Table 3 Summary of linkage results for adult and growth phenotypes in the VRC
Trait | Maximum LOD | Chr. | cM | Human associated region | Genes of interest in suggestive Loci | Associated human phenotypes |
|---|---|---|---|---|---|---|
Adult measures | ||||||
BW (kg) | 1.77 | 13 | 54 | — | — | — |
WC (cm) | 1.79 | 8 | 9 | — | — | — |
BMI | 2.27 | 10 | 109 | 2q37.3 | RAMP1,FAM132B,HDAC4,CAPN10/GPR35,SNED1,PASK,HDLBP,STK25 andTWIST2 | Type 2 diabetes, insulin dysregulation, coronary artery disease, thyroid disorder and lipid metabolism |
CRL (cm) | 1.89 | 5 | 15 | 16p13.1 | CLEC16A,SOCS1,TNP2,PRM3, RMI2andLITAF | Obesity, Type 1 diabetes, insulin resistance and TNF-α pathway |
2.95 | 7 | 29 | 4q12–21.1 | CLOCK,TMEM165,EREG,CXCL11,STBD1,CXCL13,G3BP2,NUP54 andSCARB2 | Obesity, BMI, abnormal adipose distribution, congenital disorder of glycosylation type Iik, glycogen metabolism, weight fluctuations, autoimmune thyroiditis, thymic hyperplasia and NF-κB pathway | |
2.71 | 21 | 3 | 7p11.2 | VOPP1,LANCL2,EGFR andSEC61G | Hypertension, insulinoma, atherosclerosis, hypercholesterolemia, thyroid dysfunction, insulin production and NF-κB pathway | |
Growth Parameters | ||||||
BW (kg) | ||||||
Asymptote | 1.91 | 23 | 0 | — | — | |
Midpoint | 1.92 | 2 | 24 | 2q13.1 | MYBL2,IFT52,L3MBTL1/SGK2,SRSF6 andPTPRT | Type 2 diabetes, Type 1 diabetes |
Rate | 2.79 | 5 | 19 | 16p13.1 | CLEC16A,SOCS1,TNP2,PRM3,RMI2,LITAF,TXNDC11,TNFRSF17,CPPED1,PARN,PLA2G10,PDXDC1,NTAN1 andPMM2 | Disorder of glycosylation type 1a, abnormal adipose distribution, Type 1 diabetes, obesity, hypertension, coronary artery disease, insulin resistance, lipid metabolism, TNF-α pathway and NF-κB pathway |
2.04 | 10 | 115 | 2q37.3 | CAPN10/GPR35,SNED1,PASK,HDLBP andSTK25 | Insulin metabolism, Type 2 diabetes, coronary artery disease and pseudopseudohypoparathyroidism | |
2.00 | 21 | 5 | 7p12.1 | POM121L12 | Glucose transport | |
2.01 | 23 | 52 | 5q33.3 | FAXDC2andTIMD4 | Metabolic disorder, LDL/triglyceride levels and fatty acid biosynthesis | |
CRL (cm) | ||||||
Asymptote | 2.11 | 7 | 29 | 4q21.1 | CXCL13 | Thymic hyperplasia |
2.26 | 21 | 0 | 7p11.2 | PHKG1,CCT6A,PSPH,VOPP1,LANCL2,EGFR andSEC61G | Atherosclerosis, hypertension, glycogen storage, insulinoma, insulin dysregulation, early failure to thrive, TNF-α pathway and NF-κB pathway | |
Midpoint | 1.62 | 10 | 17 | — | — | |
Rate | 1.64 | 4 | 8 | — | — | |
