Lack of association of CCR4 single nucleotide polymorphism with atopic dermatitis in Japanese patients

CCR4, a member of the CC chemokine receptor family, is believed to play an important role in the pathogenesis of atopic dermatitis. To examine whether CCR4 single nucleotide polymorphism (SNP) is associated with susceptibility to atopic dermatitis, we investigated the allele and genotype frequencies of C1014T SNP of CCR4 in 198 Japanese patients with atopic dermatitis and controls by a PCR-restriction fragment length polymorphism method. There was no significant difference in allele or genotype frequencies between patients with atopic dermatitis and controls. Serum IgE levels and peripheral blood eosinophil counts were not significantly different among genotypes. There was also no significant difference in allele or genotype frequencies between the patient subgroup with and without asthma, with mild or moderate disease, with and without family history of atopic dermatitis, or with and without family history of atopic disorders. C1014T SNP of CCR4 does not appear to be associated with susceptibility to atopic dermatitis in Japanese patients.     

Interleukin-13 gene polymorphism G4257A is associated with atopic dermatitis in Japanese patients

Interleukin (IL)-13 plays an important role in the induction of immunoglobulin E (IgE) and in the pathogenesis of atopic dermatitis (AD). We investigated the allele and genotype frequencies of three IL-13 single nucleotide polymorphisms (SNPs) (A704C and C1103T in the promoter region and G4257A in exon 4) in Japanese patients with AD. For A704C and C1103T SNPs, there were no significant differences in allele or genotype frequencies between AD patients and controls. For G4257A SNP, A allele was significantly increased in AD patients (39.5%) compared with controls (29.4%) (P = 0.016). The same proportion of each genotype and allele was observed in the patient subgroup with and without asthma. Serum IgE levels and peripheral eosinophil counts were not significantly different among genotypes in G4257A SNP. There was also no significant difference in allele or genotype frequencies between AD patients with mild disease and those with severe disease, between those with family history of AD and those without it, or between those with family history of atopic disorders and those without it. This result suggests that 4257A allele is associated with susceptibility to AD and that it may function in the pathogenesis of AD itself, presumably by other mechanisms than inducing IgE production.     

Eotaxin gene single nucleotide polymorphisms in the promoter and exon regions are not associated with susceptibility to atopic dermatitis,but two of them in the promoter region are associated with serum IgE levels in patients with atopic dermatitis

Eotaxin is believed to play an important role in atopic dermatitis (AD) as a potent chemoattractant and activator of eosinophils and Th2 lymphocytes. The eotaxin gene is located at chromosome 17q21.1-q21.2, and linkage findings of AD on chromosome 17 were reported. Recently we have identified single nucleotide polymorphisms (SNPs) of eotaxin gene (-426C > T, -384A > G, 67G > A). To learn whether eotaxin gene SNPs are associated with susceptibility to AD or phenotypes of AD, we investigated the genotype frequencies at each SNP of the gene in AD patients and in controls. We examined 140 Japanese AD patients and 140 healthy Japanese individuals. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism method. No significant difference was observed in allele or genotype frequencies of any SNP between AD patients and controls. Serum immunoglobulin E (IgE) levels were significantly lower in CT and TT genotype than in CC (P = 0.038) in -426C > T SNP, and lower in GG than in AA and AG with borderline significance (P = 0.053) in -384A > G SNP in AD patients. Eotaxin gene SNPs in the promoter and exon regions are not associated with susceptibility to AD, but two of them in the promoter region are associated with phenotype of AD.     

IL-33和IL1RL1基因单核苷酸多态性与特应性皮炎相关性研究

目的：分析IL-33和IL1RL1基因单核苷酸多态性(SNPs)与特应性皮炎（AD）的相关性。方法：PCR-SSP方法检测89例AD患者和138名正常对照组受试者IL-33和IL1RL1编码基因的等位基因和基因型频率。结果：AD患者的IL-33 rs1800925 C等位基因的频率高于对照组，而T等位基因和rs764706552等位基因G低于对照组（均P＜0.001）。IL-33 rs1800925基因型CC和rs764706552基因型CG与AD显著正相关（均P＜0.001）。两组患者的IL1RL1基因的等位基因和基因型频率无明显差异（均P＞0.05）。结论：IL-33基因可能与AD的发病相关。     

