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1.  Association of genetic variation in FTO with risk of obesity and type 2 diabetes with data from 96,551 East and South Asians 
Diabetologia  2011;55(4):981-995.
Aims/hypothesis
FTO harbours the strongest known obesity-susceptibility locus in Europeans. While there is growing evidence for a role for FTO in obesity risk in Asians, its association with type 2 diabetes, independently of BMI, remains inconsistent. To test whether there is an association of the FTO locus with obesity and type 2 diabetes, we conducted a meta-analysis of 32 populations including 96,551 East and South Asians.
Methods
All studies published on the association between FTO-rs9939609 (or proxy [r2 > 0.98]) and BMI, obesity or type 2 diabetes in East or South Asians were invited. Each study group analysed their data according to a standardised analysis plan. Association with type 2 diabetes was also adjusted for BMI. Random-effects meta-analyses were performed to pool all effect sizes.
Results
The FTO-rs9939609 minor allele increased risk of obesity by 1.25-fold/allele (p = 9.0 × 10−19), overweight by 1.13-fold/allele (p = 1.0 × 10−11) and type 2 diabetes by 1.15-fold/allele (p = 5.5 × 10−8). The association with type 2 diabetes was attenuated after adjustment for BMI (OR 1.10-fold/allele, p = 6.6 × 10−5). The FTO-rs9939609 minor allele increased BMI by 0.26 kg/m2 per allele (p = 2.8 × 10−17), WHR by 0.003/allele (p = 1.2 × 10−6), and body fat percentage by 0.31%/allele (p = 0.0005). Associations were similar using dominant models. While the minor allele is less common in East Asians (12–20%) than South Asians (30–33%), the effect of FTO variation on obesity-related traits and type 2 diabetes was similar in the two populations.
Conclusions/interpretation
FTO is associated with increased risk of obesity and type 2 diabetes, with effect sizes similar in East and South Asians and similar to those observed in Europeans. Furthermore, FTO is also associated with type 2 diabetes independently of BMI.
Electronic supplementary material
The online version of this article (doi:10.1007/s00125-011-2370-7) contains peer-reviewed but unedited supplementary material, which is available to authorised users.
doi:10.1007/s00125-011-2370-7
PMCID: PMC3296006  PMID: 22109280
Asians; FTO; Meta-analysis; Obesity; Type 2 diabetes
2.  Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes 
Journal of medical genetics  2009;46(12):856-861.
Background
Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA patients have non-diagnostic SLC26A4 genotypes with only one or no detectable mutant alleles.
Methods and results
In this study, the authors were unable to detect occult SLC26A4 mutations in EVA patients with non-diagnostic genotypes by custom comparative genomic hybridisation (CGH) microarray analysis or by sequence analysis of conserved non-coding regions. The authors sought to compare the segregation of EVA among 71 families with two (M2), one (M1) or no (M0) detectable mutant alleles of SLC26A4. The segregation ratios of EVA in the M1 and M2 groups were similar, but the segregation ratio for M1 was significantly higher than in the M0 group. Haplotype analyses of SLC26A4-linked STR markers in M0 and M1 families revealed discordant segregation of EVA with these markers in eight of 24 M0 families.
Conclusion
The results support the hypothesis of a second, undetected SLC26A4 mutation that accounts for EVA in the M1 patients, in contrast to non-genetic factors, complex inheritance, or aetiologic heterogeneity in the M0 group of patients. These results will be helpful for counselling EVA families with non-diagnostic SLC26A4 genotypes.
doi:10.1136/jmg.2009.067892
PMCID: PMC2941511  PMID: 19578036
3.  Multicenter study on the prevalence of perennial allergic rhinitis and allergy-associated disorders. 
Journal of Korean Medical Science  2001;16(6):697-701.
Multicenter Study on the Prevalence of Perennial Allergic Rhinitis and Allergy-Associated Disorders This study was aimed to determine the prevalence of perennial allergic rhinitis (PAR) using the skin test, radioallergosorbent test (RAST), or multiple allergosorbent test (MAST) and to clarify the clinical aspects of the patients diagnosed as having PAR by the questionnaire survey and rhinologic examination. The 71,120 subjects who had visited the 23 otolaryngology clinics at the randomly selected tertiary referral hospitals in Korea between November 1, 1999 and April 30, 2000 were studied. PAR was diagnosed when subjects complained of two or more associated symptoms and the skin test, RAST, or MAST using perennial inhalant allergens was positive. The questionnaire survey and rhinologic examination were performed in subjects with PAR. The prevalence of PAR was 3.93%. We could find no significant difference in the prevalence of PAR between the two sexes. However, there was a significant difference in the prevalence of PAR between the child and adult groups. The chief complaints were, in order of decreasing frequency, nasal obstruction, watery rhinorrhea, and sneezing. There was a family history of PAR in 40.2% of the subjects. The 39.6% of the subjects had associated allergic diseases, being atopic dermatitis most common. In conclusion, the prevalence of PAR in tertiary referral hospitals in Korea is 3.93%. Many subjects with PAR have family history and appear to be associated with other allergic diseases.
PMCID: PMC3054803  PMID: 11748347
4.  Study on the Korean adult cranial capacity. 
Journal of Korean Medical Science  1995;10(4):239-242.
Cranial capacity was measured in Korean adult skulls. The cavity was filled with rice seeds and the volume of the seeds were measured in a graduated cylinder. The results were 1470 +/- 107 (mean +/- standard deviation) in male and 1317 +/- 117 cc in female skulls. These values were in good accordance with those previously reported. In addition, regression formulae were obtained with the product of the length, breadth, and height of the skull as an independent parameter and the measured capacity as a dependent one. With known external measurements, the expected cranial capacity was as follows: when using baso-bregmatic height, male: capacity = 307.5 + 333 x 10(-6) x (length.breadth.baso-bregmatic height) female: capacity = -12.0 + 435 x 10(-6) x (length.breadth.baso-bregmatic height) and, when using auriculo-bregmatic height, male: capacity = 214.6 + 429 x 10(-6) x (length.breadth.auriculo-bregmatic height) female: capacity = 131.6 + 461 x 10(-6) x (length.breadth.auriculo-bregmatic height).
PMCID: PMC3054067  PMID: 8593202

Results 1-4 (4)