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D-Y Hu, Y-Q Ren,
K-J Zhu,
Y-M Lv,
H Cheng,
Z Zhang,
Y Li,
S-M He,
J Tang,
J-L Liu,
Y Lin,
Y-Y Sun,
X-B Zuo,
G Chen,
L-D Sun,
S Yang,
X-J Zhang
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ABSTRACT: Human leucocyte antigen (HLA)-II alleles have been found to be associated with vitiligo in different populations, and several studies also suggested that HLA class II alleles/haplotypes were associated with a different type vitiligo. Of HLA class II alleles, DRB1*07 has consistently shown a positive association with vitiligo in Chinese Han population.
To further explore the relationship between DRB1*07 and vitiligo and to evaluate the DRB1*07 effect on the clinical features of vitiligo in Chinese Han population.
This study investigated DRB1*07 allele distribution in 1178 unrelated Chinese vitiligo patients and 1743 healthy controls using polymerase chain reaction/sequence specific primer method and observed clinical differences between DRB1*07 positive and DRB1*07 negative patients.
The analysis of the 1178 cases and 1743 controls revealed a highly association between DRB1*07 allele and vitiligo [odds ratio (OR) = 1.97, P = 2.13 × 10(-17) ]. DRB1*07 positive patients had early disease onset (OR = 1.49, P = 0.001), higher frequency of family history (OR = 1.44, P = 0.006) compared with DRB1*07 negative patients.
The DRB1*07 showed significant association with vitiligo in the study population. This study confirmed that DRB1*07 positive patients had some obvious clinical differences from DRB1*07 negative patients in the Chinese Han population.
Journal of the European Academy of Dermatology and Venereology 01/2011; 25(11):1299-303. · 2.98 Impact Factor
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Y M Ma,
Y H Liang,
S B Fu, Y Q Ren,
L Ma,
X Y Yin,
L D Sun,
Y Cui,
Y F Liu,
J Zhang,
W Huang,
M Gao,
Y Z Li
Journal of dermatological science 09/2010; 60(3):193-6. · 3.71 Impact Factor
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Journal of the European Academy of Dermatology and Venereology 07/2008; 22(6):745-6. · 2.98 Impact Factor
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L D Sun,
S Yang,
J J Liu, Y Q Ren,
X Fan,
S X Xu,
L Zhou,
C J Yang,
F L Xiao,
M Gao,
Y Cui,
W H Du,
W Huang,
X J Zhang
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ABSTRACT: Psoriasis is a common inflammatory and hyperproliferative skin disease. The pathogenesis of psoriasis remains obscure. Family and twin studies have suggested a strong genetic susceptibility to psoriasis. Eight linkage loci (PSORS1-7, PSORS9) were identified and accepted by the OMIM and an additional 16 susceptibility loci have been suggested so far.
To investigate further three suggested psoriasis susceptibility loci at 2p22.3-11.2, 13q21-32 and 17q22-25.3 in a Chinese population. Using an expanded sample of 180 Chinese families with psoriasis and improved marker coverage, we verified whether they were Chinese Han psoriasis susceptibility loci.
In total, 180 Chinese Han families with psoriasis vulgaris (including the 61 families used in the original genome-wide scan and 119 new families) were recruited from the Dermatology Department at the First Hospital Affiliated to Anhui Medical University. Two-point and multipoint parametric and nonparametric linkage (NPL) analyses were performed at 2p, 13q and 17q in the total 180 families as well as the 61 original and 119 new families separately.
At the region 2p, a maximum multipoint NPL score of 4.11 was identified at locus D2S337 (P=0.000003), and a maximum multipoint heterogeneity LOD (HLOD) score of 4.93 (alpha=54%) was identified at the same locus in the analysis of the 180 families. However, the analysis of the 180 families did not identify any significant linkage evidence at the region 13q21-32 [a maximum multipoint HLOD score of 0.10 (alpha=7%) and NPL score of 0.95 (P=0.14)] or the region 17q22-25.3 [a maximum multipoint HLOD score of 0.08 (alpha=6%) and NPL value of 0.94 (P=0.14)]. For these two regions, the LOD scores from the 180 families as well as the 119 new families were much smaller than the ones obtained from the original 61 families.
Our study indicates that 2p22.3-11.2 is a novel psoriasis susceptibility locus in the Chinese Han population and confirms that psoriasis is a genetically heterogeneous disease.
