the ER (62,63). B27 homodimer formation and accumulation in the ER has recently been demonstrated to occur in B27-transgenic rats (64). Interestingly, this did not appear to be dependent on the presence of Cys67, contradicting earlier in vitro studies (65). Strains with serine substituted for Cys67-produced homodimers, although to a lesser extent than rats not carrying the substitution. They also developed disease, albeit milder than Cys67 B27-transgenic rats (63).
The HLA-B*13:01 and the dapsone hypersensitivity syndrome in Korean and Asian populations: genotype- and meta-analyses
Published in Expert Opinion on Drug Safety, 2020
Hye Jung Park, Jung-Won Park, Sae Hoon Kim, So-Yun Choi, Hee-Kyoo Kim, Chang-Gyu Jung, Min-Suk Yang, Dong Yoon Kang, Min-Kyoung Cho, Hyouk-Soo Kwon, Hye-Ryun Kang, Yong Won Lee
Associations between specific allele types and particular drug-induced hypersensitivity varies between ethnicities [19]. For example, HLA-B*15:02 is a well-known allele associated with carbamazepine-induced drug hypersensitivity in parts of Asia [20–22]. However, HLA-B*31:01 [23], HLA-B*15:11 [24], HLA-B*59:01 [25], and HLA-B*38:01 [26] have been proposed as additional allele types associated with carbamazepine-induced drug hypersensitivity in European, Korean, and Japanese populations, respectively. In addition, other drugs, such as phenytoin, lamotrigine, and abacavir also have been shown as likely to induce drug hypersensitivity depending on allele type and ethnicity [19,27,28]. Data concerning significant associations between HLA-B*13:01 and dapsone in Chinese and Thai populations have previously been reported; ours is the first study examining this association in a Korean population.
Pharmacogenomics of drugs used to treat brain disorders
Published in Expert Review of Precision Medicine and Drug Development, 2020
SCN1A, CYP2C9, CYP2C19 and ABCB1 variants affect phenytoin metabolism. CYP2C9 and CYP2C19 polymorphisms are associated with lower phenytoin maintenance dosage in Asian patients. CYP2C19*2/*2, CYP2C19*3/*3, CYP2C19*2/*3 and heterozygous CYP2C9*3 variants require lower phenytoin maintenance dosage [242]. Phenytoin may cause cutaneous ADRs with variable severity (maculopapular exanthema, eosinophilia, Stevens-Johnson syndrome, toxic epidermal necrolysis). At least 16 SNPs in CYP2C genes at 10q23.33 may contribute to this adverse effect. CYP2C9*3 carriers show a clear propensity to phenytoin-related severe cutaneous ADRs [243]. HLA-A*33:03, HLA-B*38:02, HLA-B*51:01, HLA-B*56:02, HLA-B*58:01, and HLA-C*14:02 are associated with phenytoin-related skin ADRs in Thais [244]. In a preemptive genetic test for the prevention of phenytoin-related skin ADRs in Taiwan, Thailand, and Japan, CYP2C9*3, HLA-B*13:01, HLA-B*15:02, and HLA-B*51:01 were found to be associated with phenytoin hypersensitivity [245].
Stevens-Johnson syndrome and toxic epidermal necrolysis: risk factors, causality assessment and potential prevention strategies
Published in Expert Review of Clinical Immunology, 2020
Chu-Chi Lin, Chun-Bing Chen, Chuang-Wei Wang, Shuen-Iu Hung, Wen-Hung Chung
Our recent study further showed that HLA‐B*57:01 allele was strongly associated with CBZ‐induced SJS/TEN in Europeans (corrected P value = 1.83 × 10–5, OR = 9.0, 95% CI = 4.2‐19.4) [40]. For OXC, our previous study has shown that HLA-B*15:02 is strongly associated with OXC-induced SJS/TEN (corrected P = 1.12 × 10–9, OR = 27.90, 95% CI 5 7.84–99.23) in Asians but that the strength of association of OXC-induced SJS was weaker than that of CBZ-induced SJS/TEN [41]. For LTG-induced MPE, HLA-A*02:07 and HLA-B*15:02 had higher proportion when compared to the tolerant controls in Thailand [42]. For LTG-induced SJS/TEN, HLA-B*38 [43], HLA-B*15:02 [44] as well as HLA-B*44:03 [45] had been reported to be significantly associated with patients in Europeans Han Chinese and Korean, respectively. It should be noted that a case report has shown that co-administration LTG with valproic acid (VPA) can cause SJS in children. This phenomenon may be caused by VPA decreasing the clearance of LTG [46].