The -431C>T polymorphism of thymus and activation-regulated chemokine increases the promoter activity but is not associated with susceptibility to atopic dermatitis in Japanese patients

BACKGROUND: Thymus and activation-regulated chemokine (TARC) plays an important role in the pathogenesis of atopic dermatitis (AD). We recently detected the single nucleotide polymorphism (SNP) (-431C>T) in the 5'-flanking region of TARC gene. OBJECTIVES: To examine whether the -431C>T SNP of the TARC gene is associated with susceptibility to AD and whether it affects the promoter activity of the TARC gene. METHODS: We investigated the genotype and allele frequencies of the SNP in 193 AD patients and 158 healthy controls by polymerase chain reaction-restriction fragment length polymorphism method. We compared the promoter activities between TARC promoter carrying 431C and that carrying -431T by transient-transfection assay in DJM-1 cell line. RESULTS: There were no significant differences in genotype or allele frequencies between AD patients and controls (genotype: P = 0.38, allele: P = 0.22). Luciferase activity was higher in -431T constructs than in -431C constructs (2.3-fold, P = 9.5 x 10(-6)). CONCLUSION: These results suggest that the -431C>T SNP of the TARC gene enhances the promoter activity of TARC gene but is not associated with susceptibility to AD in Japanese population.     

Association of estrogen receptor 1 intron 1 C/T polymorphism in Korean vitiligo patients

BACKGROUND: Vitiligo is a common disease characterized by cutaneous white maculae due to loss of melanocytes. It is a polygenic disease, however, the exact pathogenesis of vitiligo is not yet known. The estrogen receptor (ESR) 1 gene was selected as a candidate gene because some researchers treated vitiligo successfully with the steroid-thyroid hormone mixture containing estrogen. Furthermore ESR was expressed in the melanocytes which have an important role in the pigmentation. The polymorphisms of ESR1 gene in vitiligo patients was not reported yet. OBJECTIVE: To determine whether polymorphisms of ESR1 gene were associated with susceptibility to vitiligo patients in Korean population. METHODS: We conducted case-control association study of vitiligo patients (120) and healthy controls (254). Genotypes of ESR1 gene (intron 1 C/T, exon 4 C/G, and exon 8 A/G) were determined by polymerase chain reaction followed by restriction enzyme digestion. RESULTS: Intron 1 T/C allele frequency was significantly different between patients and controls (P = 0.034). Intron 1 T/C genotype distribution (P = 0.021) and allele frequency (P = 0.013) were different between female vitiligo patients and female controls. Intron 1 T/C allele frequency showed significantly difference between generalized type of vitiligo patients and controls (P = 0.044). Genotype distributions and allele frequencies of exon 4 C/G and exon 8 A/G polymorphisms were not different between patients and controls. CONCLUSION: The present study suggests that ESR1 may be a possible risk factor for female or generalized type of vitiligo patients.     

Lack of association between the promoter polymorphisms at positions -308 and -238 of the tumor necrosis factor alpha gene and psoriasis vulgaris in Japanese patients

BACKGROUND: Psoriasis features an increased level and activity of tumor necrosis factor alpha (TNF-alpha). The TNF-alpha gene has single nucleotide polymorphisms (SNPs) at positions -308 (-308G>A) and -238 (-238G>A) in the promoter region, and the -238G>A SNP has been reported to be associated with psoriasis vulgaris (PV) and psoriatic arthritis in Caucasians. OBJECTIVE: To examine whether these SNPs are associated with susceptibility to PV in Japanese patients, we investigated the genotype and allele frequencies at each SNP in Japanese PV patients and in controls. METHODS: We examined 163 PV patients and 96 healthy individuals. Genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: No significant association between the genotypes or alleles of these SNPs and susceptibility to PV was observed. CONCLUSION: These SNPs themselves are not associated with susceptibility to PV in the Japanese.     