British Journal of Dermatology 04/2008; 158(3):512-7. · 3.67 Impact Factor
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L.D. Sun,
S. Yang,
J.J. Liu, Y.Q. Ren,
X. Fan,
S.X. Xu,
L. Zhou,
C.J. Yang,
F.L. Xiao,
M. Gao,
Y. Cui,
W.H. Du,
W. Huang,
X.J. Zhang
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ABSTRACT: Background Psoriasis is a common inflammatory and hyperproliferative skin disease. The pathogenesis of psoriasis remains obscure. Family and twin studies have suggested a strong genetic susceptibility to psoriasis. Eight linkage loci (PSORS1–7, PSORS9) were identified and accepted by the OMIM and an additional 16 susceptibility loci have been suggested so far.Objectives To investigate further three suggested psoriasis susceptibility loci at 2p22.3–11.2, 13q21–32 and 17q22–25.3 in a Chinese population. Using an expanded sample of 180 Chinese families with psoriasis and improved marker coverage, we verified whether they were Chinese Han psoriasis susceptibility loci.Methods In total, 180 Chinese Han families with psoriasis vulgaris (including the 61 families used in the original genome-wide scan and 119 new families) were recruited from the Dermatology Department at the First Hospital Affiliated to Anhui Medical University. Two-point and multipoint parametric and nonparametric linkage (NPL) analyses were performed at 2p, 13q and 17q in the total 180 families as well as the 61 original and 119 new families separately.Results At the region 2p, a maximum multipoint NPL score of 4·11 was identified at locus D2S337 (P = 0·000003), and a maximum multipoint heterogeneity LOD (HLOD) score of 4·93 (α = 54%) was identified at the same locus in the analysis of the 180 families. However, the analysis of the 180 families did not identify any significant linkage evidence at the region 13q21–32 [a maximum multipoint HLOD score of 0·10 (α = 7%) and NPL score of 0·95 (P = 0·14)] or the region 17q22–25.3 [a maximum multipoint HLOD score of 0·08 (α = 6%) and NPL value of 0·94 (P = 0·14)]. For these two regions, the LOD scores from the 180 families as well as the 119 new families were much smaller than the ones obtained from the original 61 families.Conclusions Our study indicates that 2p22.3–11.2 is a novel psoriasis susceptibility locus in the Chinese Han population and confirms that psoriasis is a genetically heterogeneous disease.
British Journal of Dermatology 02/2008; 158(3):512 - 517. · 3.67 Impact Factor
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S X Xu,
H L Wang,
X Fan,
L D Sun,
S Yang,
P G Wang,
F L Xiao,
M Gao,
Y Cui, Y Q Ren,
W H Du,
C Quan,
X J Zhang
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ABSTRACT: Acne is a chronic inflammatory disease of the pilosebaceous follicles. Recent studies bring us increasing evidences that hereditary factors play an important but indirect role in acne.
To investigate the possible role of genetic factors in the pathogenesis of acne vulgaris in Chinese Han ethnic group.
Volunteers of 975 acne cases and 580 controls were included, contributing 3009 and 1825 first-degree relatives, respectively. One thousand and eighty-five first-degree relatives of acne cases were affected with facial acne. This compared with 223 first-degree relatives of non-acne controls. The odds ratio was used to estimate the relative risk for acne vulgaris associated with having an affected first-degree relative.
The risk of acne vulgaris occurring in a relative of a patient with acne vulgaris was significantly greater than for the relative of an unaffected individual (odds ratio 4.05, 95% confidence interval (CI): 3.45-4.76, P<0.001).
Our study suggests that familial factors are important in determining individual susceptibility to acne vulgaris.
Journal of the European Academy of Dermatology and Venereology 05/2007; 21(5):602-5. · 2.98 Impact Factor
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ABSTRACT: Pachyonychia congenita is an autosomal dominant disorder that usually develops in early infancy. The major features of the syndrome are hypertrophic nail dystrophy, palmoplantar keratoderma and oral leucokeratosis, accompanied by other ectodermal defects, according to subtype.
To analyse the K6a gene mutation in a sporadic Chinese patient with pachyonychia congenita type 1 (PC-1) and to explore the relationship between the genotype and phenotype of PC-1.
Genomic DNA was extracted from peripheral blood of the patient with PC-1 and 100 unrelated controls. The whole coding region of K6a gene was amplified using long-range polymerase chain reaction (PCR); nested PCR was then used to amplify the mutation 'hot-spot' of the K6a gene. The PCR products were directly sequenced to detect the mutation.
A novel missense mutation L468Q in the helix 2B domain of the K6a polypeptide was identified in the patient but not in the healthy individuals from the family and 100 unrelated control individuals.
We describe this mutation for the first time, and provide further evidence that the helix boundary motif sequences of K6a are a mutation 'hot-spot'.
Journal of the European Academy of Dermatology and Venereology 04/2007; 21(3):351-5. · 2.98 Impact Factor
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X Y Zhao,
S Yang,
H L Zhou,
Y G Zhu,
L Wei,
W H Du, Y Q Ren,
Y H Liang,
Y X Hou,
J J Chen,
X J Zhang
British Journal of Dermatology 12/2006; 155(5):1070-3. · 3.67 Impact Factor
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ABSTRACT: Some studies have shown discrepancies in human leucocyte antigen (HLA) associated with alopecia areata (AA) between different ethnic populations.
