Polymorphisms of PTPN11 gene could influence serum lipid levels in a sex-specific pattern

Abstract

BackgroundPrevious studies have reported that different genotypes of PTPN11 gene (protein tyrosine phosphatase, non-receptor 11) were associated with different levels of serum lipids. The aim of this study was to explore the relationship between single nucleotide polymorphisms (SNPs) of PTPN11 and serum lipids in Northeast Chinese.MethodsA total of 1003 subjects, 584 males and 419 females, were included in the study and their serum lipids were determined. Five htSNPs (rs2301756, rs12423190, rs12229892, rs7958372 and rs4767860) of PTPN11 gene were genotyped using TaqMan assay method.ResultsAll of the five SNPs were in Hardy-Weinberg equilibrium. The male subjects had higher triglyceride (TG), higher low-density lipoprotein cholesterol (LDL-C) and lower high-density lipoprotein cholesterol (HDL-C) level than females. In males, rs4767860 was found to be associated with serum TG and total cholesterol (TC) levels and rs12229892 was associated with TC level. However, these significant associations could not be observed in females. In females, rs2301756 was found to be associated with TG and rs7958372 was associated with LDL-C level. Haplotype analysis showed that the GCGTG haplotype was associated with slightly higher TG level and ATGCG with higher TC level.ConclusionsSNPs of PTPN11 may play a role in serum lipids in a sex-specific pattern. However, more studies are needed to confirm the conclusion and explore the underlying mechanism.

Genome wide association study identifies novel potential candidate genes for bovine milk cholesterol content

“…Some of the genes have been reported to have potential roles in CHL metabolism such as protein tyrosine phosphatase 1β (PTPN1) , diacylglycerol kinase eta ( DGKH) and serine dehydratase ( SDS ). PTPN1 is an important gene for plasma total and HDL-CHL 30 – 33 while DGKH encodes an enzyme responsible for the recycling and degradation of diacylglycerol, known as important for CHL efflux from adipose cells 34 . SDS gene on the other hand is known to contain a susceptibility loci for low HDL-CHL levels 35 .…”

New and Unexpected Biological Functions for the Src-Homology 2 Domain-Containing Phosphatase SHP-2 in the Gastrointestinal Tract

“…Genome-wide association studies have associated the PTPN11 gene with gastric atrophy, 67 gastric cancer, 66 colitis, and serum lipid levels. 106 , 107 The mechanisms underlying these associations are still in the hypothesis stage, which stipulates that PTPN11 SNPs may change the expression of the gene and consequently influence the SHP-2 protein, which in turn regulates proliferation, differentiation, and/or metabolism in the cells. Conversely, somatic gain-of-function mutations in PTPN11 have been detected in colorectal cancer.…”

Genetic Polymorphisms Associated with the Neutrophil–Lymphocyte Ratio and Their Clinical Implications for Metabolic Risk Factors

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