rs699

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.

This population genetic analysis examined 1,001 pharmacogenetic SNPs across 52 populations from the Human Genome Diversity Cell-Line Panel using discriminant analysis to characterize global genetic variation in drug-metabolizing loci. The study identified six geographic genetic clusters and found that cytochrome P450 genes show significantly higher genetic diversity between populations compared to other gene categories. Key variants rs1403527 (NR1I2) and rs699 (AGT) were identified as substantially contributing to population differentiation, with genetic variation patterns reflecting human demographic history.

This comprehensive review examines the genetic background of nonalcoholic fatty liver disease (NAFLD), focusing on variants identified by genome-wide association studies (GWAS) and candidate gene studies. The most significant GWAS-identified variants are PNPLA3 rs738409 (I148M), which strongly associates with increased liver steatosis, fibrosis severity, and HCC risk (12-fold increased risk for homozygous carriers), and TM6SF2 rs58542926 (E167K), which increases NASH progression but reduces cardiovascular risk. The review also discusses numerous candidate genes involved in lipid and glucose metabolism and liver injury mechanisms.

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Genome-wide meta-analysis of 9,361 Europeans identified six genome-wide significant SNPs on chromosome 17q25 associated with white matter hyperintensity (WMH) burden. The most significant SNP, rs3744028 (P = 4.0×10⁻⁹ discovery, P = 1.3×10⁻⁷ replication, P = 4.0×10⁻¹⁵ combined), and rs1055129 were replicated in 3,024 additional individuals. Risk alleles increased WMH burden by 4-8% of mean burden.

Comprehensive review of genetic background in nonalcoholic fatty liver disease (NAFLD). The PNPLA3 I148M variant (rs738409 C>G) is identified as a major genetic player strongly associated with increased liver fat content, NASH development, fibrosis severity, and HCC risk. The TM6SF2 E167K variant (rs58542926) emerges as another key contributor to NAFLD pathogenesis and disease progression. Multiple additional GWAS-identified variants and candidate genes are reviewed for their roles in NAFLD susceptibility and progression.

This population-based study of 992 Ghanaian residents examined genetic and non-genetic determinants of tissue-type plasminogen activator (t-PA) and plasminogen activator inhibitor-1 (PAI-1) levels, factors associated with thromboembolic disease risk. The PAI-1 4G/5G (rs1799768) polymorphism predicted PAI-1 levels in females, while the t-PA I/D (rs4646972), and renin polymorphisms (rs3730103, rs1464816) showed gender-specific associations with t-PA and PAI-1. Both traditional cardiovascular risk factors (BMI, blood pressure, glucose, lipids) and genetic variants contributed to t-PA and PAI-1 variation, with genetic factors differing significantly between males and females.

This is a study design and baseline characteristics paper for a nested case-control pharmacogenetic study of antihypertensive drug treatment. The study recruited 5,126 participants (794 myocardial infarction cases, 4,997 controls) through Dutch community pharmacies to assess whether specific genetic polymorphisms in renin-angiotensin system genes (AGT, ACE, AGTR1), alpha-adducin (ADD1), and other cardiovascular-related genes (GNB3, NOS3) modify the effect of antihypertensive drugs on myocardial infarction risk. The paper presents recruitment methodology, participant baseline characteristics, and selected genetic polymorphisms for analysis rather than association results.