Brain-derived neurotrophic factor gene polymorphisms and serum levels in Chinese atopic dermatitis patients

Background  Brain-derived neurotrophic factor (BDNF) plays an important role in the pathogenesis of atopic dermatitis (AD). Whether BDNF gene polymorphisms are associated with Chinese AD remains totally unknown.
Objective  The aim is to determine if BDNF gene C270T and G196A polymorphisms are associated with Chinese AD, and analyse the clinical relevance of BDNF gene polymorphisms and BDNF serum levels.
Methods  We conducted a case-control association analysis (160 patients and 169 controls) in Northern Chinese subjects. Genotyping was performed by restriction fragment length polymorphism, and serum levels of BDNF were measured using enzyme-linked immunosorbent assay.
Results  For C270T, there were significant differences in C/T genotype distribution ( P  = 0.003) and T allele frequencies ( P  = 0.004) between AD patients and controls in the whole dataset. Higher C/T genotype frequencies were found in male AD (10.6% vs. 1.1%, P  = 0.018) and in intrinsic AD (IAD; 15.79% vs. 2.91%, P  = 0.008). No association between G196A polymorphism and AD was observed in the whole cohort, while A allele was much more frequent in AD patients with atopy in first-degree relatives (65.8% vs. 34.2%, P  = 0.038). Serum BDNF levels were correlated with IAD severity as measured by Scoring Atopic Dermatitis index ( r  = 0.576, P  < 0.001).
Conclusion  T allele in C270T may be a risk factor for AD, especially in IAD and male AD. A allele in G196A may be a risk factor in AD patients with atopy in first-degree relatives. Serum BDNF levels were correlated with the severity of IAD.     

广西壮族、汉族系统性红斑狼疮与Toll样受体9基因多态性研究

目的 探讨TLR9单核苷酸多态性与广西系统性红斑狼疮（SLE）患者发病的相关性,以及其在壮族、汉两个民族间的差异。 方法 聚合酶链反应-限制性酶切技术、聚合酶链反应-限制性片段长度多态性分析技术（PCR-RFLP）对97例广西SLE患者和202例广西健康对照者的TLR9基因多态性进行检测,分析其基因型和等位基因频率与SLE部分临床实验室指标的关联性,并比较两民族间的差异。 结果 TLR9 rs352140CC、CT、TT基因型频率在汉族SLE组与汉族对照组中分别为42.9%、41.1%、16.1%和38.3%、55.8%、5.8%,差异有统计学意义（P < 0.05）,其C、T等位基因频率差异无统计学意义（P > 0.05）。TLR9rs352140 C/T基因型频率和等位基因频率在壮族SLE组与壮族健康对照组间、壮族SLE组与汉族SLE组间差异无统计学意义（均P > 0.05）。TLR9 rs352140TT基因型频率在ds-DNA阳性组比阴性组高（P < 0.05）,而T等位基因频率在两组间差异无统计学意义（P > 0.05）。TLR9 rs352140TT基因型频率和T等位基因的频率在SLEDAI ≥ 9组比SLEDAI < 9组高,差异有统计学意义（均P < 0.05）。TLR9 rs352140TT基因型频率和T等位基因的频率在ANA阳性组与阴性组间差异无统计学意义（均P > 0.05）。 结论 TLR9 rs352140基因多态性可能与广西汉族人SLE的易感性有关, TLR9基因多态性与部分SLE指标可能具有相关性。     

雌激素受体-α基因多态性与白癜风相关性研究

目的探讨雌激素受体-α(ER-α)基因多态性与白癜风的相关性。方法应用PCR-RFLP分析技术,检测690例汉族白癜风患者和700例汉族对照者ER-α基因内含子1PvuⅡT/C和XbaIA/G酶切位点基因多态性。结果白癜风组与对照组之间C/T基因型频率(P=0.000)差别有显著性意义,其C等位基因频率亦明显高于对照组(P=0.000,OR1.33,95%CI1.14~1.51);女性患者C/T基因型频率(P=0.001)、C等位基因频率(P=0.002,OR1.41,95%CI1.13~1.75)亦明显高于女性对照组;男性患者和男性对照组C等位基因频率(P=0.043,OR1.25,95%CI1.01~1.56)差别有显著性意义;ER-α基因内含子1XbaⅠA/G酶切多态性男性患者G等位基因频率(P=0.040,OR1.32,95%CI1.01~1.71)明显高于男性对照组;其余各组间差别无显著性意义(P>0.05)。结论ER-α基因PvuII酶切多态性与白癜风存在相关性,携带C等位基因的女性患者更易患白癜风。XbaI酶切多态性可能与男性白癜风患者之间存在相关性。提示ER-α可能是白癜风患者易感性的备选因素。     

