Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations

2003 ◽  
Vol 82 (1-2) ◽  
pp. 33-37 ◽  
Author(s):  
Priya Kadam-Pai ◽  
Xin-Yi Su ◽  
Jasmin Jiji Miranda ◽  
Agustinus Soemantri ◽  
Nilmani Saha ◽  
...  
2009 ◽  
Vol 36 (5) ◽  
pp. 881-886 ◽  
Author(s):  
FRÉDÉRIQUE GANDJBAKHCH ◽  
ISABELLE FAJARDY ◽  
BENJAMIN FERRÉ ◽  
SYLVAIN DUBUCQUOI ◽  
RENÉ-MARC FLIPO ◽  
...  

Objective.A functional haplotype of peptidyl arginine deiminase 4 (PADI4) was associated with susceptibility to rheumatoid arthritis (RA) in Asian populations, but the results are contradictory in Europeans. We investigated (1) the association of 2 single-nucleotide polymorphisms (SNP) located in exon 2 of PADI4 with RA in another Caucasian population; and (2) the association between PADI4 and anti-citrullinated protein (anti-CCP) antibodies.Methods.DNA samples were obtained from 405 French RA patients and 275 controls. All RA patients met the revised criteria of the American College of Rheumatology. PADI4_89 163(G→A) and PADI4_90 245(T→C) SNP were genotyped using a PCR-RFLP method confirmed by direct sequencing. All patients and controls were genotyped for HLA-DRB1. The presence of anti-CCP antibodies was tested in 243 RA patients using an ELISA technique.Results.We focused on PADI4_89 163(G→A) and PADI4_90 245(T→C) SNP that distinguished 2 main haplotypes: AC haplotype (PADI4_89*A PADI4_90*C) and GT haplotype (PADI4_89*G PADI4_90*T), described, respectively, as “nonsusceptible” and “susceptible.” A positive association between RA and presence of the GT haplotype was found in the heterozygous state (p = 0.002) and the homozygous state (RA patients 22%, controls 13%; p = 0.005). A correlation was observed between the presence but not the level of anti-CCP antibodies and the GT heterozygous (p = 0.03) and homozygous (p = 0.05) haplotypes. No correlation was found between the HLA-DRB1 shared epitope and any of the PADI4 haplotypes.Conclusion.Our findings confirm those of Japanese, Korean, and Canadian studies and suggest that PADI4 may be a new susceptibility gene independent of HLA-DRB1 for RA in Caucasian populations.


PLoS Genetics ◽  
2011 ◽  
Vol 7 (7) ◽  
pp. e1002170 ◽  
Author(s):  
Emiko Noguchi ◽  
Hiromi Sakamoto ◽  
Tomomitsu Hirota ◽  
Kaori Ochiai ◽  
Yoshimasa Imoto ◽  
...  

2017 ◽  
Vol 49 (1-2) ◽  
pp. 1-17 ◽  
Author(s):  
Anna Sauerbier ◽  
Onanong Jitkritsadakul ◽  
Nataliya Titova ◽  
Lisa Klingelhoefer ◽  
Yoshio Tsuboi ◽  
...  

Background: Ethnic variations have been described in medical conditions, such as hypertension, diabetes, and multiple sclerosis. Whether ethnicity plays a role in Parkinson's disease (PD), particularly with regard to non-motor symptoms (NMS), remains unclear. Existing literature is diverse, controversial, and inadequately documented. This review aims to analyse and report the currently available literature on NMS, specifically in Asian PD patients. Summary: We conducted a literature review using PubMed, searching for articles and currently available publications that reference and assess NMS in PD patients living in Asia using the validated NMS Questionnaire (NMS Quest) and NMS Scale (NMSS). In total, 24 articles were included: 12 using the NMS Quest and 12 using the NMSS. Symptoms of constipation, memory impairment, and nocturia were the most frequently self-reported symptoms (NMS Quest) in selected Asian populations, while symptoms within the domains sleep/fatigue, attention/memory, and mood/apathy were most prevalent when applying the health-professional completed NMSS. Key Messages: NMS are generally prevalent and highly burdensome within selected Asian PD populations living in countries included in this review. Our review suggests that NMS-driven phenotypic heterogeneity is present in Asian patients, and compared to Western PD populations there might be variations in assessed NMS.


Author(s):  
Dr. Minti Kumari ◽  
Dr. Madhuri Kumari ◽  
Dr Anurag Rai ◽  
Dr. Navin Kumar

It is evident that hyperdontia is more common in the permanent dentition than in the primary. There is a considerable difference between males and females in the prevalence of these teeth in permanent dentition; hyperdontia is twice as common in males as in females. However, this approximation varies in terms of location, other associating syndromes that may be present, and the ethnicity of the individual. In terms of ethnicity, it can be seen that hyperdontia is in fact less common in Caucasian than in Asian populations. There is evidence to show that an individual is more likely to have hyperdontia if other members of their family also have the condition. Hence the present study was planned for evaluation of occurrence of hyperdontia in non-syndromic  population from Bihar Region. The present study was planned in Public Health Dentistry, Patna Dental College and Hospital, Patna, Bihar. Total 195 patients referred to Department of Dentistry were evaluated in the present study. Panoramic radiographs and clinical records of patients above the age of 18 years and without any syndromic features were selected for the study.  All the radiographs were examined for the presence of supernumerary teeth, their location, morphology, and number. Morphologically, teeth were classified as conical, tuberculate, supplemental, and odontoma. Early diagnosis of dental anomalies can prevent some esthetic, orthodontic, and periodontal problems, and knowledge of the prevalence and distribution of the anomalies may help clinicians to the detection of these anomalies at early stages. Our study evaluated the prevalence of selected dental anomalies; future studies should investigate the prevalence of dental anomalies of all types. Keywords: Hyperdontia, non-syndromic, panoramic radiograph, supernumerary teeth, etc.


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