This variant has been studied extensively. It has been linked to Type II Diabetes (Mukhopadhyaya et al) and Type I Diabetes (Panierakis et al). However, these studies both linked rs731236 to the disease, and the second study linked rs731236 with a much higher odds ratio than rs1544410 (4.43 vs. 2.19) Since rs731236 is located in an exon while rs1544410 is located in an intron and the two variants are in strong linkage disequilibrium, it is likely that the functional effect seen in these studies comes from the other variant.
Since the vitamin D receptor gene has been implicated in a wide variety of diseases (diabetes, various types of cancer, etc.), its polymorphisms have been fairly intensely studied. However, rs1544410 has relatively little effect on most of these diseases, possibly due to its being located in an intron.
Dvornyk, V, JR Long, PY Liu, H Shen, RR Recker and HW Deng. “Polymorphisms of the vitamin D receptor gene predict the onset of surgical menopause in Caucasian females. .” Gynecol Endocrinol (2006): n. pag. Web. 3 Apr 2011.
Liu, Yao, Wei Chen, Zhi-bin Hu, Lin Xu, Yong-qian Shu, Shi-yang Pan Jun-Chang Dai, Guang-Fu Jin, Hong-zia Ma and Hong-bing Shen. “Plasma Vitamin D Levels And Vitamin D Receptor Polymorphisms Are Associated with Survival of Non-small Cell Lung Cancer.” Chin J Cancer Res (2011): n. pag. Web. 31 Mar 2011.
Mukhopadhyaya , P.N. , A, Acharya , Y. Chavan , S.S. Purohit , and A. Mutha. “Metagenomic study of single-nucleotide polymorphism within candidate genes associated with type 2 diabetes in an Indian population.” Genetics and Molecular Research 9.4 (2010): n. pag. Web. 3 Apr 2011.
Panierakis, Charalambos , George Goulielmos , Mamoulakis Dimitris, Eleni Petraki , Efstathios Papavasiliou, and Emmanouil Galanakis . “Vitamin D receptor gene polymorphisms and susceptibility to type 1 diabetes in Crete, Greece.” Clinical Immunology 133. (2009): n. pag. Web. 3 Apr 2011.