To investigate whether HLA-I, -DQA1 and -DQB1 alleles and the HLA haplotype are associated with AA, and the correlation between the HLA haplotype profile, age of onset and severity of AA in Chinese Hans.
The polymerase chain reaction-sequence specific primer (PCR-SSP) method was used to analyse the frequencies of HLA class I, -DQA1 and -DQB1 alleles in 192 patients with AA and 252 controls in Chinese Hans. The linkage disequilibrium was calculated using the 2 x 2 table.
The 24 two-locus haplotypes [including A*02-B*18, A*02-B*27, A*02-B*52, A*02-Cw*0704, A*02-DQA1*0104, A*02-DQB1*0604, A*02-DQB1*0606, B*18-Cw*0704, B*18-DQA1*0104, B*18-DQA1*0302, B*18-DQB1*0606, B*27-Cw*0704, B*27-DQA1*0104, B*27-DQA1*0302, B*52-Cw*0704, B*52-DQA1*0104, B*52-DQA1*0302, B52-DQB1*0606, Cw*0704-DQA1*0104, Cw*0704-DQA1*0302, Cw*0704-DQB1*0606, DQA1*0104-DQB1*0604, DQA1*0104-DQB1*0606, DQA1*0302-DQB1*0606 (P<0.05)] were associated with AA, while eight extended haplotypes (A*02-B*18-DQA1*0104, A*02-B*27-DQA1*0104, A*02-B*52-DQA1*0104, A*02-B*52-DQA1*0302, A*02-B*52-DQB1*0606, B*52-Cw*0704-DQA1*0104, B*52-Cw*0704-DQA1*0302, A*02-B*52-DQA1*0302-DQB1*0606) were found to be related to AA in Chinese Hans. Through stratified analysis, we found that the extended haplotype B*52-Cw*0704-DQA1*0302 was related to early onset of AA, and no haplotype was only associated with severe AA.
This is the first detailed report to elucidate HLA haplotypes associated with AA and that demonstrates the significant HLA haplotypes in Chinese Hans AA. The haplotype B*52-Cw*0704-DQA1*0302 was identified to be related to early onset of AA. Our results provide some information for future research on predisposing genes in HLA regions in Chinese Hans.
Journal of the European Academy of Dermatology and Venereology 11/2006; 20(10):1207-13. · 2.98 Impact Factor
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X.Y. Zhao,
S. Yang,
H.L. Zhou,
Y.G. Zhu,
L. Wei,
W.H. Du, Y.Q. Ren,
Y.H. Liang,
Y.X. Hou,
J.J. Chen,
X.J. Zhang
British Journal of Dermatology 08/2006; 155(5):1070 - 1073. · 3.67 Impact Factor
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ABSTRACT: Very few articles have aimed to illuminate the clinical profiles of vitiligo in China. We conducted this retrospective survey involving 4118 outpatients with vitiligo in order to identify the differences among various clinical types of vitiligo and their associated disorders. Completed questionnaires (3742) were validated and analysed. Of this large cohort, 1565 (41.8%) individuals presented vitiligo vulgaris, followed by focal, segmental, acrofacial, and universal, in that order. The mean age of vitiligo onset was 18.88 years. More than 60% of the patients were affected before 20 years of age. Patients with segmental vitiligo were affected earlier than those with other types of vitiligo (15.55 years; (P < 0.001). More than 74% of the patients presented with focal vitiligo at onset. After 3-5 years, 99% of active vitiligo was worse and shifted from one clinical type to another. However, there was no transformation between acrofacial vitiligo and segmental vitiligo. Compared with the general population, the patients with vitiligo were more likely to be affected by rheumatoid arthritis (P < 0.01), ichthyosis (P < 0.01), chronic urticaria (P < 0.01), or alopecia areata (P < 0.01).
Clinical and Experimental Dermatology 07/2005; 30(4):327-31. · 1.20 Impact Factor
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K L Yan,
P P He,
S Yang,
M Li,
Q Yang, Y Q Ren,
Y Cui,
M Gao,
F L Xiao,
W Huang,
X J Zhang
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ABSTRACT: Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder with progressive hair loss starting in early childhood and aggravating at puberty. Several studies have mapped the MUHH gene to chromosome 8p21. Here we report a Chinese MUHH family with variable phenotypes. All affected individuals have anomalies affecting both hair density and hair shafts. Major clinical characteristics, disease history and histological examination support the diagnosis of MUHH, but the features of scarring in this kindred are modest and none of the patients have vertex hair loss, which is in contrast with typical MUHH. We now report genotyping and linkage analysis using 11 polymorphic microsatellite markers spanning the MUHH locus at 8p. Two-point linkage analysis using these markers revealed significant exclusion of this locus (log of the odds scores < - 2) at Theta = 0 indicating that there is a range of clinical presentations in MUHH, and that more than one genetic locus is responsible for the disorder.
Clinical and Experimental Dermatology 09/2004; 29(5):460-3. · 1.20 Impact Factor