A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis

BACKGROUND: Although genetic analyses have identified the HLA-Cw*0602 allele as the major risk allele for chronic plaque psoriasis in various ethnic groups, it has been proposed that the association of Cw*0602 is due to linkage disequilibrium and that other nearby genes are involved in susceptibility to psoriasis. The psoriasis susceptibility 1 candidate 1 (PSORS1C1, formerly SEEK1) gene, located 127 kb telomeric to the HLA-C locus, is considered to be one of the potential candidate genes of psoriasis. Up to the present, no association study of the PSORS1C1 gene has been conducted on Chinese patients with psoriasis. OBJECTIVES: We aimed to determine whether the genetic polymorphisms of the PSORS1C1 gene were associated with an increased risk of psoriasis in Chinese patients. METHODS: We investigated the PSORS1C1 gene for disease association by direct sequencing of the PSORS1C1 gene in 143 Chinese patients with chronic plaque psoriasis and 188 control subjects. Genotyping for HLA-Cw*0602 and the alpha-helix coiled-coil rod homologue (C6orf18, formerly HCR) gene was also carried out using a sequence-based typing method. RESULTS: We identified 10 single nucleotide polymorphisms (SNPs) on the PSORS1C1 gene in our subjects; four of these SNPs cause amino acid change. We also detected poly(C) repeat variants from nucleotide positions 386-392 (poly(C)6-8). The poly(C) repeat polymorphisms cause a frame shift mutation. Another poly(C) repeat variant was also found at nucleotide positions 748-751. No significantly different allelic distributions of the PSORS1C1 SNPs or poly(C) repeat polymorphisms could be found between the patients with chronic plaque psoriasis and controls after correction for multiple testing. However, a significant increase of the Cw*0602 allele and tryptophan-tryptophan allele of the C6orf18 gene (HCR*WW) was found in patients with early onset psoriasis (21.9% vs. 4.8%, P < 10(-7)). Haplotype-based association analysis also showed a susceptibility haplotype carrying Cw*0602 and HCR*WW alleles in early onset Chinese patients. CONCLUSIONS: Our results indicate that the PSORS1C1 gene might not play an important role in the causation of chronic plaque psoriasis in Chinese people.     

Association of the interleukin-10 distal promoter (-2763A/C) polymorphism with late-onset psoriasis

Polymorphisms of the IL-10 promoter have been implicated in the genetic susceptibility to many autoimmune diseases, including psoriasis. Four putative functional single-nucleotide polymorphisms (SNPs) within the interleukin-10 promoter region (-3575T/A, -2763A/C, -1082G/A and -592C/A) were analysed in 139 patients with chronic plaque psoriasis and in 155 unrelated healthy controls from Thailand. There were no significant differences in the allele frequencies of any of the four SNPs between patients with psoriasis and controls. However, the frequency of the -2763A allele was increased in patients with late-onset psoriasis compared with controls and patients with early-onset psoriasis [OR=2.94, 95% CI 1.16-7.39, corrected P value (Pc)=0.04 and OR=3.26, 95% CI 1.13-9.51, Pc=0.048, respectively]. The AAGC (-3575/-2763/-1082/-592) haplotype frequency was higher in late-onset compared with early onset psoriasis (OR=4.37, 95% CI 1.24-15.97, Pc=0.027). This study suggests that the -2763A allele and the extended AAGC haplotype can be used as a genetic marker for susceptibility to late-onset psoriasis in a Thai population.     

Investigation of the eotaxin gene -426C-->T, -384A-->G and 67G-->a single-nucleotide polymorphisms and atopic dermatitis in Italian children using family-based association methods.

