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1.
Gene ; 558(1): 75-81, 2015 Mar 01.
Article in English | MEDLINE | ID: mdl-25542809

ABSTRACT

Several studies have revealed the association between single nucleotide polymorphisms (SNPs) in the first intron of fat mass and obesity-associated (FTO) gene and obesity. To date, more than 100 SNPs in the FTO gene have been identified in various populations. Nevertheless, this association has not yet been confirmed in Thai populations. The aim of this study was to investigate whether FTO variants are associated with obesity in Thais. We analyzed ten variants in the FTO gene (rs9939609, rs9926289, rs8050136, rs9930501, rs9930506, rs9940646, rs9940128, rs1421085, rs17817449, and rs8043757) in 12 families (83 persons); composed of 12 proband cases and 71 associated family members. All participants were genotyped using polymerase chain reaction (PCR) method and DNA sequencing assay. We found significant associations between three SNPs located in the first intron of FTO gene (rs1421085, rs17817449, and rs8043757) and obesity. The odds ratios were 2.82 (95% CI, 1.16-6.90, p=0.02) for rs1421085 and rs17817449, and 3.15 (95% CI, 1.28-7.76, p=0.01) for rs8043757. Strong linkage disequilibrium among ten SNPs was observed (D'>0.8). Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043757 (A/T)) showed that the CGT haplotype is associated with an increased risk of obesity (OR, 2.42; 95% CI, 1.18-4.97; p=0.018) when compared to the reference haplotype (TTA). The SNPs rs1421085, rs17817449 and rs8043757 in the first intron of the FTO gene are associated with increasing risk of obesity in Thais.


Subject(s)
Obesity/genetics , Polymorphism, Single Nucleotide , Proteins/genetics , Adolescent , Alpha-Ketoglutarate-Dependent Dioxygenase FTO , Asian People/genetics , Child , Female , Haplotypes , Humans , Introns , Male
2.
J Med Assoc Thai ; 97(10): 1004-8, 2014 Oct.
Article in English | MEDLINE | ID: mdl-25632614

ABSTRACT

BACKGROUND: The inhibitor of DNA binding 4 (ID4) protein regulates osteogenic and adipogenic cell fate and lack of lD4 gene expression decreased osteoblast differentiation. Variant in the ID4 gene polymorphism has not been reported with osteoporosis. OBJECTIVE: To identify whether ID4 can be a marker gene for osteoporosis in Thai menopausal women. MATERIAL AND METHOD: The 3 'UTR of lD4 (rs3798339) single nucleotide polymorphism was examined bypolymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP), together with lumbar spine bone mineral density (BAMD) in 160 Thai menopausal women. RESULTS: Lumbar spine 3 (L3) had a significantly lower BMD score in women with the TT genotype, compared with the CT+CC genotypes (p = 0.037). This disappeared after the adjustment of various factors. CONCLUSION: The polymorphism at 3'UTR of lD4 gene can alter ID4 mRNA stability, and may be linked to the function of proteins. However, this needs confirmation in larger populations. The present study is useful as an initial investigation into ID4 gene polymorphism in osteoporosis.


Subject(s)
3' Untranslated Regions/genetics , Inhibitor of Differentiation Proteins/genetics , Osteoporosis, Postmenopausal/genetics , Polymorphism, Genetic , Adult , Aged , Asian People , Bone Density/physiology , Female , Genotype , Humans , Lumbar Vertebrae/physiology , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Thailand
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