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Association between SNP and Haplotypes in ALOX12 Gene and Peak BMD and Obesity Related Phenotypes Variation in the Chinese Nuclear Families

Author: XiaoWenJin
Tutor: ZhangZhenLin
School: Suzhou University
Course: Internal Medicine
Keywords: Bone density Body fat content Body lean mass ALOX12 Polymorphism Quantitative trait transmission disequilibrium test
CLC: R589.2
Type: Master's thesis
Year: 2009
Downloads: 74
Quote: 0
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Abstract


Objective: peanuts acid 12 - lipoxygenase (ALOX12), is one of the members of the lipoxygenase superfamily, capable of the catalytic oxygen molecules into the polyunsaturated fatty acids, activated receptors (PPARs product for peroxisome ) of an endogenous ligand. Activation of PPARs induced bone marrow mesenchymal stem cells to the adipocyte differentiation while inhibiting osteoblast formation. Study ALOX12 gene SNP and haplotype with peak bone density of the men and women of the Shanghai area and youth male obesity phenotype relationship, and further analysis of the relationship between body composition and bone mineral density. Methods: The collection of 401 female and 400 male nuclear families, where the former total of 1260 cases, including 802 both parents and 458 daughters, the latter of 1,215 cases, including 800 two parents and 415 sons, are Han population . International haplotype map of the human genome Plan (HapMap) information, set the linkage disequilibrium coefficient (r ~ 2) is greater than 0.8, the minimum allele frequency (MAF) greater than 0.05, select ALOX12 gene all six tag SNPs ( rs2073438, rs2292350, rs312470, rs434473, rs1235805 and rs312462), using TaqMan probes identified genotype. Dual-energy X-ray absorptiometry (DXA) of lumbar spine, left femoral neck, total hip BMD and body fat content (Fat mass, FM), lean mass (Lean mass, LM), all subjects simultaneously measure the height and weight. The fat one hundred components (PFM), and the percentage of lean tissue (FLM) is divided by the weight to get through FM and LM. Has covariance and quantitative trait transmission disequilibrium test (QTDT) analysis of the ALOX12 gene polymorphism with male and female peak bone density and youth male obesity phenotype relationship; Pearson correlation analysis of body composition and bone mineral density, and using multiple regression analysis of FM and LM impact on bone mineral density variation. Results: sites of ALOX12 gene rs312470 polymorphism and female femoral neck sites peak BMD (P = 0.029). Not found ALOX12 gene SNPs and haplotypes with male lumbar, femoral neck, total hip parts of peak bone density correlation (P> 0.05). The gene for bone mineral density there may be gender differences. the rs2073438 polymorphism male FM, PFM related (P <0.05) than GG genotype (P = 0.001 and P = 0.009), the AA genotypes FM and PFM. QTDT detect the gene is the most common haplotype AGAGG polymorphism with FM and PFM related (P <0.05), and BMI, LM is not related (P> 0.05). FM and LM peak bone density is positively correlated with the various parts of the multiple regression analysis showed that the LM contribution of bone mineral density variation rate of 14.9% -24.9%, FM contribution to bone mineral density was 5.1% -6.8%. Conclusions: (1) ALOX12 gene rs312470 sites female femoral neck site of the Shanghai area of ??peak bone density variation of quantitative trait loci. (2) for the first time confirmed ALOX12 gene polymorphism and young men FM and PFM. (3) FM and LM lumbar spine, femoral neck, total hip parts of peak bone density into positive correlation, LM can better predict bone density variation.

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CLC: > Medicine, health > Internal Medicine > Endocrine diseases and metabolic diseases > Metabolic diseases > Lipodystrophy
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