BACKGROUND: Eotaxin plays an important role in atopic dermatitis (AD) as a potent chemoattractant and activator of eosinophils and T-helper 2 lymphocytes. AIM: To investigate whether single-nucleotide polymorphisms of the eotaxin gene are associated with AD, we investigated the genotype and allelic frequencies of -426C-->T, -384A-->G, and 67G-->A SNPs in 130 Italian families. METHODS: In total, 130 children with either the extrinsic allergic or intrinsic nonallergic forms of AD (EAD and IAD) were recruited from 130 families. Genotyping was performed using PCR and restriction fragment length polymorphism analysis. RESULTS: A significant difference was observed in the genotype frequency of the -426C-->T SNP between children with EAD and those with IAD (P = 0.01), and between children with EAD and controls (P = 0.01). The allele frequencies of the -426C-->T SNP were significantly different between children with EAD and those with IAD (P < 0.01), and between children with EAD and controls (P < 0.01). For children with EAD, the genotype frequency of the -426C-->T SNP was no different between the groups with mild, moderate and severe SCORAD (P = NS). No significant association was observed between the -384A-->G and 67G-->A SNPs and the two groups of children with EAD and IAD compared with the control group. In 32 trios selected from 68 EAD families, the transmission disequilibrium test showed a preferential transmission of the -426T allele from the parents to affected offspring (P < 0.01). CONCLUSIONS: Our results suggest that in our group of children with AD, the eotaxin gene may play a crucial role in the development of extrinsic AD, probably with other genetic factors.     

CD40基因多态性及血清水平与系统性红斑狼疮发病机制的相关研究

目的 探讨CD40基因单核苷酸多态性（SNP）及其单倍型与SLE易感性的相关性,分析CD40基因型及血清水平与系统性红斑狼疮（SLE）的相关性。 方法 单碱基延伸的PCR技术（PCR-SBE）和DNA测序法分析205例SLE患者和220例健康对照CD40基因rs1883832 C/T、 rs13040307 C/T、rs752118 C/T 和rs3765459 G/A的多态性,同时用ELISA检测血清CD40水平。 结果 与健康对照组相比,SLE组血清CD40水平显著增高（P < 0.05）。SLE组与健康对照组CD40基因rs1883832 C/T位点基因型和等位基因频率比较,差异有统计学意义（P < 0.01）。等位基因频率的相对风险分析后发现,携带有rs1883832 T等位基因的受试者患有SLE的风险是rs1883832 C等位基因的1.517倍（OR = 1.517,95% CI 1.157 ~ 1.990,P = 0.003）;携带rs1883832 T等位基因的SLE患者血清CD40水平与不携带者相比,结果显著增高（P < 0.01）。通过联合基因型分析发现,SLE组中携带单倍型TCCA的患者较健康对照组显著增加了发病的风险（OR = 2.322,95% CI 1.181 ~ 4.564,P = 0.012）。 结论 CD40基因rs1883832 C/T多态性和TCCA单倍型与SLE的发病有相关性,其中rs1883832 T等位基因可能是SLE的遗传易感基因。     

Human arylamine N-acetyltransferase 2 polymorphism and susceptibility to allergic contact dermatitis

BACKGROUND: N-acetyltransferase 2 (NAT2) polymorphism may be involved in the pathogenesis of allergic contact dermatitis. OBJECTIVE: The present study was designed to evaluate whether acetylation polymorphism plays a role in the susceptibility to p-Phenylenediamine (PPD) sensitization. METHODS: The frequencies of seven NAT2 point mutations, namely G191A, C282T, T341C, C481T, G590A, A803G, and G857A, and genotypes were determined by PCR/RFLP in a total of 70 patients with allergic contact dermatitis to PPD and 100 control subjects with no history of allergy, atopy, lung disease, diabetes mellitus and cancer. RESULTS: Genotypes coding rapid acetylation were detected in 52.9% and 37.0% of patients with contact dermatitis and control subjects, respectively (P = 0.04). The frequency of the NAT2*4 allele and NAT2*4/*4 genotype, coding for rapid acetylation, were also significantly higher in the contact dermatitis patients than in the control subjects (P = 0.003). CONCLUSION: Our results suggest an association between rapid acetylation polymorphism and susceptibility to PPD sensitization.     

