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A novel association of rs13334070 in the RPGRIP1L gene with adiposity factors discovered by joint linkage and linkage disequilibrium analysis in Iranian pedigrees: Tehran Cardiometabolic Genetic Study (TCGS).

Genet. Epidemiol.2019 Apr;43(3):342-351. doi:10.1002/gepi.22179. Epub 2018 Dec 30
Niloufar Javanrouh 1 , Ali R Soltanian 2 , Leili Tapak 2 , Fereidoun Azizi 3 , Jurg Ott 4 , Maryam S Daneshpour 1
Niloufar Javanrouh 1 , Ali R Soltanian 2 , Leili Tapak 2 , Fereidoun Azizi 3 , Jurg Ott 4 , Maryam S Daneshpour 1
+ et al

[No authors listed]

Author information
  • 1 Department of Cellular and Molecular, Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • 2 Department of Biostatistics and Epidemiology, Modeling of Non-Communicable Diseases Research Center, School of Public Health, Hamadan University of Medical Sciences, Hamadan, Iran.
  • 3 Department of Thyroid, Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • 4 Department of Statistical Genomics Methodology, Laboratory of Statistical Genetics, Rockefeller University, New York, New York.

摘要


Understanding the genetic and metabolic bases of obesity is helpful in planning and developing health strategies. Therefore, the first family-based joint linkage and linkage disequilibrium study was conducted in Iranian pedigrees to assess the relationship between obesity and single-nucleotide polymorphisms (SNPs) located in the 16q12.2 region. In the present study, a total of 13,344 individuals were included, of whom 12,502 individuals were within 3,109 pedigrees and 842 were unrelated singletons. To investigate the relationship between obesity and genetic variants, a joint model of linkage and linkage disequilibrium was applied. Moreover, a sequence kernel association test (SKAT) was used to evaluate the association of the SNP set with body size and lipid profile measurements. The joint model showed that rs13334070, in the intron 4 of the RPGRIP1L gene, has a significant association with obesity. According to the 4-gamete rule, which is a procedure for constructing SNP sets by considering recombination occurrence between SNPs, this polymorphism has a high correlation with six nearby SNPs that make an SNP set. SKAT showed that this SNP set has a significant association with body size factors, but almost no association with most of the lipid profile measurements. In conclusion, from the result of this study, it might be reasonable to consider RPGRIP1L as an important gene whose variations could be associated with obesity risk factors.

KEYWORDS: Tehran lipid and glucose study (TLGS), family study, kernel machine regression (KMR), next generation sequencing (NGS)