Psoriasis vulgaris in Chinese individuals is associated with PSORS1C3 and CDSN genes

BACKGROUND: Besides the HLA-Cw*0602 allele, the psoriasis susceptibility 1 candidate 3 (PSORS1C3) and corneodesmosin (CDSN) genes are two probable psoriasis susceptibility genes in the PSORS1 locus. The -79C, -26C and +246A alleles of the PSORS1C3 gene, the CDSN*971T allele, CDSN*TTC (619T-1236T-1243C) and CDSN*5 (619T-1240G-1243C) are strongly associated with psoriasis in the caucasian population. Until now, no haplotype study of the PSORS1C3 and CDSN genes has been documented in Chinese patients with psoriasis vulgaris. OBJECTIVES: We aimed to determine whether genetic polymorphisms of the PSORS1C3 and CDSN genes were associated with an increased risk of psoriasis vulgaris in Chinese patients in Taiwan. METHODS: We investigated the PSORS1C3 and CDSN genes for disease association by direct sequencing in 178 patients with psoriasis vulgaris and 203 control subjects. Genotyping for HLA-Cw*0602, alpha-helix coiled-coil rod homologue (HCR) gene and single nucleotide polymorphism (SNP) n.9 was also carried out using a sequence-based typing method. RESULTS: The PSORS1C3*582A allele, an SNP in the 3'-untranslated region of the PSORS1C3 gene, was a major psoriasis vulgaris susceptibility allele in the Chinese population, and the association was much stronger in patients with early-onset psoriasis vulgaris (22.3% vs. 6.9%, odds ratio = 3.87, P(c) =0.0000072). The frequencies of CDSN*TTC and CDSN*971T were also significantly increased in patients with early-onset psoriasis vulgaris. Moreover, PSORS1C3*582A, SNP n.9*C, Cw*0602 and HCR*WWCC were in near complete linkage disequilibrium (LD) with each other; in contrast, the LD with the CDSN gene was not so strong. SNP n.9*C-Cw*0602-PSORS1C3*582A-HCR*WWCC was a major susceptibility haplotype in patients with early-onset psoriasis vulgaris (P < 10(-7)) and this risk haplotype also carried CDSN*TTC and CDSN*971T. CONCLUSIONS: The PSORS1C3 and CDSN genes are important psoriasis susceptibility genes in Chinese patients with psoriasis vulgaris.     

Heterogeneity of interleukin 5 genetic background in atopic dermatitis patients: significant difference between those with blood eosinophilia and normal eosinophil levels

BACKGROUND: Blood eosinophil levels in patients with atopic dermatitis vary widely during exacerbation of the disease. We considered that in addition to environmental factors, the genetic background involved with elevating blood eosinophil levels might be heterogeneous among atopic dermatitis patients. OBJECTIVE: We attempted to determine whether a polymorphism of the interleukin (IL)5 gene plays a role in atopic dermatitis, particularly in those patients with blood eosinophilia. Due to the close relation of blood eosinophilia to high IgE productivity, we also assessed these polymorphisms in patients with high IgE concentrations. METHODS: We determined the genotype of the IL5 polymorphism -703C/T in 451 atopic dermatitis patients and 116 normal subjects. The patients were classified into three groups by blood eosinophil levels; less than 7%, from 7 to 15%, and more than 15%, as well as by serum IgE concentrations; less than 500 IU/ml, from 500 to 2000 IU/ml, and more than 2000 IU/ml. RESULTS: IL5 -703C/T was not significantly associated with either total atopic dermatitis patients or individual patients who had both blood eosinophilia and high IgE productivity. However, the distribution of the IL5 -703C/T genotype was significantly different between patients with either blood eosinophilia or high IgE productivity and those without either condition (P=0.0476, P=0.0088, respectively). CONCLUSION: These results suggest that the IL5 gene may play a role in blood eosinophilia associated with atopic dermatitis. We also considered that the IL5 -703C/T gene polymorphism does not have a direct relationship to disease specificity.     

IL1A‐889 C/T gene polymorphism in irritant contact dermatitis

Background Upon skin contact to irritants, interleukin‐1 alpha (IL‐1α) is released in the stratum corneum as a primary step of skin inflammation. Variations in the IL‐1A gene have been shown to alter the expression of IL‐1α. This may influence the susceptibility to skin inflammation and the development of irritant contact dermatitis (ICD). Objective To determine effects of an IL1A‐889 C/T polymorphism in view of susceptibility to develop irritant contact dermatitis. Methods In a case–control study, 478 Caucasian patients with occupational ICD of the hands were genotyped for an IL1A‐889 C/T polymorphism. Results were compared to 393 apprentices from the same high risk occupations (controls). Results Trends of a protective effect of the C→T transition at position IL1A‐889 were seen (OR = 0.81; 95% CI: 0.65–1.00). The genotype distribution for IL1A‐889 was 52.2% wild type (C/C), 39.2% heterozygous (C/T) and 8.6% homozygous for variant allele (T/T) in patients and 46.0%, 42.7% and 11.4% in controls. Subgroup analysis, which took into account atopy status and exposure, did not reveal a significant effect of this polymorphism for an aberrant risk to acquire for ICD. Conclusion Our study indicates a possible protective effect of the IL1A‐889 C/T polymorphism regarding the development of ICD.     

代谢综合征相关基因多态性与蒙古族寻常型银屑病的相关性及与HLA-C*06：02交互作用研究

【摘要】 目的 探讨代谢综合征相关基因多态性与蒙古族寻常型银屑病（PsV）的相关性及其与HLA-C*06：02的交互作用。方法 内蒙古医科大学附属医院2012年12月至2018年3月住院的379例蒙古族PsV患者及518例蒙古族健康对照。选择16个既往报道的与代谢综合征及其包含疾病相关的单核苷酸多态性（SNP）及HLA-C*06：02，利用二代测序法和聚合酶链反应-序列特异性引物（PCR-SSP）对受试者进行基因分型。计算蒙古族PsV组及对照组16个变异位点及HLA-C*06：02的最小等位基因频率，χ2检验比较两组各SNP位点的最小等位基因频率差异。结果 蒙古族PsV患者中16个代谢综合征易感SNP位点最小等位基因频率与健康对照比较，差异无统计学意义（均P > 0.05），而HLA-C*06：02位点的最小等位基因频率差异有统计学意义（P = 4.09 × 10-35，OR = 3.41）。HLA-C* 06：02阳性受试者中，252例PsV患者的rs7593730_T和rs6931514_G最小等位基因频率与191例健康对照相比差异有统计学意义（P = 0.016，OR = 0.64；P = 0.041，OR = 1.33）；而在HLA-C*06：02阴性受试者中，两组间16个SNP位点的最小等位基因频率差异均无统计学意义（P > 0.05）。结论 rs7593730和rs6931514与内蒙古地区蒙古族寻常型银屑病可能相关，与HLA-C*06：02可能存在交互作用。     

Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor

IgE dysregulation is a major pathogenic feature of atopic dermatitis and other IgE-mediated allergic diseases such as asthma and rhinitis. Allergen complexed to IgE binds to the high affinity receptor for IgE (FcεRI) on the surface of epidermal Langerhans cells, mast cells and basophils, triggering the release of inflammatory mediators. The β subunit of FcεRI has been localized to human chromosome 11q12–13, and variants within this gene have been shown to associate with asthma and measures of atopy. We have tested several polymorphisms within FcεRI-β for association to atopic dermatitis in a panel of 60 families (panel A), recruited through a proband with atopic dermatitis. The findings were tested in a second panel of families (panel B). Significant sharing of maternal alleles was seen for atopic dermatitis and allele 2 of Rsa I intron 2 ( Rsa I _in2*2 ) ( P  = 0.0022) and allele 1 of Rsa I exon 7 ( Rsa I _ex7*1 ) ( P  = 0.0036) FcεRI-β gene polymorphisms. These findings were replicated in Panel B, confirming the association of FcεRI-β Rsa I polymorphisms with atopic dermatitis. The combined significance of the association of atopic dermatitis to Rsa I polymorphisms was P  = 0.0002 ( Rsa I _in2*2 ) and P  = 0.00034 ( Rsa I _ex7*1 ). The polymorphisms also showed association with asthma: P  = 0.0068 ( Rsa I _in2*2 ) and P  = 0.018 ( Rsa I _ex7*1) . Polymorphisms within the FcεRI-β gene are strongly associated with atopic dermatitis.